先天性“失镁性肾病”。两例病例报告。

The congenital "magnesium-losing kidney". Report of two patients.

作者信息

Evans R A, Carter J N, George C R, Walls R S, Newland R C, McDonnell G D, Lawrence J R

出版信息

Q J Med. 1981;50(197):39-52.

Abstract

A 39-year-old man with a lifelong history of tetany and hypocalcaemia was found to have hypomagnesaemia (0.29 mmol/l) due to renal magnesium loss. His asymptomatic 29-year-old brother had a similar disorder. Both were infertile and had severe oligospermia but normal endocrine function. They had medullary nephrocalcinosis and glomerular filtration rate was reduced. Renal biopsy showed patchy interstitial fibrosis and some glomerular sclerosis. Electron microscopy showed thickened basement membranes in damaged glomeruli and in tubules in areas of fibrosis. Tests of renal tubule function were normal. Hypocalcaemia and tetany were corrected by oral magnesium supplements which raised the serum magnesium level to around 0.54 mmol/l.

摘要

一名有手足搐搦和低钙血症终生病史的39岁男性，因肾脏镁丢失被发现有低镁血症（0.29 mmol/L）。他无症状的29岁弟弟有类似疾病。两人均不育且有严重少精子症，但内分泌功能正常。他们有髓质肾钙质沉着症，肾小球滤过率降低。肾活检显示斑片状间质纤维化和一些肾小球硬化。电子显微镜检查显示受损肾小球和纤维化区域肾小管的基底膜增厚。肾小管功能测试正常。口服镁补充剂将血清镁水平提高到约0.54 mmol/L后，低钙血症和手足搐搦得到纠正。