远端肾小管酸中毒与椭圆形红细胞增多症：一例报告

Distal renal tubular acidosis and ovalocytosis: a case report.

作者信息

Jamard B, Allard J, Caron P, Corberand J X, Blanchard A, Vargas-Poussou R, El Mahou S, Constantin A, Cantagrel A, Mazières B, Laroche M

机构信息

Department of Rheumatology, University Hospital of Rangueil, Toulouse, France.

出版信息

Osteoporos Int. 2008 Jan;19(1):119-22. doi: 10.1007/s00198-007-0419-8. Epub 2007 Aug 10.

DOI:10.1007/s00198-007-0419-8

PMID:17690931

Abstract

A 23-year-old man presented with osteoporosis, revealed by femoral fractures, and a history of nephrolithiasis, short stature, metabolic acidosis, hypokalemia and ovalocytosis, a red blood cell abnormality common in malaria endemic regions. Biological investigations led to the diagnosis of type 1 distal renal tubular acidosis (dRTA). Ovalocytosis and dRTA may co-exist in the same patient, since both can originate in mutations of the anion-exchanger 1 (AE1) gene, which codes for band 3, the bicarbonate/chloride exchanger, present in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell.

摘要

一名23岁男性因股骨骨折被发现患有骨质疏松症，并有肾结石病史、身材矮小、代谢性酸中毒、低钾血症和椭圆形红细胞增多症（疟疾流行地区常见的一种红细胞异常）。生物学检查确诊为1型远端肾小管酸中毒（dRTA）。椭圆形红细胞增多症和dRTA可能在同一患者中并存，因为两者都可能源于阴离子交换蛋白1（AE1）基因的突变，该基因编码带3蛋白，即存在于红细胞膜和集合管α-闰细胞基底外侧膜上的碳酸氢盐/氯交换蛋白。