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.
基金：
Capital Health Research and Development of Special Grant [2016-2-2094]; Research on the Application of Capital Clinical Characteristics Program of Beijing Municipal Science and Technology Commission [Z161100000516106]
第一作者机构：[1]Capital Med Univ, Beijing Childrens Hosp, Dept Nephrol, Natl Ctr Childrens Hlth, Beijing, Peoples R China
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Childrens Hosp, Dept Nephrol, Natl Ctr Childrens Hlth, Beijing, Peoples R China[*1]Beijing Childrens Hosp, Dept Nephrol, Beijing West Dist Nan Li Shi Lu 56th, Beijing 100045, Peoples R China.
推荐引用方式(GB/T 7714)：
Zhang Hejia,Ling Chen,Liu Xiaorong.A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis[J].CLINICAL NEPHROLOGY.2019,92(2):95-97.doi:10.5414/CN109637.
APA：
Zhang, Hejia,Ling, Chen&Liu, Xiaorong.(2019).A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.CLINICAL NEPHROLOGY,92,(2)
MLA：
Zhang, Hejia,et al."A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis".CLINICAL NEPHROLOGY 92..2(2019):95-97
