SEVERAL HOMOZYGOUS MUTATIONS IN THE GENE FOR 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-2 IN PATIENTS WITH APPARENT MINERALOCORTICOID EXCESS

被引：138

作者：

WILSON, RC

HARBISON, MD

KROZOWSKI, ZS

FUNDER, JW

SHACKLETON, CHL

HANAUSKEABEL, HM

WEI, JQ

HERTECANT, J

MORAN, A

NEIBERGER, RE

BALFE, JW

FATTAH, A

DANEMAN, D

LICHOLAI, T

NEW, MI

机构：

[1] CORNELL UNIV, MED CTR,NEW YORK HOSP,DEPT PEDIAT, DIV PEDIAT ENDOCRINOL, NEW YORK, NY 10021 USA

[2] BAKER MED RES INST, MELBOURNE, VIC, AUSTRALIA

[3] CHILDRENS HOSP, OAKLAND, CA 94609 USA

[4] TAWAM HOSP, AL AIN MED CTR, MINIST HLTH, AL AIN, U ARAB EMIRATES

[5] UNIV MINNESOTA, SCH MED, MINNEAPOLIS, MN 55455 USA

[6] UNIV FLORIDA, SHANDS TEACHING HOSP, DEPT NEPHROL, GAINESVILLE, FL 32610 USA

[7] HOSP SICK CHILDREN, TORONTO, ON M5G 1X8, CANADA

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1995年 / 80卷 / 11期

关键词：

D O I：

10.1210/jc.80.11.3145

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Four deleterious mutations are described in the gene for HSD11B2, which encodes the type 2 isoenzyme of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD2). In seven families with one or more members affected by apparent mineralocorticoid excess, this disorder is shown to be the result of a deficiency in 11 beta HSD2. Surprisingly, the patients are all homozygous for their mutation. This results from consanguinity in two families and possibly from endogamy or a founder effect in four of the other five families. The absence of compound heterozygotes remains to be investigated.

引用

页码：3145 / 3150

页数：6

共 24 条

[21] SYNDROME OF APPARENT MINERALOCORTICOID EXCESS ASSOCIATED WITH DEFECTS IN THE PERIPHERAL METABOLISM OF CORTISOL [J].