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Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute. 原发性远端肾小管酸中毒儿童的表型和基因型:北印度教学学院的10年经验。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-03 eCollection Date: 2022-09-01 DOI: 10.1055/s-0041-1724114
Lesa Dawman, Karalanglin Tiewsoh, Prabal Barman, Kambagiri Pratyusha, Lalawmpuia Chaakchhuak, Indar Kumar Sharawat

Primary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes ATP6V0A4 , ATP6V1B1 , SLC4A1 , FOXI1 , or WDR72 ), which causes tubular transport defects characterized by an inability to appropriately acidify urine with resultant persistent hyperchloremic metabolic acidosis. Retrospective analysis of 28 children (14 males) under the age of 14 years with dRTA seen from 2010 to 2019 was reviewed, and detailed clinic records were analyzed. The clinical features, investigations, and response to treatment were recorded. The median age of the children at presentation was 30 months (range: 9.25-72 months), and the median age at onset of symptoms was 2 months. All the children had growth failure, polyuria, and polydipsia at presentation. Mean serum potassium, pH, bicarbonate, and anion gap at presentation was 2.3 ± 0.5 mmol/L, 7.22 ± 0.09, 13.28 ± 4.37 mmol/L, and 9.3 ± 2.18, respectively. Mean serum potassium, pH, bicarbonate at follow-up was 3.88 ± 0.6 mmol/L, 7.35 ± 0.06, and 20.13 ± 4.17 mmol/L, respectively. The median z-score for the weight for age and height for age at initial presentation was -4.77 (-7.68 to -3.74) and -4.21 (-5.42 to -2.37) and at follow-up was -3.35 (-5.29 to -1.55) and -3.84 (-5.36 to -1.63), respectively. Twenty-two (78.6%) children had medullary nephrocalcinosis. Four children had sensorineural hearing loss. Seven children had genetic testing done, and six had pathogenic or likely pathogenic variants in ATP6V1B1 and ATP6V0A4 gene. Children with dRTA have a guarded prognosis and ATP6V1B1 and ATP6V0A4 mutations are the most common implicated genetic defect in Indian children with distal RTA.

儿童原发性远端肾小管酸中毒(dRTA)或1型RTA是由遗传缺陷引起的(涉及基因ATP6V0A4、ATP6V1B1、SLC4A1、FOXI1或WDR72),导致小管运输缺陷,其特征是无法适当酸化尿液,从而导致持续的高氯血症代谢性酸中毒。回顾性分析2010 - 2019年28例14岁以下dRTA患儿(男14例)的临床资料。记录临床特征、调查和对治疗的反应。患儿就诊时的中位年龄为30个月(范围:9.25-72个月),出现症状的中位年龄为2个月。所有患儿在就诊时均有生长衰竭、多尿和烦渴。患者就诊时平均血清钾、pH、碳酸氢盐和阴离子间隙分别为2.3±0.5 mmol/L、7.22±0.09、13.28±4.37 mmol/L和9.3±2.18。随访时平均血钾、pH、碳酸氢盐分别为3.88±0.6 mmol/L、7.35±0.06、20.13±4.17 mmol/L。初诊时年龄体重和年龄身高的中位数z得分分别为-4.77(-7.68至-3.74)和-4.21(-5.42至-2.37),随访时分别为-3.35(-5.29至-1.55)和-3.84(-5.36至-1.63)。22例(78.6%)患儿有髓质肾钙质沉着症。4名儿童有感音神经性听力损失。7名儿童进行了基因检测,其中6名患有ATP6V1B1和ATP6V0A4基因的致病性或可能致病性变异。dRTA患儿预后不佳,ATP6V1B1和ATP6V0A4突变是印度远端RTA患儿中最常见的遗传缺陷。
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引用次数: 0
Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges. 常染色体隐性多囊肾病的临床特点和诊断挑战。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-07-29 DOI: 10.1055/s-0040-1714701
Dorota Wicher, Łukasz Obrycki, Irena Jankowska

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). Clinical features also include growth failure and neurocognitive impairment. Plurality of clinical aspects requires multidisciplinary approach to treatment and care of patients. Until recently, diagnosis was based on clinical criteria. Results of genetic testing show the molecular basis of polycystic kidneys disease is heterogeneous, and differential diagnosis is essential. The aim of the article is to discuss the role of genetic testing and its difficulties in diagnostics of ARPKD in children.

