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单词 Gitelman syndrome
释义

Gitelman syndrome

中文百科

吉特曼氏综合症

吉特曼氏综合症英语:Gitelman syndrome),又称吉特曼症候群 ,是一种常染色体隐性肾脏疾病,其特点是低钙(hypocalciuria)、及低镁(hypomagnesemia)之低钾代谢性碱中毒(Metabolic alkalosis)。它是由位在远曲小管(distal convoluted tubule)的噻嗪类(thiazide)相关钠氯同向转运体(sodium-chloride symporter、亦称为NCC、 NCCT、或TSC)的失活突变(inactivating mutation)所造成的功能丧失。

英语百科

Gitelman syndrome 吉特曼氏综合症

A model of transport mechanisms in the distal convoluted tubule. Sodium-chloride (NaCl) enters the cell via the apical thiazide-sensitive NCC and leaves the cell through the basolateral Cl− channel (ClC-Kb), and the Na+/K+-ATPase. Indicated also are the recently identified magnesium channel TRPM6 in the apical membrane, and a putative Na/Mg exchanger in the basolateral membrane. These transport mechanisms play a role in familial hypokalemia-hypomagnesemia or Gitelman's syndrome.
Gitelman syndrome has an autosomal recessive pattern of inheritance.

Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic alkalosis with hypocalciuria, and hypomagnesemia. It is caused by loss of function mutations of the thiazide sensitive sodium-chloride symporter (also known as NCC, NCCT, or TSC) located in the distal convoluted tubule.

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更新时间:2025/6/21 4:27:00