Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20190703-00254
X. Deng, Pengxu Wang, Huijuan Yuan
The clinical data of 239 inpatients with type 2 diabetes in Endocrinology Department of Henan Provincial People′s Hospital from January to February 2017 were collected. A total of 170 subjects were included in the final analysis. One diabetes-specific vertebral facture risk estimation called risk score for vertebral fracture was used to estimate the risk of vertebral fracture. Multivariate linear regression analysis was used to calculate the association of serum uric acid with risk of vertebral fracture. The mean age of subjects in final analysis was 56.5±26.4 years old, with the duration of diabetes 8.6±7.1 years and the vertebral fracture risk score 5.6±4.0. Additionally, there was a negative linear correlation between serum uric acid and vertebral fracture risk score in patients with type 2 diabetes(Ptrend=0.021) independent of age, gender, systolic blood pressure, HbA1C, course of diabetes, obesity status, total cholesterol, and estimated glomerular filtration rate(P=0.033). Multivariate linear regression indicated that age, course of diabetes, blood pressure, total cholesterol, serum albumin, T score at femoral neck were related to the vertebral fracture risk score. Key words: Uric acid; Diabetes mellitus, type 2; Fracture
{"title":"Association of serum uric acid with risk of vertebral fracture in patients with type 2 diabetes","authors":"X. Deng, Pengxu Wang, Huijuan Yuan","doi":"10.3760/CMA.J.CN311282-20190703-00254","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190703-00254","url":null,"abstract":"The clinical data of 239 inpatients with type 2 diabetes in Endocrinology Department of Henan Provincial People′s Hospital from January to February 2017 were collected. A total of 170 subjects were included in the final analysis. One diabetes-specific vertebral facture risk estimation called risk score for vertebral fracture was used to estimate the risk of vertebral fracture. Multivariate linear regression analysis was used to calculate the association of serum uric acid with risk of vertebral fracture. The mean age of subjects in final analysis was 56.5±26.4 years old, with the duration of diabetes 8.6±7.1 years and the vertebral fracture risk score 5.6±4.0. Additionally, there was a negative linear correlation between serum uric acid and vertebral fracture risk score in patients with type 2 diabetes(Ptrend=0.021) independent of age, gender, systolic blood pressure, HbA1C, course of diabetes, obesity status, total cholesterol, and estimated glomerular filtration rate(P=0.033). Multivariate linear regression indicated that age, course of diabetes, blood pressure, total cholesterol, serum albumin, T score at femoral neck were related to the vertebral fracture risk score. \u0000 \u0000Key words: \u0000Uric acid; Diabetes mellitus, type 2; Fracture","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"330-332"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43728095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20190605-00213
Zongyue Li, Chao Xu, Ling Gao
Gitelman syndrome(GS) is an autosomal recessive genetic disease caused by mutations in the SLC12A3 gene located in chromosome 16q13. The incidence of GS is 1-10∶40 000. SLC12A3 encodes thiazide-sensitive sodium-chloride cotransporters(NCC) which play key roles in Na+ and Cl- reabsorption. GS is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. There are some correlations between genotypes and phenotypes. In previous studies, more than 500 mutations have been identified and some of them have been functionally analyzed. We review genetic mutations and functional studies related to GS as well as the relationship between genotypes and phenotypes, and summarize the research process in molecular genetics of GS. Key words: Gitelman syndrome; Na+ /Cl- cotransporter; SLC12A3 gene mutation
{"title":"Research process in molecular genetics of Gitelman syndrome","authors":"Zongyue Li, Chao Xu, Ling Gao","doi":"10.3760/CMA.J.CN311282-20190605-00213","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190605-00213","url":null,"abstract":"Gitelman syndrome(GS) is an autosomal recessive genetic disease caused by mutations in the SLC12A3 gene located in chromosome 16q13. The incidence of GS is 1-10∶40 000. SLC12A3 encodes thiazide-sensitive sodium-chloride cotransporters(NCC) which play key roles in Na+ and Cl- reabsorption. GS is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. There are some correlations between genotypes and phenotypes. In previous studies, more than 500 mutations have been identified and some of them have been functionally analyzed. We review genetic mutations and functional studies related to GS as well as the relationship between genotypes and phenotypes, and summarize the research process in molecular genetics of GS. \u0000 \u0000Key words: \u0000Gitelman syndrome; Na+ /Cl- cotransporter; SLC12A3 gene mutation","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"348-351"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44097032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20191030-00457
