Genetics of Diabetes Insipidus

被引：24

作者：

Schernthaner-Reiter, Marie Helene ^{[1
,2
]}

Stratakis, Constantine A. ^{[2
]}

Luger, Anton ^{[1
]}

机构：

[1] Med Univ Vienna, Dept Internal Med 3, Clin Div Endocrinol & Metab, Waehringer Guertel 18-20, A-1090 Vienna, Austria

[2] Eunice Kennedy Shriyer Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, NIH, 31 Ctr Dr, Bethesda, MD 20892 USA

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2017年 / 46卷 / 02期

关键词：

Familial neurohypophyseal diabetes insipidus; Familial nephrogenic diabetes insipidus; Arginine vasopressin; Arginine vasopressin receptor type 2; Aquaporin; 2; Wolfram syndrome; VASOPRESSIN-NEUROPHYSIN-II; AQUAPORIN-2; WATER-CHANNEL; WILD-TYPE AQUAPORIN-2; SINGLE-BASE SUBSTITUTION; SKEWED X-INACTIVATION; SPLICE-SITE MUTATION; AVP-NPII GENE; ARGININE-VASOPRESSIN; MISSENSE MUTATION; V2; RECEPTOR;

D O I：

10.1016/j.ecl.2017.01.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy.

引用

页码：305 / +

页数：31

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