EARLY DIAGNOSIS OF BARDET-BIEDL SYNDROME

被引：7

作者：

FRALICK, RA

LEICHTER, HE

SHETH, KJ

机构：

[1] Department of Pediatrics, Division of Pediatric Nephrology, Medical College of Wisconsin, MFRC, Milwaukee, 53226, WI

来源：

PEDIATRIC NEPHROLOGY | 1990年 / 4卷 / 03期

关键词：

Bardet-Biedl syndrome; Laurence-Moon-Biedl syndrome; Obesity; Renal failure;

D O I：

10.1007/BF00857673

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 3-year-old boy presented with decreased renal function, hypertension, obesity and developmental delay. Evaluation of his kidneys revealed blunting of the calyces and multiple renal cortical cysts. Ophthalmologic evaluation showed no abnormalities on examination but electroretinography showed reduced retinal function suggesting a diffuse retinal disorder. Based on the clinical presentation with the associated abnormalities, the diagnosis of Bardet-Biedl syndrome, a form of the Laurence-Moon-Biedl syndrome was made. This syndrome should be considered and specific diagnostic efforts should be made in pediatric patients who present with renal failure and obesity. © 1990 IPNA.

引用

页码：264 / 265

页数：2

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