高钙尿症
肾钙质沉着症
医学
多尿
低镁血症
肾小管病变
多饮
错义突变
内科学
内分泌学
胃肠病学
突变
肾脏疾病
泌尿系统
肾
遗传学
糖尿病
基因
镁
材料科学
冶金
生物
作者
Hejia Zhang,Chen Ling,Xiaorong Liu
出处
期刊:Clinical Nephrology
[Dustri-Verlag Dr. Karl Feistle]
日期:2019-06-24
卷期号:92 (2): 95-97
摘要
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy caused by mutations in either the CLDN16 or CLDN19 genes. Two children from a consanguineous family of Chinese presented with enuresis, polyuria, polydipsia, and failure to thrive. Laboratory studies revealed hypomagnesemia, hypercalciuria, sterile leukocyturia, microscopic hematuria, and renal insufficiency. Renal ultrasound showed bilateral medullary nephrocalcinosis and urolithiasis. Gene sequencing showed compound heterozygous, missense mutations c.416C>T (p.Ala139Val) and c.320T>C (p.Leu107Pro) within CLDN16 gene in both patients, and the mutation c.320T>C (p.Leu107Pro) had never been described before. The genetic findings will expand the understanding of FHHNC.
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