常染色体隐性多囊肾病(ARPKD)是最常见的纤毛病之一,伴有肾脏(肾小球、高血压、肾功能不全)和肝脏(先天性肝纤维化、胆管扩张)受累。临床特征还包括生长衰竭和神经认知障碍。临床方面的多元化需要多学科的方法来治疗和护理患者。直到最近,诊断都是基于临床标准。基因检测结果显示多囊肾疾病的分子基础是异质性的,鉴别诊断是必要的。本文的目的是讨论基因检测在儿童ARPKD诊断中的作用及其困难。
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引用次数: 6
Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients. 泰国儿童急性淋巴细胞白血病患者6-巯基嘌呤诱导骨髓抑制的药物代谢酶基因多态性
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-09-08 DOI: 10.1055/s-0040-1715818
Kanyarat Khaeso, Nontaya Nakkam, Patcharee Komwilaisak, Piyathida Wongmast, Su-On Chainansamit, Areerat Dornsena, Sirimas Kanjanawart, Suda Vannaprasaht, Wichittra Tassaneeyakul

Genetic polymorphisms of thiopurine S-methyltransferase (TPMT) and nucleoside diphosphate-linked moiety X-type motif 15 ( NUDT15 ) genes have been proposed as key determinants of 6-mercaptopurine (6-MP)-induced myelosuppression in pediatric acute lymphoblastic leukemia (ALL). In the present study, genotypes of TPMT and NUDT15 were investigated in 178 Thai pediatric patients with ALL by the TaqMan SNP genotyping assay and DNA sequencing. The frequency of TPMT*3C was 0.034. Among NUDT15 variants, NUDT15*3 is the most common variant with the allele frequency of 0.073, whereas those of NUDT15*2 , NUDT15*5 , and NUDT15*6 variants were 0.022, 0.011, and 0.039. These data suggest that a high proportion of Thai pediatric ALL patients may be at risk of thiopurine-induced myelosuppression.

巯基嘌呤s -甲基转移酶(TPMT)和核苷二磷酸连接片段x型基序15 (NUDT15)基因的遗传多态性被认为是6-巯基嘌呤(6-MP)诱导的小儿急性淋巴细胞白血病(ALL)骨髓抑制的关键决定因素。本研究通过TaqMan SNP基因分型和DNA测序对178例泰国ALL患儿的TPMT和NUDT15基因型进行了研究。TPMT*3C的频率为0.034。在NUDT15变异中,以NUDT15*3最为常见,等位基因频率为0.073,而NUDT15*2、NUDT15*5和NUDT15*6的等位基因频率分别为0.022、0.011和0.039。这些数据表明,很大比例的泰国儿科ALL患者可能存在硫嘌呤诱导的骨髓抑制风险。
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引用次数: 1
Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case. 假性甲状旁腺功能减退伴异位钙化和22q11缺失综合征:一例罕见病例。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-02-12 DOI: 10.1055/s-0040-1701640
Bruna Lixinski Diniz, Andressa Barreto Glaeser, Desirée Deconte, Bruna Baierle Guaraná, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen

Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by resistance or nonresponse to parathyroid hormone (PTH) function. Association between PHP and 22q11DS, also known as DiGeorge syndrome, is rare, especially in children. We describe a newborn girl diagnosed with 22q11DS, presenting ectopic calcifications in soft tissue and suspicion of PHP. PTH function showed values close to the upper limit of the reference value. Radiology showed bone callus in the right wrist. PHP can be a new clinical finding associated with 22q11DS. Parathyroid function investigation in individuals with 22q11DS, presenting bone dysmorphisms and/or calcium metabolism alterations, should be considered.

软组织异位钙化与几种疾病有关,包括假性甲状旁腺功能低下(PHP),其特征是对甲状旁腺激素(PTH)功能有抵抗或无反应。PHP和22q11DS(也称为diggeorge综合征)之间的联系是罕见的,特别是在儿童中。我们描述了一个新生女孩诊断为22q11DS,表现为软组织异位钙化和怀疑PHP。PTH函数显示的值接近参考值的上限。放射学显示右手腕骨痂。PHP可能是与22q11DS相关的一个新的临床发现。应考虑对22q11DS患者进行甲状旁腺功能调查,这些患者出现骨畸形和/或钙代谢改变。
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引用次数: 2
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum. 亚洲印度杜氏肌营养不良表型患者的新一代测序:诊断产量和突变谱。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-07-08 DOI: 10.1055/s-0040-1713850
Gayatri Nerakh, Prajnya Ranganath, Sakthivel Murugan

Multiplex ligation-dependent probe amplification (MLPA) detects exonic deletions and duplications in the DMD gene in around 65 to 70% of patients with the Duchenne muscular dystrophy (DMD) phenotype. This study looks at the diagnostic yield of next-generation sequencing (NGS) and the mutation spectrum in an Asian Indian cohort of MLPA-negative cases with the DMD phenotype. NGS-based sequencing of DMD gene was done in 28 MLPA-negative cases (25 male probands with the DMD phenotype and 3 obligate carrier mothers of deceased affected male patients) and disease-causing variants were identified in 19 (67.9%) of these cases. Further molecular testing in four of the remaining nine cases revealed gene variants associated with limb girdle muscular dystrophies. Thus, NGS-based multigene panel testing for muscular dystrophy-associated genes or clinical exome sequencing rather than targeted DMD gene sequencing appears to be a more cost-effective testing modality with better diagnostic yield, for MLPA-negative patients with the DMD phenotype.

