Elena-Silvia Shelby, R. Cocoș, M. Leanca, A. Mirea, D. Bârcă
Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the normal development of the kidneys, retina, brain, liver and skeletal system. The symptoms can consist in cystic renal disease and renal dystrophy, oculomotor apraxia, global developmental delay, hypotonia evolving into ataxia, skeletal and endocrine abnormalities, abnormal breathing patterns and congenital hepatic fibrosis, with the neurologic and ophthalmologic manifestations appearing early in life. The diagnostic hallmark is “the molar tooth sign”, a malformation of the brainstem and cerebellum easily identifiable using brain imaging techniques. As Joubert syndrome is a highly heterogeneous disease with a large type of phenotypes, it is oftentimes underdiagnosed. This article presents a case of Joubert syndrome type 17, a rare syndrome with many features overlapping orofaciodigital syndrome type VI. Adding to the rarity of this disease, our patient is homozygous and heterozygous for two pathogenic variants in C5orf42, with one located upstream of the other, thus manifesting the phenotype of a compound heterozygous in this gene. We believe that the presentation of this rare syndrome is useful to the pediatric practice by facilitating a fast diagnosis of these patients, which helps provide genetic counselling to the patients and their families.
{"title":"Phenotypic manifestations of C5orf42 pathogenic variants","authors":"Elena-Silvia Shelby, R. Cocoș, M. Leanca, A. Mirea, D. Bârcă","doi":"10.37897/rjp.2022.1.8","DOIUrl":"https://doi.org/10.37897/rjp.2022.1.8","url":null,"abstract":"Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the normal development of the kidneys, retina, brain, liver and skeletal system. The symptoms can consist in cystic renal disease and renal dystrophy, oculomotor apraxia, global developmental delay, hypotonia evolving into ataxia, skeletal and endocrine abnormalities, abnormal breathing patterns and congenital hepatic fibrosis, with the neurologic and ophthalmologic manifestations appearing early in life. The diagnostic hallmark is “the molar tooth sign”, a malformation of the brainstem and cerebellum easily identifiable using brain imaging techniques. As Joubert syndrome is a highly heterogeneous disease with a large type of phenotypes, it is oftentimes underdiagnosed. This article presents a case of Joubert syndrome type 17, a rare syndrome with many features overlapping orofaciodigital syndrome type VI. Adding to the rarity of this disease, our patient is homozygous and heterozygous for two pathogenic variants in C5orf42, with one located upstream of the other, thus manifesting the phenotype of a compound heterozygous in this gene. We believe that the presentation of this rare syndrome is useful to the pediatric practice by facilitating a fast diagnosis of these patients, which helps provide genetic counselling to the patients and their families.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43609224","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}
Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and genetical variability characterized by typical facial features, growth impairment and multi-organ anomalies. It is caused by mutations in the cohesin complex that is involved in regulation of gene expression. Growth disturbances are a major feature of the syndrome and have various underlying mechanisms. Other associations regarding endocrine function are represented by disturbances in the hypothalamic-pituitary axis, decreased bone density associated with fractures and genital malformations associated with menstrual irregularities and altered fertility.