R. Gao, Qingzhu Wang, Lina Wu, H. Ji, F. Guo, G. Qin
Objective To explore the distribution of serum TRAb IgG subtypes in patients with thyroid-associated ophthalmopathy(TAO) at different stages and its value in assessing TAO activity. Methods Forty-three patients with TAO, 30 patients with Graves′ disease (GD group), 19 patients with Hashimoto′s thyroiditis (HT group), and 50 healthy subjects (NC group)admitted to the First Affiliated Hospital of Zhengzhou University were collected from August 2018 to February 2019. According to the clinical activity score (CAS), the patients with TAO were further divided into the active period group (AP group, CAS≥3 points, 22 cases) and the inactive period group (IP group, CAS<3 points, 21 cases). The basic clinical data of subjects in each group were collected. The serum concentrations of FT3, FT4, TSH, thyroperoxidase antibody (TPOAb), thyroglobulin antibody (TgAb), and thyroid-stimulating hormone receptor antibody (TRAb) were detected by chemiluminescence immunoassay and the binding rate in percentage (B) of serum TRAb IgG and IgG subtypes were detected by ELISA. The positive rate in each group and relative content of positive samples were compared. Results (1)Compared with HT group, the positive rates of IgG1 and IgG2 in TAO group and GD group were significantly decreased (P 0.05). (2)Compared with the IP group, IgG1(B) and the positive rates of IgG1 in the AP group were increased while IgG4(B) and the relative contents of IgG4 were reduced (P<0.05). (3)IgG1(B)was positively correlated with TAO activity (B=6.190, P=0.007), and higher IgG4(B)indicated more inclinations to the inactive period (B=-16.390, P=0.052). (4) The area under the curve of receiver operating characteristic (ROC) for TAO developing into active period assessed by activity rate was 0.859 (95%CI 0.746-0.973, P<0.05). When the activity rate was 4.29, the Jordon index showed the largest, with sensitivity of 81.8% and specificity of 81.0%. Conclusions Elevated levels of TRAb IgG1 in the patients with TAO indicate a tendency to active period, while elevated levels of TRAb IgG4 indicate a tendency to inactive period. The activity rate can provide a reference for assessing whether TAO is active or not. Key words: Thyroid-associated ophthalmopathy; IgG subtype; Clinical activity score
{"title":"The characteristics and clinical significance of serum TRAb IgG subtype in patients with thyroid associated ophthalmopathy","authors":"R. Gao, Qingzhu Wang, Lina Wu, H. Ji, F. Guo, G. Qin","doi":"10.3760/CMA.J.CN311282-20191030-00457","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20191030-00457","url":null,"abstract":"Objective \u0000To explore the distribution of serum TRAb IgG subtypes in patients with thyroid-associated ophthalmopathy(TAO) at different stages and its value in assessing TAO activity. \u0000 \u0000 \u0000Methods \u0000Forty-three patients with TAO, 30 patients with Graves′ disease (GD group), 19 patients with Hashimoto′s thyroiditis (HT group), and 50 healthy subjects (NC group)admitted to the First Affiliated Hospital of Zhengzhou University were collected from August 2018 to February 2019. According to the clinical activity score (CAS), the patients with TAO were further divided into the active period group (AP group, CAS≥3 points, 22 cases) and the inactive period group (IP group, CAS<3 points, 21 cases). The basic clinical data of subjects in each group were collected. The serum concentrations of FT3, FT4, TSH, thyroperoxidase antibody (TPOAb), thyroglobulin antibody (TgAb), and thyroid-stimulating hormone receptor antibody (TRAb) were detected by chemiluminescence immunoassay and the binding rate in percentage (B) of serum TRAb IgG and IgG subtypes were detected by ELISA. The positive rate in each group and relative content of positive samples were compared. \u0000 \u0000 \u0000Results \u0000(1)Compared with HT group, the positive rates of IgG1 and IgG2 in TAO group and GD group were significantly decreased (P 0.05). (2)Compared with the IP group, IgG1(B) and the positive rates of IgG1 in the AP group were increased while IgG4(B) and the relative contents of IgG4 were reduced (P<0.05). (3)IgG1(B)was positively correlated with TAO activity (B=6.190, P=0.007), and higher IgG4(B)indicated more inclinations to the inactive period (B=-16.390, P=0.052). (4) The area under the curve of receiver