低镁血症
肾钙质沉着症
高钙尿症
医学
低钙尿
甲状旁腺机能减退
肾小管病变
内科学
缺镁(植物)
低钾血症
内分泌学
胃肠病学
肾脏疾病
儿科
外科
肾
钙
镁
材料科学
冶金
出处
期刊:PubMed
日期:2008-03-01
卷期号:29 (3): 447-51
被引量:5
摘要
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium wasting, eventually, progressing to renal failure. It has been recently attributed to a mutation in the Claudin 16 (CLDN 16) gene of the Paracellin-1 (PCLN-1) tight junction protein. Herein, we report 2 sisters with FHHNC. Both sisters presented at an early stage with hypomagnesemia and hypocalcemia. The first patient was initially mislabeled and treated as a case of hypoparathyroidism, while the second patient was diagnosed retrospectively after the diagnosis of her sister. The 2 patients developed end stage renal disease.
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