Cornelia de Lange综合征是一种具有高度临床和遗传变异性的发育障碍，其特征是典型的面部特征、生长障碍和多器官异常。它是由参与基因表达调控的粘着蛋白复合体的突变引起的。生长障碍是该综合征的一个主要特征，并具有多种潜在机制。与内分泌功能有关的其他关联表现为下丘脑-垂体轴紊乱、与骨折相关的骨密度降低以及与月经不规律和生育能力改变相关的生殖器畸形。
{"title":"An Endocrinological approach to Cornelia de Lange Syndrome","authors":"M. Iancu, A. Albu, R. Vlad, D. Albu","doi":"10.37897/rjp.2022.1.1","DOIUrl":"https://doi.org/10.37897/rjp.2022.1.1","url":null,"abstract":"Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and genetical variability characterized by typical facial features, growth impairment and multi-organ anomalies. It is caused by mutations in the cohesin complex that is involved in regulation of gene expression. Growth disturbances are a major feature of the syndrome and have various underlying mechanisms. Other associations regarding endocrine function are represented by disturbances in the hypothalamic-pituitary axis, decreased bone density associated with fractures and genital malformations associated with menstrual irregularities and altered fertility.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49184805","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}
Introduction. Phenylketonuria (PKU) is the most frequent inborn metabolism error. The principal determinant factor for the metabolic phenotype in PKU is the residual enzymatic activity, which is determined by the variations in the phenylalanine hydroxylase (PAH) gene. To date, there are known over 1200 PAH gene variants contained in the PAH International Database of Variations in Phenylalanine Hydroxylase Gene (PAHvdb). Aim. The aim of this study is to elaborate an updated PAH variant report with their type, localization, frequency and severity. Material and method. The PAH variant analysis was made using PAHvdb. PAHvdb presently contains 1285 PAH variants and is connected to BIOPKU genotype-phenotype database which has anonymized information from nearly 18000 PKU patients, with data regarding the genotype and the correspondent phenotype. Results. From the 1285 studied variants, the most frequent variants are substitutions – 1051 (81.8%) and deletions – 150 (11.7 %). The majority (723 - 56.3%) is represented by missense mutations, followed in frequency by frameshift variants - 177 (13.8%), splice ESS (Exonic Splicing Silencer) variants - 127 (9.9%) and nonsense mutations - 86 (6.7%). The most affected region of the gene is exon 6 (169 variants), followed by exon 7 (151 variants), exon 3 (130 variants) and exon 11 (121 variants). The majority of variants are located in the catalytic (57.66%) domain. The most frequent 3 alleles are c.1222C>T with a frequency of 19,2%, c.1066-11G>A with a frequency of 6,8% and c.782G>A with a frequency of 5.5%. From the total 1285 variants, 488 (38.5%) cause a severe phenotype, 57 (4.9%) cause a moderate phenotype and 74 (6%) cause a mild phenotype; in the case of 666 variants (50,6%) which have a low allelic frequency the metabolic phenotype couldn’t be established. Discussions. The majority of the variants are substitutions, missense in the catalytic domain of the gene, on the 6th exon. Approximatively 50% of the alleles are found in single patients so they can’t be used for phenotypic prediction. The majority of variants are causing a severe phenotype. Conclusion. The existence of a database with a large number of PKU patients and PAH variants brings an important contribution to the understanding of the genotype-phenotype relation and to the capacity of better phenotypical prediction based on genotype.
{"title":"Genetic variation in phenylketonuria: analysis of the PAHvdb database","authors":"A. Iuhas, Claudia Jurca, M. Bembea","doi":"10.37897/rjp.2022.1.6","DOIUrl":"https://doi.org/10.37897/rjp.2022.1.6","url":null,"abstract":"Introduction. Phenylketonuria (PKU) is the most frequent inborn metabolism error. The principal determinant factor for the metabolic phenotype in PKU is the residual enzymatic activity, which is determined by the variations in the phenylalanine hydroxylase (PAH) gene. To date, there are known over 1200 PAH gene variants contained in the PAH International Database of Variations in Phenylalanine Hydroxylase Gene (PAHvdb). Aim. The aim of this study is to elaborate an updated PAH variant report with their type, localization, frequency and severity. Material and method. The PAH variant analysis was made using PAHvdb. PAHvdb presently contains 1285 PAH variants and is connected to BIOPKU genotype-phenotype database which has anonymized information from nearly 18000 PKU patients, with data regarding the genotype and the correspondent phenotype. Results. From the 1285 studied variants, the most frequent variants are substitutions – 1051 (81.8%) and deletions – 150 (11.7 %). The majority (723 - 56.3%) is represented by missense mutations, followed in frequency by frameshift variants - 177 (13.8%), splice ESS (Exonic Splicing Silencer) variants - 127 (9.9%) and nonsense mutations - 86 (6.7%). The most affected region of the gene is exon 6 (169 variants), followed by exon 7 (151 variants), exon 3 (130 variants) and exon 11 (121 variants). The majority of variants are located in the catalytic (57.66%) domain. The most frequent 3 alleles are c.1222C>T with a frequency of 19,2%, c.1066-11G>A with a frequency of 6,8% and c.782G>A with a frequency of 5.5%. From the total 1285 variants, 488 (38.5%) cause a severe phenotype, 57 (4.9%) cause a moderate phenotype and 74 (6%) cause a mild phenotype; in the case of 666 variants (50,6%) which have a low allelic frequency the metabolic phenotype couldn’t be established. Discussions. The majority of the variants are substitutions, missense in the catalytic domain of the gene, on the 6th exon. Approximatively 50% of the alleles are found in single patients so they can’t be used for phenotypic prediction. The majority of variants are causing a severe phenotype. Conclusion. The existence of a database with a large number of PKU patients and PAH variants brings an important contribution to the understanding of the genotype-phenotype relation and to the capacity of better phenotypical prediction based on genotype.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44879360","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}
Herbal medicine is a mild and well-tolerated alternative treatment method that could be used to treat pediatric respiratory ailments. Medicinal plants such as captalan, geranium, turmeric or echinacea have been shown in numerous studies to have the ability to significantly improve the respiratory function of pediatric patients and may thus be a viable alternative to conventional treatments in acute and chronic respiratory diseases.
