在一个患有肾小管酸中毒和感觉神经性耳聋的家族中出现无虹膜/青光眼和肾母细胞瘤。

Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.

作者信息

de Chadarévian J P, Kaplan P, Vekemans M, Kaplan B S

机构信息

Department of Pathology, Montreal Children's Hospital, Quebec, Canada.

出版信息

Am J Med Genet Suppl. 1987;3:323-8. doi: 10.1002/ajmg.1320280538.

DOI:10.1002/ajmg.1320280538

PMID:2835970

Abstract

A consanguinous couple had a healthy boy and 2 children, a girl and a boy, with distal renal tubular acidosis and sensory nerve deafness. In addition, the girl had congenital glaucoma and malformation of the iris; the boy developed Wilms tumor and insulin-dependent diabetes mellitus. The possible significance of these associations is discussed.

摘要

一对近亲结婚的夫妇育有一个健康的男孩以及两个患有远端肾小管酸中毒和感觉神经性耳聋的孩子，一女一男。此外，女孩患有先天性青光眼和虹膜畸形；男孩患了肾母细胞瘤和胰岛素依赖型糖尿病。本文讨论了这些关联可能具有的意义。