巴特综合征 I 型。一名多胎妊娠孕妇的临床病例

H.N. Abbasova
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摘要

巴特综合征(Bartter Syndrome)是一种遗传性肾小管疾病,其特征是由于肾小管亨勒环升支对盐的重吸收功能受损而导致的盐丢失、低钾血症和代谢性酸中毒。目前,该病已知有五种类型。第 3 型(典型型)的临床表现出现在儿童期和晚期,而第 1、2、4、5 型(产前型)的特点是产前出现严重的多胎畸形和产前胎儿死亡。本文讲述的是一名孕妇怀有患有产前巴特综合征 I 型的胎儿。
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BARTTER SYNDROME TYPE I. CLINICAL CASE OF A PREGNANT WOMAN WITH POLYHYDRAMNIOS
Bartter syndrome is an inherited renal tubular disorder characterized by salt wasting, hypokalemia and metabolic acidosis due to impaired salt reabsorption in the ascending limb of the loop of Henle in the renal nephrons. Currently, five types of the disease are known. While the clinical signs of type 3 (classical type) appear in childhood and later ages, types 1, 2, 4, 5 (antenatal type) are characterized by severe polyhydramnios in the antenatal period and antenatal fetal death. This article is about a pregnant woman carrying a fetus with antenatal Bartter syndrome type I.
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