{"title":"Use of phytotherapy in pediatric respiratory diseases","authors":"C. Munteanu","doi":"10.37897/rjp.2022.1.3","DOIUrl":"https://doi.org/10.37897/rjp.2022.1.3","url":null,"abstract":"Herbal medicine is a mild and well-tolerated alternative treatment method that could be used to treat pediatric respiratory ailments. Medicinal plants such as captalan, geranium, turmeric or echinacea have been shown in numerous studies to have the ability to significantly improve the respiratory function of pediatric patients and may thus be a viable alternative to conventional treatments in acute and chronic respiratory diseases.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48049858","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}
Andreea Sălcudean, M. Cosma, Andreea-Georgiana Nan, Monica Kiss, Maria-Melania Lica (Cozma), C. Bodo, G. Strete
The aim of this review study is to analyze and describe the main moral and ethical aspects regarding the minor patients' healthcare related procedures. The Pediatric Ethics differentiate from that of the competent adults, such particularities including surrogate decisions, confidentiality issues, genetic testing and research related matters, end-of-life situations and legal framework. An important aspect is that the child is not entirely lacking capacity, in fact, the literature underlines the importance of listening, analyzing and taking into consideration the minor patient’s opinions, statements or judgements according to their age and cognitive development. The approach of the minor patient should always take into account the triad “doctor-parent-child” without neglecting any of the participants and their role. The main responsibility of the healthcare professionals is to act guided by the best interests of the minor patient.
{"title":"Ethical dilemmas and conflicts in minor patients’ care – general review","authors":"Andreea Sălcudean, M. Cosma, Andreea-Georgiana Nan, Monica Kiss, Maria-Melania Lica (Cozma), C. Bodo, G. Strete","doi":"10.37897/rjp.2022.1.5","DOIUrl":"https://doi.org/10.37897/rjp.2022.1.5","url":null,"abstract":"The aim of this review study is to analyze and describe the main moral and ethical aspects regarding the minor patients' healthcare related procedures. The Pediatric Ethics differentiate from that of the competent adults, such particularities including surrogate decisions, confidentiality issues, genetic testing and research related matters, end-of-life situations and legal framework. An important aspect is that the child is not entirely lacking capacity, in fact, the literature underlines the importance of listening, analyzing and taking into consideration the minor patient’s opinions, statements or judgements according to their age and cognitive development. The approach of the minor patient should always take into account the triad “doctor-parent-child” without neglecting any of the participants and their role. The main responsibility of the healthcare professionals is to act guided by the best interests of the minor patient.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48555334","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}
C. Singer, S. Coşoveanu, I. Petrescu, Simona Godeanu, Alexandra Dan, M. Popescu, M. Singer
We present the case of a girl, aged 7 years, from rural area, admitted to our clinic with frontal and occipital headache and intermittent ocular pain, which started three weeks before admission; no pathologic antecedents. When admitted, weight=51 kg, height=124 cm (BMI=36.16), no fever but with modified general state, excessive subcutaneous cellular tissue, normal cardio-pulmonary and digestive state, without meningeal symptoms. BP= 90/62 mmHg, HR= 80 b/min.; eye fundus examination at admission: both eyes - papillae with a faded, prominent contour/lineament, multiple hemorrhages with a peripapillary location and several soft exudates (RE > LE), maculae with preserved reflex; diagnosis: papillary edema. Head computed tomography, normal cerebral and cervical spine NMR, and normal aspect in hypophysis NMR; hemogram, renal and hepatic investigations, ionogram, glycaemia – normal values; the TORCH test pointed out increased values for IgM Toxoplasma 1.24 UI/ml (N= 0-0.8) and for IgG Toxoplasma 36.31 UI/ml (n=0-10). We excluded: cerebral edema, malformations, hypophysis or optical chiasma tumors, Arnold-Chiari malformation. We decided for the ocular toxoplasmosis diagnosis and the patient was sent to the infectious disease physician for an antiparasitic treatment. Before starting it, the patient no longer complained of headaches and the eye fundus exam was normal, most likely because of seroconversion, with a decrease of IgM and an increase of IgG Toxoplasmosis, as shown by the TORCH test. The patient remained in our clinic’s evidence, returning for regular ophthalmologic examination, and with a good evolution.
