与视觉缺陷相关的肢端-肾综合征

Acrorenal syndrome associated with visual defect.

作者信息

al Salloum A A, al Rasheed S A, al Husain M A, al Mugeiren M M, al Rikabi A S, al Sohaibani M O

机构信息

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

出版信息

Pediatr Nephrol. 1996 Dec;10(6):759-60. doi: 10.1007/s004670050211.

DOI:10.1007/s004670050211

PMID:8971900

Abstract

The clinical biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and renal failure due to oligomeganephronia and renal hypoplasia are reported. This patient represents another example of acrorenal syndrome. This boy has a severe visual defect due to pigmentory retinopathy, which has not been reported previously.

摘要

报告了一名5岁男孩的临床生化、放射学和组织学数据，该男孩因肾单位稀少和肾发育不全导致严重肢体畸形和肾衰竭。该患者是肢端-肾脏综合征的又一病例。这名男孩因色素性视网膜病变存在严重视力缺陷，此前未见相关报道。