多重连接依赖探针扩增(MLPA)在约65%至70%的杜氏肌营养不良(DMD)表型患者中检测到DMD基因的外显子缺失和重复。本研究着眼于下一代测序(NGS)的诊断率和亚洲印度人群中具有DMD表型的mlpa阴性病例的突变谱。对28例mlpa阴性病例(25例DMD表型男性先显子和3例已故患病男性患者的专性携带母亲)进行了基于ngs的DMD基因测序,其中19例(67.9%)发现了致病变异。对其余9例中的4例进行进一步的分子检测,发现了与肢体带状肌营养不良症相关的基因变异。因此,对于具有DMD表型的mlpa阴性患者,基于ngs的肌营养不良相关基因的多基因面板检测或临床外显子组测序,而不是靶向DMD基因测序,似乎是一种更具成本效益的检测方式,诊断率更高。
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引用次数: 6
Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype? 间质性4号染色体缺失4q25-28.3新生儿肾发育不良和进行性肾功能衰竭:一种新的表型?
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-01-22 DOI: 10.1055/s-0039-1701043
Cláudia Teles-Silva, Francisca Martins, Sandra Costa, Paulo Soares, Gustavo Rocha, Filipa Flor-de-Lima, Helena Pinto, Carla Ramalho, Renata Oliveira, Otília Brandão, Hercília Guimarães

The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was born with generalized subcutaneous edema, several dysmorphic features, and progressive renal failure requiring dialysis. The infant continued to deteriorate and died at 52 days of age. Autopsy confirmed bilateral renal dysplasia with cysts. Array-comparative genomic hybridization (CGH) identified a large deletion on 4q25-q28.3, which is not yet described in association with renal disease. The clinical progression could be expected due to the severity of the perinatal clinical presentation.

4号染色体长臂的缺失是罕见的,表现为不同的表型,取决于受影响的染色体区域。一个足月新生儿,产前诊断为羊水无、发育不良的囊性肾和心脏肿大,出生时伴有全身皮下水肿、几种畸形特征和进行性肾衰竭,需要透析。婴儿病情继续恶化,并于52日龄死亡。尸检证实双侧肾发育不良伴囊肿。阵列-比较基因组杂交(CGH)发现了4q25-q28.3上的一个大缺失,尚未描述其与肾脏疾病的关联。由于围产期临床表现的严重程度,临床进展可以预期。
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引用次数: 0
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss. 完全迷路发育不全:听力损失基因检测的独特标志。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-03-09 DOI: 10.1055/s-0040-1708052
Meenakshi Lallar, Veronica Arora, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma

Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Genetic evaluation provided the family with confirmation of the diagnosis, provision of the prognosis, genetic counselling, and prenatal diagnosis. This report highlighted that CLA should be recognized as a unique sign to diagnose LAMM syndrome, to analyze FGF3 gene mutation, and also demonstrated the utility of genetic testing in patients with suspected LAMM syndrome to provide exact diagnosis and further management.

完全迷路发育不全(CLA)是一种罕见的内耳异常。唯一确定的CLA伴严重感音神经性听力损失的遗传原因是迷路发育不全、小牙畸形和小牙畸形(LAMM)综合征。在这里,我们报告了一个儿童谁提出综合征听力损失,并被诊断为LAMM综合征。遗传评估为家庭提供诊断确认、提供预后、遗传咨询和产前诊断。本报告强调了CLA应被视为LAMM综合征诊断的独特标志,分析FGF3基因突变,并证明了基因检测在疑似LAMM综合征患者中的应用,以提供准确的诊断和进一步的治疗。
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引用次数: 2
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. 一种不寻常的关联:猫眼综合征患者的肺静脉完全异常回流和主动脉弓梗阻。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-01-20 DOI: 10.1055/s-0039-1701020
Jason L Williams, Marie T McDonald, Bryce A Seifert, Kristen L Deak, Catherine W Rehder, Michael J Campbell

Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chromosome 22. Congenital heart disease is associated with CES. One of the most common heart defects in patients with CES is total anomalous pulmonary venous return (TAPVR). In this article, we reported patients with a rare association of concomitant TAPVR and aortic arch obstruction: one with interrupted aortic arch and the other with coarctation of the aorta with an aberrant right subclavian artery.