{"title":"Atypical Form of Ocular Toxoplasmosis","authors":"C. Singer, S. Coşoveanu, I. Petrescu, Simona Godeanu, Alexandra Dan, M. Popescu, M. Singer","doi":"10.37897/rjp.2022.1.7","DOIUrl":"https://doi.org/10.37897/rjp.2022.1.7","url":null,"abstract":"We present the case of a girl, aged 7 years, from rural area, admitted to our clinic with frontal and occipital headache and intermittent ocular pain, which started three weeks before admission; no pathologic antecedents. When admitted, weight=51 kg, height=124 cm (BMI=36.16), no fever but with modified general state, excessive subcutaneous cellular tissue, normal cardio-pulmonary and digestive state, without meningeal symptoms. BP= 90/62 mmHg, HR= 80 b/min.; eye fundus examination at admission: both eyes - papillae with a faded, prominent contour/lineament, multiple hemorrhages with a peripapillary location and several soft exudates (RE > LE), maculae with preserved reflex; diagnosis: papillary edema. Head computed tomography, normal cerebral and cervical spine NMR, and normal aspect in hypophysis NMR; hemogram, renal and hepatic investigations, ionogram, glycaemia – normal values; the TORCH test pointed out increased values for IgM Toxoplasma 1.24 UI/ml (N= 0-0.8) and for IgG Toxoplasma 36.31 UI/ml (n=0-10). We excluded: cerebral edema, malformations, hypophysis or optical chiasma tumors, Arnold-Chiari malformation. We decided for the ocular toxoplasmosis diagnosis and the patient was sent to the infectious disease physician for an antiparasitic treatment. Before starting it, the patient no longer complained of headaches and the eye fundus exam was normal, most likely because of seroconversion, with a decrease of IgM and an increase of IgG Toxoplasmosis, as shown by the TORCH test. The patient remained in our clinic’s evidence, returning for regular ophthalmologic examination, and with a good evolution.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48736483","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}
I. Muntean, Asmaa Carla Hagău, Amalia Făgărășan, C. Șuteu
In 2020, World Health Organization declared the infection with COVID-19 a pandemic. Even though the risk of infestation and mortality is lower in children than in adults, children are more prone to develop a hyperimmune state after COVID-19 infection called pediatric multi-system inflammatory syndrome or PIMS. In PIMS, cardiovascular involvement with myocardial injury is present in most patients. Due to the novelty of this pathology, little is known about the implication on the cardiovascular system. This review focuses on the most recent data published on the pediatric multi-system inflammatory syndrome associated with COVID-19 infection, pathophysiological mechanisms, and especially cardiovascular involvement. Furthermore, it emphasizes the role of pediatric cardiologists in its management.