operating characteristic (ROC) for TAO developing into active period assessed by activity rate was 0.859 (95%CI 0.746-0.973, P<0.05). When the activity rate was 4.29, the Jordon index showed the largest, with sensitivity of 81.8% and specificity of 81.0%. \u0000 \u0000 \u0000Conclusions \u0000Elevated levels of TRAb IgG1 in the patients with TAO indicate a tendency to active period, while elevated levels of TRAb IgG4 indicate a tendency to inactive period. The activity rate can provide a reference for assessing whether TAO is active or not. \u0000 \u0000 \u0000Key words: \u0000Thyroid-associated ophthalmopathy; IgG subtype; Clinical activity score","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"315-320"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46937911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20190910-00371
Kunwei Wang, Yue-yue Wu, Xin-mei Huang, Min Yang, Honghui Shen, Li-ming Cheng, Ming Yu, Jun Liu
Objective To analyze the relationship between plasma fibrinogen(FIB) within normal range and microalbuminuria in elderly patients with type 2 diabetes mellitus. Methods A total of 869 elderly subjects with type 2 diabetes mellitus admitted to the Department of Endocrinology of Shanghai Fifth People′s Hospital from October 2012 to October 2014 were included in the study. The patients were divided into four groups based on the quartile level of FIB: Q1 group(<2.42 g/L), Q2 group(2.42-2.89 g/L), Q3 group(2.90-3.61 g/L), and Q4 group(≥3.62 g/L). The relationship between FIB and urinary albumin/creatinine ratio(UACR) was analyzed. Results With the increasing of FIB, the level of UACR was significantly elevated(P<0.05). Pearson correlation analysis showed that FIB was positively associated with age, duration of diabetes, creatinine(Cr) and UACR in men and women(P<0.01). Multiple regression analysis showed that FIB was an independent factor of UACR(P<0.01). Logistic regression analysis showed that the risks of microalbuminuria and macroalbuminuria were respectively 4.536 folds(95%CI 2.516-8.175, P<0.01) and 13.314 folds(95%CI 2.925-60.612, P<0.01) in Q4 group, and 2.177 folds(95%CI 1.273-3.724, P<0.01) and 4.098 folds(95%CI 1.101-19.226, P<0.05) in Q3 group as compared with Q1 group after adjused by following factors: gender, age, duration of diabetes, body mass index(BMI), systolic blood pressure(SBP), diastolic blood pressure(DBP), fasting plasma glucose(FPG), HbA1C, total cholesterol(TC), triglyceride(TG), low density lipoprotein-cholesterol(LDL-C), Cr, alanine aminotransferase(ALT), as well as smoking and drinking behavior. Based on the cut off values to UACR 30 mg/g and 300 mg/g, the receiver operating characteristic curve(ROC) was used to evaluate the value of FIB for UACR. The optimal cut-off value of FIB was 3.18 g/L and 3.22 g/L respectively. Conclusions Plasma FIB was closely associated with microalbuminuria in elderly patients with type 2 diabetes mellitus, which may be considered as one of the predictors for diabetic nephropathy. Key words: Fibrinogen; Diabetes mellitus, type 2; Microalbuminuria
{"title":"Relationship between fibrinogen and microalbuminuria in elderly patients with type 2 diabetes mellitus","authors":"Kunwei Wang, Yue-yue Wu, Xin-mei Huang, Min Yang, Honghui Shen, Li-ming Cheng, Ming Yu, Jun Liu","doi":"10.3760/CMA.J.CN311282-20190910-00371","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190910-00371","url":null,"abstract":"Objective \u0000To analyze the relationship between plasma fibrinogen(FIB) within normal range and microalbuminuria in elderly patients with type 2 diabetes mellitus. \u0000 \u0000 \u0000Methods \u0000A total of 869 elderly subjects with type 2 diabetes mellitus admitted to the Department of Endocrinology of Shanghai Fifth People′s Hospital from October 2012 to October 2014 were included in the study. The patients were divided into four groups based on the quartile level of FIB: Q1 group(<2.42 g/L), Q2 group(2.42-2.89 g/L), Q3 group(2.90-3.61 g/L), and Q4 group(≥3.62 g/L). The relationship between FIB and urinary albumin/creatinine ratio(UACR) was analyzed. \u0000 \u0000 \u0000Results \u0000With the increasing of FIB, the level of UACR was significantly elevated(P<0.05). Pearson correlation analysis showed that FIB was positively associated with age, duration of diabetes, creatinine(Cr) and UACR in men and women(P<0.01). Multiple regression analysis showed that FIB was an independent factor of UACR(P<0.01). Logistic regression analysis showed that the risks of microalbuminuria and macroalbuminuria were respectively 4.536 folds(95%CI 2.516-8.175, P<0.01) and 13.314 folds(95%CI 2.925-60.612, P<0.01) in Q4 group, and 2.177 folds(95%CI 1.273-3.724, P<0.01) and 4.098 folds(95%CI 1.101-19.226, P<0.05) in Q3 group as compared