Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review

被引：16

作者：

Gross, Itai ^{[2
]}

Siedner-Weintraub, Yael ^{[2
]}

Simckes, Ari ^{[2
]}

Gillis, David ^{[1
]}

机构：

[1] Hadassah Univ Hosp, Dept Pediat, IL-91120 Jerusalem, Israel

[2] Hadassah Hebrew Univ, Med Ctr, Dept Pediat, Jerusalem, Israel

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2015年 / 28卷 / 7-8期

关键词：

Bartter's syndrome; hyperparathyroidism; HOMEOSTASIS; PHENOTYPE; MUTATIONS;

D O I：

10.1515/jpem-2014-0188

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.

引用

页码：943 / 946

页数：4

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