猫眼综合征(CES)是一种罕见的遗传缺陷,其特征是虹膜结肠瘤、耳前皮赘和肛门畸形。这种缺陷是由22号染色体近端长臂(q)的重复或三倍引起的,每15万人中就有1人患有这种缺陷。先天性心脏病与CES有关。完全性肺静脉回流异常(TAPVR)是CES患者最常见的心脏缺陷之一。在这篇文章中,我们报道了一组罕见的伴有TAPVR和主动脉弓梗阻的患者:一名主动脉弓中断,另一名主动脉弓缩窄伴右锁骨下动脉异常。
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引用次数: 5
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis. 一种新的KAT6A移码突变与胰脏闭锁有关。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-04-25 DOI: 10.1055/s-0040-1710330
Fady P Marji, Jennifer A Hall, Erin Anstadt, Suneeta Madan-Khetarpal, Jesse A Goldstein, Joseph E Losee

De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. Here, we reported a 16-year-old girl with a novel pathogenic variant of the KAT6A gene. She is the first case to possess pancraniosynostosis, a rare suture fusion pattern, affecting all her major cranial sutures. The diagnosis of KAT6A syndrome is established via recognition of its inherent phenotypic features and the utilization of whole exome sequencing. Thorough craniofacial evaluation is imperative, craniosynostosis may require operative intervention, the delay of which may be detrimental.

KAT6A基因的从头杂合突变引起一种独特的智力残疾综合征,其特征包括语言延迟、心脏异常、颅面畸形和颅缝闭合。在这里,我们报道了一名16岁的女孩携带一种新的KAT6A基因致病性变异。她是第一例胰脏缝膜闭锁,这是一种罕见的缝合融合模式,影响了她所有的主要颅骨缝合线。KAT6A综合征的诊断是通过识别其固有的表型特征和利用全外显子组测序来建立的。彻底的颅面评估是必要的,颅缝闭锁可能需要手术干预,其延迟可能是有害的。
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引用次数: 6
Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents. 肥胖土耳其儿童和青少年脂肪量和肥胖相关基因rs1421085和rs9939609多态性与高密度脂蛋白胆固醇和甘油三酯的关系
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-03-01 Epub Date: 2020-06-10 DOI: 10.1055/s-0040-1713154
Nihal Inandiklioğlu, Adem Yaşar

Several studies have shown that rs9939609 and rs1421085 in fat mass and obesity-associated ( FTO ) gene rs17782313 and rs12970134 in melanocortin-4 receptor ( MC4R ) gene influence obesity. In the present study, we aimed to determine association between rs9939609, rs1421085, rs17782313, and rs12970134 polymorphism, and their relation with body mass index (BMI), glucose, insulin, homeostasis model assessment of insulin resistance (HOMA-IR) and lipid values in obese children. We included 100 newly diagnosed obese children and 100 healthy children. The rs1421085 (CC/CT) ( p  = 0.019) and rs9939609 (AA/AT) ( p  = 0.002) polymorphism regions were higher in the obese group. Additionally, we found that both the rs1421085 (CC/CT) and rs9939609 (AA/AT) polymorphism associated with high-density lipoprotein cholesterol ( p  = 0.011 and p  = 0.003) and triglycerides ( p  = 0.01 and p  = 0.004) level, respectively. Further, the rs9939609 and rs1421085 variants of FTO gene associated with HDL-cholesterol and triglycerides levels in obese children; however, updated studies with a large sample size are required to establish strong links with genetic variants and risk factors in childhood obesity.

多项研究表明,脂肪量与肥胖相关(FTO)基因rs9939609和rs1421085的rs17782313和rs12970134的黑素皮质素-4受体(MC4R)基因影响肥胖。在本研究中,我们旨在确定rs9939609、rs1421085、rs17782313和rs12970134多态性与肥胖儿童体重指数(BMI)、葡萄糖、胰岛素、胰岛素抵抗稳态模型评估(HOMA-IR)和脂质值的关系。我们纳入了100名新诊断的肥胖儿童和100名健康儿童。肥胖组rs1421085 (CC/CT) (p = 0.019)和rs9939609 (AA/AT) (p = 0.002)多态性较高。此外,我们发现rs1421085 (CC/CT)和rs9939609 (AA/AT)多态性分别与高密度脂蛋白胆固醇(p = 0.011和p = 0.003)和甘油三酯(p = 0.01和p = 0.004)水平相关。此外,肥胖儿童中与hdl -胆固醇和甘油三酯水平相关的FTO基因rs9939609和rs1421085变异;然而,需要更大样本量的最新研究来确定遗传变异和儿童肥胖风险因素之间的密切联系。
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引用次数: 6
期刊
Journal of pediatric genetics
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