with Q1 group after adjused by following factors: gender, age, duration of diabetes, body mass index(BMI), systolic blood pressure(SBP), diastolic blood pressure(DBP), fasting plasma glucose(FPG), HbA1C, total cholesterol(TC), triglyceride(TG), low density lipoprotein-cholesterol(LDL-C), Cr, alanine aminotransferase(ALT), as well as smoking and drinking behavior. Based on the cut off values to UACR 30 mg/g and 300 mg/g, the receiver operating characteristic curve(ROC) was used to evaluate the value of FIB for UACR. The optimal cut-off value of FIB was 3.18 g/L and 3.22 g/L respectively. \u0000 \u0000 \u0000Conclusions \u0000Plasma FIB was closely associated with microalbuminuria in elderly patients with type 2 diabetes mellitus, which may be considered as one of the predictors for diabetic nephropathy. \u0000 \u0000 \u0000Key words: \u0000Fibrinogen; Diabetes mellitus, type 2; Microalbuminuria","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"309-314"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44283728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20191022-00434
W. Shao, Linshan Zhang, Qingqing Cai, Zhiqiang Lu, Xiaoying Li, Xiaomu Li
Objective To analyze the clinical features of type 2 diabetic patients with insulin autoimmune syndrome after treatment with exogenous insulin. Methods A total of 106 patients with type 2 diabetes diagnosed with exogenous insulin-related insulin autoimmune syndrome (EIAS) were included from September 2017 to March 2019 in the Department of Endocrinology, Zhongshan Hospital, Fudan University. The clinical data, physical examination, and laboratory examination results of patients were collected. Results Of the 106 patients, 84 (79.24%) used premixed human insulin or premixed insulin analogs, and 18 patients (16.98%) presented recurrent hypoglycemia. The arginine stimulation test showed that the median value of the baseline insulin was 73.40 (23.07-146.75) μU/ml, and the median ratio of 4 minute insulin to 0 minute insulin was 1.27 (1.03-1.85), with the mean of the ratio 1.72±1.47. The ratio of baseline insulin (μU/ml) to C-peptide (ng/ml) was 44.60 (14.92-87.93), with an average of 81.92±130.93. Taking the two-fold upper limit of fasting insulin reference value (49.8 μU/ml) as the cut-off point, the subjects were divided into insulin accumulation group (baseline insulin≥49.8 μU/ml) and insulin non-accumulation group (baseline insulin <49.8 μU/ml). Among the 66 patients in the insulin accumulation group, 14 patients had hypoglycemia (21.21%) and 4 patients in the insulin non-accumulation group presented hypoglycemia (10%). The ratio of 4 minute insulin to baseline insulin, ratio of baseline insulin to C-peptide, blood glucose level standard deviation (SDBG) and maximum blood glucose fluctuation amplitude (LAGE) in the insulin accumulation group were significantly higher than those in the insulin non-accumulation group (all P<0.05). Among 66 patients in the insulin accumulation group, 36 patients changed the type of insulin preparafion (insulin treatment group), 30 patients were changed from insulin to oral hypoglycemic agents (oral medication group). After treatment, both SDBG and LAGE in the two groups were significantly lower than before treatment (P<0.05). Conclusions With the aggravation of exogenous insulin accumulation, the fluctuation of blood glucose and the proportion of hypoglycemia were significantly increased. There was a characteristic change in islet function in patients with insulin autoimmune syndrome. After arginine stimulation, there was no significant peak of insulin secretion, showing a " high-level" curve. The baseline insulin/C-peptide ratio was significantly increased. The prognosis of EIAS patients is good after timely diagnosis and adjustment of treatment. Key words: Diabetes mellitus, type 2; Insulin autoantibody; Exogenous insulin-related insulin autoimmune syndrome
{"title":"Analysis on clinical features of 106 type 2 diabetic patients complicated with insulin autoimmune syndrome","authors":"W. Shao, Linshan Zhang, Qingqing Cai, Zhiqiang Lu, Xiaoying Li, Xiaomu Li","doi":"10.3760/CMA.J.CN311282-20191022-00434","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20191022-00434","url":null,"abstract":"Objective \u0000To analyze the clinical features of type 2 diabetic patients with insulin autoimmune syndrome after treatment with exogenous insulin. \u0000 \u0000 \u0000Methods \u0000A total of 106 patients with type 2 diabetes diagnosed with exogenous insulin-related insulin autoimmune syndrome (EIAS) were included from September 2017 to March 2019 in the Department of Endocrinology, Zhongshan Hospital, Fudan University. The clinical data, physical examination, and laboratory examination results of patients were