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通过肾脏清除率研究鉴别吉特曼综合征与巴特综合征的可能性:两例报告

Possible discrimination of Gitelman's syndrome from Bartter's syndrome by renal clearance study: report of two cases.

作者信息

Tsukamoto T, Kobayashi T, Kawamoto K, Fukase M, Chihara K

机构信息

Department of Medicine, Kobe University School of Medicine, Japan.

出版信息

Am J Kidney Dis. 1995 Apr;25(4):637-41. doi: 10.1016/0272-6386(95)90137-x.

DOI:10.1016/0272-6386(95)90137-x
PMID:7702064
Abstract

We observed two patients who had hypokalemic metabolic alkalosis as well as hypomagnesemia and hypocalciuria with elevated serum renin levels. In renal clearance studies in our patients using furosemide or thiazide, urine volume and chloride clearance (CCI) were increased after furosemide administration but not after thiazide administration. Furthermore, the distal fractional chloride reabsorption [CH2O/(CH2O + CCI)] was dramatically decreased by furosemide administration in our patients, whereas thiazide had little effect on it, suggesting the presence of a defect in the distal tubule rather than in the thick ascending loop of Henle. These findings are compatible with the concept of Gitelman's syndrome, a variant form of Bartter's syndrome.

摘要

我们观察到两名患者出现低钾血症性代谢性碱中毒,同时伴有低镁血症和低钙尿症,血清肾素水平升高。在我们的患者中使用呋塞米或噻嗪类药物进行肾脏清除率研究时,给予呋塞米后尿量和氯清除率(CCI)增加,但给予噻嗪类药物后未增加。此外,在我们的患者中,给予呋塞米后远端氯分数重吸收[CH2O/(CH2O + CCI)]显著降低,而噻嗪类药物对此影响很小,提示远端小管而非髓袢升支粗段存在缺陷。这些发现与吉特曼综合征(一种巴特综合征的变异形式)的概念相符。

相似文献

1
Possible discrimination of Gitelman's syndrome from Bartter's syndrome by renal clearance study: report of two cases.通过肾脏清除率研究鉴别吉特曼综合征与巴特综合征的可能性:两例报告
Am J Kidney Dis. 1995 Apr;25(4):637-41. doi: 10.1016/0272-6386(95)90137-x.
2
Hypokalemic metabolic alkalosis with hypomagnesuric hypermagnesemia and severe hypocalciuria: a new syndrome?伴有低镁尿性高镁血症和严重低钙尿症的低钾血症性代谢性碱中毒:一种新综合征?
Am J Kidney Dis. 1997 Jan;29(1):106-14. doi: 10.1016/s0272-6386(97)90016-0.
3
[The Gitelman syndrome--a differential diagnosis of Bartter syndrome].[吉特林综合征——巴特综合征的鉴别诊断]
Med Klin (Munich). 1994 Dec 15;89(12):640-4.
4
[A case of Gitelman's syndrome presenting with severe hypocalcaemia and hypokalemic periodic paralysis].1例以严重低钙血症和低钾性周期性麻痹为表现的吉特曼综合征病例
Sichuan Da Xue Xue Bao Yi Xue Ban. 2005 Jul;36(4):583-7.
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Abnormal reabsorption of Na+/CI- by the thiazide-inhibitable transporter of the distal convoluted tubule in Gitelman's syndrome.吉特曼综合征中,远曲小管的噻嗪类可抑制转运体对Na+/CI-的重吸收异常。
Am J Nephrol. 1997;17(2):103-11. doi: 10.1159/000169082.
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Gitelman's syndrome first diagnosed as Bartter's syndrome.吉特曼综合征最初被诊断为巴特综合征。
Intern Med. 2001 Oct;40(10):1011-4. doi: 10.2169/internalmedicine.40.1011.
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[Hypokalemic metabolic alkalosis: apropos of a case of Gitelman's syndrome].[低钾血症性代谢性碱中毒:关于1例吉特曼综合征病例]
Nefrologia. 2004;24 Suppl 3:72-5.
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Analyses of subjects with hypokalemic metabolic alkolosis, Gitelman's and Bartter's syndrome.对低钾血症性代谢性碱中毒、吉特曼综合征和巴特综合征患者的分析。
Ren Fail. 2008;30(7):691-4. doi: 10.1080/08860220802212718.
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Bartter's and Gitelman's syndromes: from gene to clinic.巴特综合征和吉特曼综合征:从基因到临床
Nephron Physiol. 2004;96(3):p65-78. doi: 10.1159/000076752.
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Familial hypokalemia-hypomagnesemia or Gitelman's syndrome: a further case.家族性低钾血症-低镁血症或吉特曼综合征:又一例病例
Nephron. 1992;62(3):340-4. doi: 10.1159/000187070.

