ギテルマン症候群
ギテルマン症候群（gitelman syndrome）とは、低カリウム血症＆低マグネシウム血症を引き起こす先天性尿細管機能障害[2] 。
| Gitelman syndrome | |
|---|---|
| 別称 | Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria |
 | |
| 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 syndrome. | |
| 原因 | Mutations in SLC12A3, CLCKNB, MT-TI, MT-TF |
Anatomy of a Nephron; functional unit of the kidney[1]
概要
似たようなものにバーター症候群 (Bartter syndrome）がある。
バーター症候群は低マグネシウム血症＆低カルシウム血症を引き起こす先天性尿細管機能障害。
低マグネシウム血症の症状は、眠気、脱力、吐き気、嘔吐、人格の変化をもたらす病気なので、そういった症状が現れることがあります。
脚注
出典
- Fischer, Artwork by Holly (2013-01-31), English: This is an image of a kidney nephron and its structure. 2020年4月1日閲覧。
- https://jsn.or.jp/journal/document/57_4/743-750.pdf
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