NEPHROGENIC DIABETES-INSIPIDUS - CLINICAL SYMPTOMS, PATHOGENESIS, GENETICS AND TREATMENT

被引：36

作者：

KNOERS, N

MONNENS, LAH

机构：

[1] Department of Human Genetics, University of Nijmegen, Nijmegen, 6500

[2] Department of Paediatrics, University of Nijmegen, Nijmegen, 6500

来源：

PEDIATRIC NEPHROLOGY | 1992年 / 6卷 / 05期

关键词：

NEPHROGENIC DIABETES-INSPIDUS; V2-RECEPTOR; X-CHROMOSOMAL LOCALIZATION; AMILORIDE;

D O I：

10.1007/BF00874020

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

This review summarizes various aspects of the inherited kidney disorder nephrogenic diabetes insipidus (NDI). The clinical manifestations of the disease are presented. The important role of the genetic localization of the NDI gene to the X-chromosome long arm, in region Xq28, for carrier detection and early (prenatal) diagnosis of the disorder is emphasized. Following an overview of the cellular physiology involved in the antidiuretic action of vasopressin, possible mechanisms in the pathogenesis of NDI are discussed. We hypothesize that NDI is most probably due to the absence or abnormality of the renal V2 receptor. This assumption is strengthened by recent findings in receptor studies, which indicate a general V2 receptor defect in NDI, and in experiments with somatic cell hybrid cell lines, which are consistent with a co-localization of the genes for NDI and for the V2 receptor in the Xq28 region. Finally, the efficacy of the combination amiloride-hydrochlorothiazide, compared with the indomethacin-hydrochlorothiazide regimen, in the treatment of NDI is presented and the advantages of the former combination are discussed.

引用

页码：476 / 482

页数：7

共 72 条

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