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吉特曼综合征的临床诊断

[Casual diagnosis of Gitelman's syndrome].

作者信息

Martín-Miguel V, Lafarga-Giribets M A, Garcia-Esteve L, Rodrigo-Claverol M D

机构信息

Medicina de Familia y Comunitaria, ABS Bordeta-Magraners, Lleida, España.

Medicina de Familia y Comunitaria, ABS Bordeta-Magraners, Lleida, España.

出版信息

Semergen. 2014 Oct;40(7):e95-8. doi: 10.1016/j.semerg.2013.03.003. Epub 2014 Jul 10.

Abstract

Gitelman's syndrome is a renal tubule disease of recessive autosomal inheritance in which the fundamental alteration is found in the distal tubule, specifically at the level of the Na/Cl cotransporter, is sensitive to thiazides, and coded in chromosome 16q. It is characterised by a metabolic alkalosis with normal blood pressure, hypokalaemia, as well as hypomagnesaemia and hypocalciuria, which separate it from Bartter's syndrome. Its diagnosis can be delayed up to the adult age, as patients may remain asymptomatic for long periods of time. The treatment consists of oral supplements of potassium and magnesium, and the use of potassium-sparing diuretics and indomethacin has also been described.

摘要

吉特曼综合征是一种常染色体隐性遗传的肾小管疾病,其基本病变发生在远端小管,具体是在钠/氯共转运体水平,对噻嗪类药物敏感,由16号染色体q编码。其特征为代谢性碱中毒伴血压正常、低钾血症、低镁血症和低钙尿症,这使其与巴特综合征相区别。由于患者可能长时间无症状,其诊断可能延迟至成年期。治疗包括口服补充钾和镁,也有使用保钾利尿剂和吲哚美辛的描述。

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