collected. \u0000 \u0000 \u0000Results \u0000Of the 106 patients, 84 (79.24%) used premixed human insulin or premixed insulin analogs, and 18 patients (16.98%) presented recurrent hypoglycemia. The arginine stimulation test showed that the median value of the baseline insulin was 73.40 (23.07-146.75) μU/ml, and the median ratio of 4 minute insulin to 0 minute insulin was 1.27 (1.03-1.85), with the mean of the ratio 1.72±1.47. The ratio of baseline insulin (μU/ml) to C-peptide (ng/ml) was 44.60 (14.92-87.93), with an average of 81.92±130.93. Taking the two-fold upper limit of fasting insulin reference value (49.8 μU/ml) as the cut-off point, the subjects were divided into insulin accumulation group (baseline insulin≥49.8 μU/ml) and insulin non-accumulation group (baseline insulin <49.8 μU/ml). Among the 66 patients in the insulin accumulation group, 14 patients had hypoglycemia (21.21%) and 4 patients in the insulin non-accumulation group presented hypoglycemia (10%). The ratio of 4 minute insulin to baseline insulin, ratio of baseline insulin to C-peptide, blood glucose level standard deviation (SDBG) and maximum blood glucose fluctuation amplitude (LAGE) in the insulin accumulation group were significantly higher than those in the insulin non-accumulation group (all P<0.05). Among 66 patients in the insulin accumulation group, 36 patients changed the type of insulin preparafion (insulin treatment group), 30 patients were changed from insulin to oral hypoglycemic agents (oral medication group). After treatment, both SDBG and LAGE in the two groups were significantly lower than before treatment (P<0.05). \u0000 \u0000 \u0000Conclusions \u0000With the aggravation of exogenous insulin accumulation, the fluctuation of blood glucose and the proportion of hypoglycemia were significantly increased. There was a characteristic change in islet function in patients with insulin autoimmune syndrome. After arginine stimulation, there was no significant peak of insulin secretion, showing a \" high-level\" curve. The baseline insulin/C-peptide ratio was significantly increased. The prognosis of EIAS patients is good after timely diagnosis and adjustment of treatment. \u0000 \u0000 \u0000Key words: \u0000Diabetes mellitus, type 2; Insulin autoantibody; Exogenous insulin-related insulin autoimmune syndrome","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"304-308"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45694518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20190313-00088
Yingfang Yu, An Chen, Ji-yan Zheng, Lihua Chen, L. Du
Objective To explore the clinical and genetic characteristics of a Chinese baby with perinatal hypophosphatasia (HPP) and his parents for better understanding of the disease. Methods The clinical data of the patient with HPP was carefully collected. The laboratory and radiographic examination data were taken for this baby patient. Sequencing for all the twelve tissue-nonspecific alkaline phosphatase(ALPL) exons and the flanking exon-intron junctions were performed in the proband and his parents with their genomic DNA from peripheral blood. Results The blood level of alkaline phosphatase was decreased in this patient while serum calcium level was increased. His bone revealed chondrodysplasia-like change. Compound heterozygous mutations were found in the proband, with c. 346G>A(p.A116T) in exon 5 and c. 1171C>T(p.R391C) in exon 10. His father and mother were without clinical manifestation while respectively carried c. 346G>A(p.A116T and c. 1171C>T(p.R391C) missense mutations, suggesting an autosomal recessive inheritance in this family. Conclusion Perinatal HPP has a high mortality rate. Skeletal deformities, hypercalcemia, and low level of ALP are important in the differential diagnosis of perinatal HPP. Key words: Mutation; Hypophosphatasia; Alkaline phosphatase gene
{"title":"One patient with perinatal hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene","authors":"Yingfang Yu, An Chen, Ji-yan Zheng, Lihua Chen, L. Du","doi":"10.3760/CMA.J.CN311282-20190313-00088","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190313-00088","url":null,"abstract":"Objective \u0000To explore the clinical and genetic characteristics of a Chinese baby with perinatal hypophosphatasia (HPP) and his parents for better understanding of the disease. \u0000 \u0000 \u0000Methods \u0000The clinical data of the patient with HPP was carefully collected. The laboratory and radiographic examination data were taken for this baby patient. Sequencing for all the twelve tissue-nonspecific alkaline phosphatase(ALPL) exons and the flanking exon-intron junctions were performed in the proband and his parents with their genomic DNA from peripheral blood. \u0000 \u0000 \u0000Results \u0000The blood level