{"title":"Cardiovascular involvement in Pediatric multisystemic inflammatory syndrome temporally associated with COVID-19 infection","authors":"I. Muntean, Asmaa Carla Hagău, Amalia Făgărășan, C. Șuteu","doi":"10.37897/rjp.2022.1.2","DOIUrl":"https://doi.org/10.37897/rjp.2022.1.2","url":null,"abstract":"In 2020, World Health Organization declared the infection with COVID-19 a pandemic. Even though the risk of infestation and mortality is lower in children than in adults, children are more prone to develop a hyperimmune state after COVID-19 infection called pediatric multi-system inflammatory syndrome or PIMS. In PIMS, cardiovascular involvement with myocardial injury is present in most patients. Due to the novelty of this pathology, little is known about the implication on the cardiovascular system. This review focuses on the most recent data published on the pediatric multi-system inflammatory syndrome associated with COVID-19 infection, pathophysiological mechanisms, and especially cardiovascular involvement. Furthermore, it emphasizes the role of pediatric cardiologists in its management.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44600153","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}
Emma Constantinescu, Teodora Jescu, Cristian Carstoiu, M. Popescu
{"title":"Articles REVIEW – Romanian Journal of Pediatrics (RJP), 2nd issue, 2018","authors":"Emma Constantinescu, Teodora Jescu, Cristian Carstoiu, M. Popescu","doi":"10.37897/rjp.2018.5.2","DOIUrl":"https://doi.org/10.37897/rjp.2018.5.2","url":null,"abstract":"","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46200306","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}
Iodine deficiency in pregnant women can lead to abortion, dysgravidy, intrauterine growth restriction, premature birth, low birth weight, which places the pregnant woman in a group with increased vulnerability to the lack of adequate amounts of iodine. Iodine deficiency in pregnancy can lead to increased perinatal and infant mortality and the prevalence of congenital anomalies. All these aspects shed new light on the many side effects of iodine deficiency during pregnancy. The present paper aligns with the general trend of assessing the maternal-fetal thyroid hormone status and establishing the most accurate indicators for its quantification and taking into account the degree of iodine deficiency and prematurity.
{"title":"Iodine intake and neonatal thyroid function: A never-ending story","authors":"V. Varlas, R. Bors, R. Bohîlţea, Vlad Dima","doi":"10.37897/rjp.2021.4.1","DOIUrl":"https://doi.org/10.37897/rjp.2021.4.1","url":null,"abstract":"Iodine deficiency in pregnant women can lead to abortion, dysgravidy, intrauterine growth restriction, premature birth, low birth weight, which places the pregnant woman in a group with increased vulnerability to the lack of adequate amounts of iodine. Iodine deficiency in pregnancy can lead to increased perinatal and infant mortality and the prevalence of congenital anomalies. All these aspects shed new light on the many side effects of iodine deficiency during pregnancy. The present paper aligns with the general trend of assessing the maternal-fetal thyroid hormone status and establishing the most accurate indicators for its quantification and taking into account the degree of iodine deficiency and prematurity.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47894637","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}
Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors. Establishing a genotype=phenotype correlation, accessible today through molecular testing, is an important instrument for diagnostical accuracy, personalized therapy, better evaluation of the prognostic and an optimal genetical advice. Objective. The article aims to make an analyze of the most recent progress made in the effort of increasing the predictive value of genotyping in establishing the evolution and the severity of the disease. Material and method. For this review there were analyzed article from specialty journals indexed to Pubmed database, published mainly in the last 10 years. Results. Genotype-phenotype correlations can be established in most patients, but in approximative 10% of cases there are discordances between previously reported data and the result found in some studies. This mismatch results from the allelic interaction in compound heterozygous, not yet fully understood, from the existence of variants with unpredictable evolution and from other, non-genetical factors. Conclusions. The genotype-phenotype relationship is increasingly better understood. Molecular testing in phenylketonuria and phenotypical predictions based on the genotype, obtained by comparison with international databases, have clinical importance for the genetic advice given to the family and for the therapeutic decision, among other reasons.
{"title":"Genotype-phenotype correlation in phenylketonuria","authors":"A. Iuhas, Claudia Jurca, M. Bembea","doi":"10.37897/rjp.2021.4.2","DOIUrl":"https://doi.org/10.37897/rjp.2021.4.2","url":null,"abstract":"Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors. Establishing a genotype=phenotype correlation, accessible today through molecular testing, is an important instrument for diagnostical accuracy, personalized therapy, better evaluation of the prognostic and an optimal genetical advice. Objective. The article aims to make an analyze of the most recent progress made in the effort of increasing the predictive value of genotyping in establishing the evolution and the severity of the disease. Material and method. For this review there were analyzed article from specialty journals indexed to Pubmed database, published mainly in the last 10 years. Results. Genotype-phenotype correlations can be established in most patients, but in approximative 10% of cases there are discordances between previously reported data and the result found in some studies. This mismatch results from the allelic interaction in compound heterozygous, not yet fully understood, from the existence of variants with unpredictable evolution and from other, non-genetical factors. Conclusions. The genotype-phenotype relationship is increasingly better understood. Molecular testing in phenylketonuria and phenotypical predictions based on the genotype, obtained by comparison with international databases, have clinical importance for the genetic advice given to the family and for the therapeutic decision, among other reasons.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42443358","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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