家族性低镁血症伴高钙尿症和肾钙质沉着症：三名土耳其兄弟姐妹的病例报告。

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings.

作者信息

Peru Harun, Akin Fatih, Elmas Sefika, Elmaci Ahmet Midhat, Konrad Martin

机构信息

Department of Pediatric Nephrology, Meram Medical Faculty, Selcuk University, 42080 Konya, Turkey.

出版信息

Pediatr Nephrol. 2008 Jun;23(6):1009-12. doi: 10.1007/s00467-008-0758-5.

DOI:10.1007/s00467-008-0758-5

PMID:18253757

Abstract

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.

摘要

家族性低镁血症伴高钙尿症和肾钙质沉着症（FHHNC）是一种常染色体隐性遗传性肾小管疾病，其特征是亨利氏袢升支粗段对镁和钙的肾小管重吸收受损。该疾病由claudin-16基因（CLDN16）突变引起，该基因编码紧密连接蛋白claudin-16。Claudin-16属于claudin家族，调节镁和钙的细胞旁运输。在此，我们报告了三名患有FHHNC典型临床特征并伴有纯合突变Leu151Phe的土耳其同胞。