of alkaline phosphatase was decreased in this patient while serum calcium level was increased. His bone revealed chondrodysplasia-like change. Compound heterozygous mutations were found in the proband, with c. 346G>A(p.A116T) in exon 5 and c. 1171C>T(p.R391C) in exon 10. His father and mother were without clinical manifestation while respectively carried c. 346G>A(p.A116T and c. 1171C>T(p.R391C) missense mutations, suggesting an autosomal recessive inheritance in this family. \u0000 \u0000 \u0000Conclusion \u0000Perinatal HPP has a high mortality rate. Skeletal deformities, hypercalcemia, and low level of ALP are important in the differential diagnosis of perinatal HPP. \u0000 \u0000 \u0000Key words: \u0000Mutation; Hypophosphatasia; Alkaline phosphatase gene","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"321-325"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49077568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20190430-00172
Xiaomei Lin, Bo Li, Keying Zhou, Yanmei Sang
Objective To analyze the clinical features of a kindred of X-linked adrenoleukodystrophy(X-ALD) with the onset of primary adrenocortical insufficiency, and to detect the mutation of ATP-binding cassette, sub-family D, member l(ABCD1) gene. Methods A Chinese X-ALD kindred with two affected males from two-generations was studied. The clinical data of the proband′s family members were collected. The sequences of ABCD1 of the proband, his parent and young brother were detected by next-generation sequencing. X-ALD was diagnosed according to clinical manifestations, cranial MRI image, and serum level of very long chain fatty acid(VLCFA). Results The two cases were all males. The proband was characteristic of primary adrenocortical insufficiency and neurological dysfunction, with extensive cerebral white matter demyelination and high serum VLCFA level. At the age of 2 years and 10 months, the younger brother of the proband presented with primary adrenocortical dysfunction, without neurological symptoms. Gene sequencing results of two patients showed a novel missense substitution(c.1666C>T) in exon 7 of ABCD1 inherited from their mother. Conclusion The new mutation of ABCDl gene c. 1666C>T may lead to adrenoleukodystrophy. Primary adrenocortical insufficiency and neurological dysfunction are the typical manifestations of X-ALD. Key words: X-linked adrenoleukodystrophy; ABCD1 gene; Mutation detection
{"title":"Clinical features and genetic mutation analysis in a family of X-linked adrenoleukodystrophy","authors":"Xiaomei Lin, Bo Li, Keying Zhou, Yanmei Sang","doi":"10.3760/CMA.J.CN311282-20190430-00172","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190430-00172","url":null,"abstract":"Objective \u0000To analyze the clinical features of a kindred of X-linked adrenoleukodystrophy(X-ALD) with the onset of primary adrenocortical insufficiency, and to detect the mutation of ATP-binding cassette, sub-family D, member l(ABCD1) gene. \u0000 \u0000 \u0000Methods \u0000A Chinese X-ALD kindred with two affected males from two-generations was studied. The clinical data of the proband′s family members were collected. The sequences of ABCD1 of the proband, his parent and young brother were detected by next-generation sequencing. X-ALD was diagnosed according to clinical manifestations, cranial MRI image, and serum level of very long chain fatty acid(VLCFA). \u0000 \u0000 \u0000Results \u0000The two cases were all males. The proband was characteristic of primary adrenocortical insufficiency and neurological dysfunction, with extensive cerebral white matter demyelination and high serum VLCFA level. At the age of 2 years and 10 months, the younger brother of the proband presented with primary adrenocortical dysfunction, without neurological symptoms. Gene sequencing results of two patients showed a novel missense substitution(c.1666C>T) in exon 7 of ABCD1 inherited from their mother. \u0000 \u0000 \u0000Conclusion \u0000The new mutation of ABCDl gene c. 1666C>T may lead to adrenoleukodystrophy. Primary adrenocortical insufficiency and neurological dysfunction are the typical manifestations of X-ALD. \u0000 \u0000 \u0000Key words: \u0000X-linked adrenoleukodystrophy; ABCD1 gene; Mutation detection","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"283-287"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48205430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20190710-00265
Yingfang Yu, An Chen, Ji-yan Zheng, Lihua Chen, L. Du
