良性家族性血尿研究进展  

Research progress of benign familial hematuria

作　　者：余自华[1] 李政[1] 

机构地区：[1]福州总医院(福建医科大学福总临床医学院)儿科,350025

出　　处：《中华实用儿科临床杂志》2017年第5期321-323,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：良性家族性血尿又称薄基底膜肾病，由COL4A3或COL4A4基因单杂合突变所致。在儿童期，良性家族性血尿患者预后良好，仅表现为血尿，不伴蛋白尿，肾功能正常；在成年期，部分良性家族性血尿患者可出现蛋白尿、高血压、慢性肾衰竭、终末期肾脏病，表现为＂非良性＂预后。对于良性家族性血尿患者需长期随访，每1～2年评估1次是否存在高血压、蛋白尿和肾功能损害，并视病情应用血管紧张素转换酶抑制剂，以延缓肾衰竭的发生。Benign familial hematuria, also called thin basement membrane nephropathy, is caused by a heterozygous mutation in the COL4A3 or COL4A4 gene. The prognosis of the patients with benign familial hematuria, who present isolated hematuria without associated with proteinuria and normal renal function, is good in childhood. However, the prognosis of part of the patients with benign familial hematuria, who appear proteinuria, hypertension, chronic renal failure and end - stage kidney disease, is poor in adulthood. Therefore, the patients with benign familial hematuria should be carried on the long - term follow - up, and may be reviewed every 1 - 2 years for hypertension, proteinuria, and renal impairment. Treatment for benign familial hematuria should include an angiotensin converting enzyme inhibitor to delay the onset of renal failure.

关 键 词：良性家族性血尿 薄基底膜肾病 COL4A3基因 COL4A4基因 

分 类 号：R726.9[医药卫生—儿科]