牙釉质发育不全与巴特综合征的关联。

Association of Amelogenesis Imperfecta and Bartter's Syndrome.

作者信息

Kumar A C V, Alekya V, Krishna M S V V, Alekya K, Aruna M, Reddy M H K, Sangeetha B, Ram R, Kumar V S

机构信息

Department of Nephrology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India.

Department of Medicine, Sri Venkateswara Medical College, Tirupati, Andhra Pradesh, India.

出版信息

Indian J Nephrol. 2017 Sep-Oct;27(5):399-401. doi: 10.4103/ijn.IJN_203_16.

DOI:10.4103/ijn.IJN_203_16

PMID:28904439

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5590420/

Abstract

Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.

摘要

巴特综合征是一种常染色体隐性遗传性肾小管疾病，其特征为低钾血症、低氯血症、代谢性碱中毒、高血压正常的高肾素血症。巴特综合征与高钙尿症和肾钙质沉着症有关。牙釉质发育不全（AI）是一组影响牙釉质的遗传性疾病。AI可能是几种综合征的一部分。釉质-肾脏综合征是AI与肾钙质沉着症的关联。我们报告了两名患有牙釉质发育不全和巴特综合征的患者。