The clinical manifestation, laboratory findings, and imaging examination of a baby with familial glucocorticoid deficiency were summarized. The patient presented achypnea, cyanosis, and pigmentation of the whole body skin, no convulsion and hypoglycemia found. Laboratory findings revealed low blood cortisol and high blood ACTH levels. A 1-bp homozygous deletion(c.106+ 1delG) in intron 3 of melanocortin 2 receptor accessory protein(MRAP) gene in the patient was found. His parents were found to be heterozygous carrier for the same mutation, without any clinical manifestation. Key words: Familial glucocorticoid deficiency; ACTH unresponsiveness; Melanocortin 2 receptor accessory protein; Treatment
{"title":"Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: one case report","authors":"Yingfang Yu, An Chen, Ji-yan Zheng, Lihua Chen, L. Du","doi":"10.3760/CMA.J.CN311282-20190710-00265","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190710-00265","url":null,"abstract":"The clinical manifestation, laboratory findings, and imaging examination of a baby with familial glucocorticoid deficiency were summarized. The patient presented achypnea, cyanosis, and pigmentation of the whole body skin, no convulsion and hypoglycemia found. Laboratory findings revealed low blood cortisol and high blood ACTH levels. A 1-bp homozygous deletion(c.106+ 1delG) in intron 3 of melanocortin 2 receptor accessory protein(MRAP) gene in the patient was found. His parents were found to be heterozygous carrier for the same mutation, without any clinical manifestation. \u0000 \u0000Key words: \u0000Familial glucocorticoid deficiency; ACTH unresponsiveness; Melanocortin 2 receptor accessory protein; Treatment","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"294-298"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42564872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20191025-00447
Mi-la Jia, Bo Feng
Objective To explore the association of serum liver enzymes with thyroid hormones and Chinese visceral adipose index (CVAI) in patients with type 2 diabetes mellitus (T2DM), and to evaluate the influencing factors of liver enzymes. Methods A total of 700 patients with T2DM were divided into elevated liver enzyme group and normal liver enzyme group, or three groups according to tertiles in alanine aminotransferase (ALT), aspartate aminotransferase (AST), and glutamyltransferase (GGT). The differences of thyroid hormones and CVAI among groups were compared, and the correlations of liver enzyme levels with thyroid hormones and CVAI were determined. Results Compared with the normal liver enzyme group, thyroxine(T4)and CVAI were increased in the elevated liver enzyme group (P<0.05). Free triiodothyroid (FT3), triiodothyroid (T3), and T4 levels were elevated with the increase of ALT and AST (P<0.05). CVAI was elevated with the increase of ALT and GGT (P<0.05). Correlation analysis showed that FT3, T3, and T4were positively correlated with ALT and AST. ALT and GGT were positively correlated with CVAI. CVAI was positively correlated with FT3 and T3. HbA1Cwas negatively correlated with FT3, T4, and T3. Regression analysis showed that FT3, CVAI, and HbA1C were the influencing factors for ALT, T4 was the influencing factor for AST, T3 and HbA1Cwere the influencing factors for GGT. Conclusions In patients with T2DM, thyroid hormones and CVAI are correlated with liver enzymes. Key words: Diabetes mellitus, type 2; Alanine aminotransferase; Aspartate aminotransferase; Glutamyltransferase; Thyroid hormones; Chinese visceral adipose index
{"title":"Association of serum liver enzymes with thyroid hormones and Chinese visceral adipose index in patients with type 2 diabetes mellitus","authors":"Mi-la Jia, Bo Feng","doi":"10.3760/CMA.J.CN311282-20191025-00447","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20191025-00447","url":null,"abstract":"Objective \u0000To explore the association of serum liver enzymes with thyroid hormones and Chinese visceral adipose index (CVAI) in patients with type 2 diabetes mellitus (T2DM), and to evaluate the influencing factors of liver enzymes. \u0000 \u0000 \u0000Methods \u0000A total of 700 patients with T2DM were divided into elevated liver enzyme group and normal liver enzyme group, or three groups according to tertiles in alanine aminotransferase (ALT), aspartate aminotransferase (AST), and glutamyltransferase (GGT). The differences of thyroid hormones and CVAI among groups were compared, and the correlations of liver enzyme levels with thyroid hormones and CVAI were determined. \u0000 \u0000 \u0000Results \u0000Compared with the normal liver enzyme group, thyroxine(T4)and CVAI were increased in the elevated liver enzyme group (P<0.05). Free triiodothyroid (FT3), triiodothyroid (T3), and T4 levels were elevated with the increase of ALT and AST (P<0.05). CVAI was elevated with the increase of ALT and GGT (P<0.05). Correlation analysis showed that FT3, T3, and T4were positively correlated with ALT and AST. ALT and GGT were positively correlated with CVAI. CVAI was positively