引用本文的文献

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Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.中国吉特曼综合征患者中常见的SLC12A3突变:结构与功能紊乱
Endocr Connect. 2022 Jan 27;11(1):e210262. doi: 10.1530/EC-21-0262.
2
Mechanism of Thiazide Diuretic Arterial Pressure Reduction: The Search Continues.噻嗪类利尿剂降低动脉压的机制:探索仍在继续。
Front Pharmacol. 2019 Aug 27;10:815. doi: 10.3389/fphar.2019.00815. eCollection 2019.
3
Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report.
伴有高磷血症的吉特林综合征,单次口服氧化镁有效:一例报告
Medicine (Baltimore). 2019 Jul;98(28):e16408. doi: 10.1097/MD.0000000000016408.
4
A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration.一名日本患者表现出类似吉特曼综合征的表型,对噻嗪类利尿剂不敏感,其CLCNKB基因存在一种新突变。
Meta Gene. 2014 May 4;2:342-8. doi: 10.1016/j.mgene.2014.04.005. eCollection 2014 Dec.
5
Diuretic loading test and use of Bartter's Normogram in diagnosing a case of Gitelman's syndrome: Relook into pathophysiology.利尿负荷试验及使用巴特氏诺模图诊断吉特曼综合征一例:重新审视病理生理学
Indian J Nephrol. 2011 Oct;21(4):289-92. doi: 10.4103/0971-4065.83748.
6
Acquired Gitelman's syndrome: an oxymoron?获得性吉特曼综合征:一个矛盾的说法?
Int Urol Nephrol. 2011 Mar;43(1):233-6. doi: 10.1007/s11255-010-9727-6. Epub 2010 Mar 21.
7
Gitelman's syndrome (familial hypokalemia-hypomagnesemia).吉特曼综合征(家族性低钾血症-低镁血症)
Hippokratia. 2007 Jul;11(3):150-3.
8
Diagnosis of a case of Gitelman's syndrome based on renal clearance studies and gene analysis of a novel mutation of the thiazide-sensitive Na-Cl cotransporter.基于肾脏清除率研究及噻嗪类敏感型钠氯共转运体新突变的基因分析对1例吉特曼综合征病例的诊断
J Endocrinol Invest. 2005 Oct;28(9):822-6. doi: 10.1007/BF03347574.
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A rare case of Gitelman's syndrome presenting with hypocalcemia and osteopenia.一例罕见的吉特曼综合征伴低钙血症和骨质减少。
J Endocrinol Invest. 2005 May;28(5):464-8. doi: 10.1007/BF03347229.
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Absence of small conductance K+ channel (SK) activity in apical membranes of thick ascending limb and cortical collecting duct in ROMK (Bartter's) knockout mice.ROMK(巴特综合征)基因敲除小鼠的髓袢升支粗段和皮质集合管顶端膜中缺乏小电导钾离子通道(SK)活性。
J Biol Chem. 2002 Oct 4;277(40):37881-7. doi: 10.1074/jbc.M206644200. Epub 2002 Jul 18.