吉特曼氏綜合症

吉特曼氏綜合症
(Gitelman syndrome)
吉特曼氏綜合症; (Gitelman syndrome)
类型	renal tubular transport disease[]、inherited renal tubular disease[]、遺傳性疾病、常染色体隐性遗传病[*]、疾病
分类和外部资源
醫學專科	腎臟科
ICD-10	N25.8、E87.6、E83.4
ICD-9-CM	275.49
OMIM	263800
DiseasesDB	31860
eMedicine	238670
Orphanet	358
	[编辑此条目的维基数据]

吉特曼氏綜合症（英語：Gitelman syndrome），又稱吉特曼症候群^[1] ，是一種常染色體隱性腎臟疾病，其特點是低尿鈣（hypocalciuria）、及低鎂（hypomagnesemia）之低鉀代謝性鹼中毒（Metabolic alkalosis）。它是由位在遠曲小管（distal convoluted tubule）的噻嗪類（thiazide）相關鈉氯同向轉運體（sodium-chloride symporter、亦稱為NCC、 NCCT、或TSC）的失活突變（inactivating mutation）所造成的功能喪失。^[2]

吉特曼氏綜合症以前被認為包括在巴特氏症候群裡，直到對這些疾病的不同的基因及分子基礎進行過鑑定。巴特氏症候群也是一種常染色體隱性低鉀代謝性鹼中毒，但它被發現在亨利氏環（loop of Henle）升序肢體（Ascending limb of loop of Henle）裡從一個突變派生到NKCC2。^[3]

病因

吉特曼氏綜合症鏈接到SLC12A3基因"失活的突變"造成編碼的敏感噻嗪類（Thiazide）鈉氯同向轉運體（NCCT）的功能喪失。

描述

吉特曼氏綜合症病患所出現的症狀相同於服用噻嗪類利尿劑的病患所出現的症狀。^[4]

本病的臨床症狀是低氯血性（hypochloremia）代謝性鹼中毒（metabolic alkalosis）、低鉀血症，及低鈣尿症（hypocalciuria）。

命名

它以一位美國醫生希勒爾·J.·吉特曼（Hillel J. Gitelman、1932-2015）而命名。^[5]^[6]^[7]^[8]

參見

協同轉運蛋白（Cotransporter）

註釋

^ 李雅婷、王一帆、林宗憲、黃洽鑽. 吉特曼症候群：三個病例報告與文獻回顧 (PDF). 2006.
^ Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.. Nat. Genet. Jan 1996, 12 (1): 24–30 [2014-12-06]. PMID 8528245. doi:10.1038/ng0196-24. （原始内容存档于2019-06-13）.
^ Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat. Genet. June 1996, 13 (2): 183–8. PMID 8640224. doi:10.1038/ng0696-183.
^ O'Shaughnessy KM, Karet FE. Salt handling and hypertension. J. Clin. Invest. 2004, 113 (8): 1075–81. PMC 385413  . PMID 15085183. doi:10.1172/JCI200421560.
^ synd/2329 - Who Named It?
^ Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Physicians. 1966, 79: 221–35. PMID 5929460.
^ Unwin RJ, Capasso G. Bartter's and Gitelman's syndromes: their relationship to the actions of loop and thiazide diuretics (PDF). CURRENT OPINION IN PHARMACOLOGY. 2006, 6 (2): 208–213 [2014-12-06]. PMID 16490401. doi:10.1016/j.coph.2006.01.002. （原始内容 (PDF)存档于2013-10-23）.
^ 存档副本. [2020-08-07]. （原始内容存档于2017-03-26）.

外部連結

The Bartter Site （页面存档备份，存于互联网档案馆）

[kmu-1] 李雅婷、王一帆、林宗憲、黃洽鑽. 吉特曼症候群：三個病例報告與文獻回顧 (PDF). 2006.

[pmid8528245-2] Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.. Nat. Genet. Jan 1996, 12 (1): 24–30 [2014-12-06]. PMID 8528245. doi:10.1038/ng0196-24. （原始内容存档于2019-06-13）.

[pmid8640224-3] Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat. Genet. June 1996, 13 (2): 183–8. PMID 8640224. doi:10.1038/ng0696-183.

[pmid15085183-4] O'Shaughnessy KM, Karet FE. Salt handling and hypertension. J. Clin. Invest. 2004, 113 (8): 1075–81. PMC 385413  . PMID 15085183. doi:10.1172/JCI200421560.

[5] synd/2329 - Who Named It?

[pmid5929460-6] Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Physicians. 1966, 79: 221–35. PMID 5929460.

[7] Unwin RJ, Capasso G. Bartter's and Gitelman's syndromes: their relationship to the actions of loop and thiazide diuretics (PDF). CURRENT OPINION IN PHARMACOLOGY. 2006, 6 (2): 208–213 [2014-12-06]. PMID 16490401. doi:10.1016/j.coph.2006.01.002. （原始内容 (PDF)存档于2013-10-23）.

[8] 存档副本. [2020-08-07]. （原始内容存档于2017-03-26）.

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