correlated with FT3 and T3. HbA1Cwas negatively correlated with FT3, T4, and T3. Regression analysis showed that FT3, CVAI, and HbA1C were the influencing factors for ALT, T4 was the influencing factor for AST, T3 and HbA1Cwere the influencing factors for GGT. \u0000 \u0000 \u0000Conclusions \u0000In patients with T2DM, thyroid hormones and CVAI are correlated with liver enzymes. \u0000 \u0000 \u0000Key words: \u0000Diabetes mellitus, type 2; Alanine aminotransferase; Aspartate aminotransferase; Glutamyltransferase; Thyroid hormones; Chinese visceral adipose index","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"326-329"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49013085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-25DOI: 10.3760/CMA.J.CN311282-20190911-00373
Yan Chen, Gang Chen
An article entitled " Therapeutic Effects of Endogenous Icretin Hormones and Exogenous Incretin-Based Medications in Sepsis" was published in November 2019 in JCEM[Faraaz AS, Hussain M, Teresa GM, et al. J Clin Endocrinol Metab, 2019, 104(11): 5274-5284]. We translated this article into Chinese after obtaining the copyright from the journal. Sepsis is currently defined as a life-threatening organ dysfunction caused by a host′s dysregulation of infection which can increase the risk of organ dysfunction and death if combined with abnormal blood glucose. For that reason, the authors believe that there is a need to find new targets for the treatment of sepsis and maintenance of blood glucose homeostasis. Incretin can regulate various functions, including islet hormone secretion, blood glucose concentration, lipid metabolism, intestinal motility, appetite, body weight, immune function, and so on. Nowadays the research on incretin in sepsis is still limited. The authors utilized the medical keywords " incretin" , " glucagon-like peptide-1" , " gastric inhibitory peptide" , " inflammation" and " sepsis" for Pubmed search in this small retrospective study. The results of preclinical research models and clinical trials suggest that incretin-based therapies can improve immune function, control blood glucose effectively and reduce the incidence and mortality of organ dysfunction. However, the authors believe that further clinical studies are still needed to observe the effects of incretin on sepsis. In summary, there is probably a way to maintain blood glucose homeostasis while reducing inflammation and improving clinical outcomes if the incretin hormone axis in sepsis is brought to attention. Key words: Sepsis; Incretin
{"title":"Incretin-the new therapeutic target of sepsis","authors":"Yan Chen, Gang Chen","doi":"10.3760/CMA.J.CN311282-20190911-00373","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190911-00373","url":null,"abstract":"An article entitled \" Therapeutic Effects of Endogenous Icretin Hormones and Exogenous Incretin-Based Medications in Sepsis\" was published in November 2019 in JCEM[Faraaz AS, Hussain M, Teresa GM, et al. J Clin Endocrinol Metab, 2019, 104(11): 5274-5284]. We translated this article into Chinese after obtaining the copyright from the journal. Sepsis is currently defined as a life-threatening organ dysfunction caused by a host′s dysregulation of infection which can increase the risk of organ dysfunction and death if combined with abnormal blood glucose. For that reason, the authors believe that there is a need to find new targets for the treatment of sepsis and maintenance of blood glucose homeostasis. Incretin can regulate various functions, including islet hormone secretion, blood glucose concentration, lipid metabolism, intestinal motility, appetite, body weight, immune function, and so on. Nowadays the research on incretin in sepsis is still limited. The authors utilized the medical keywords \" incretin\" , \" glucagon-like peptide-1\" , \" gastric inhibitory peptide\" , \" inflammation\" and \" sepsis\" for Pubmed search in this small retrospective study. The results of preclinical research models and clinical trials suggest that incretin-based therapies can improve immune function, control blood glucose effectively and reduce the incidence and mortality of organ dysfunction. However, the authors believe that further clinical studies are still needed to observe the effects of incretin on sepsis. In summary, there is probably a way to maintain blood glucose homeostasis while reducing inflammation and improving clinical outcomes if the incretin hormone axis in sepsis is brought to attention. \u0000 \u0000Key words: \u0000Sepsis; Incretin","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"352-356"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49438770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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