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一名糖尿病患者出现巴特综合征样表型:病例报告

Bartter syndrome-like phenotype in a patient with diabetes: a case report.

作者信息

Dalugama Chamara, Pathirage Manoji, Kularatne S A M

机构信息

Department of Medicine, University of Peradeniya, Peradeniya, Sri Lanka.

出版信息

J Med Case Rep. 2018 Aug 17;12(1):222. doi: 10.1186/s13256-018-1752-6.

Abstract

BACKGROUND

Bartter's syndrome is a rare genetic tubulopathy affecting the loop of Henle leading to salt wasting. It is commonly seen in utero or in early neonatal period. Rare cases of acquired Bartter's syndrome are reported in association with infections like tuberculosis, granulomatous conditions like sarcoidosis, autoimmune diseases, and drugs. The mainstay of management includes potassium, calcium, and magnesium supplementation.

CASE PRESENTATION

We report the case of a 62-year-old Sri Lankan Sinhalese man with diabetes and hypertension presenting with generalized weakness with clinical evidence of proximal myopathy. He was severely hypokalemic with high urinary potassium excretion and hypochloremic metabolic alkalosis. He poorly responded to intravenously administered potassium supplements. A diagnosis of idiopathic Bartter-like phenotype was made. He responded well to spironolactone and indomethacin.

CONCLUSIONS

Patients presenting with body weakness need serum potassium estimation. Acquired Bartter's syndrome although rare, should be ruled out in those with hypokalemia and metabolic alkalosis with increased urinary potassium loss with poor response to potassium replacement.

摘要

背景

巴特综合征是一种罕见的遗传性肾小管病,影响亨利氏袢,导致失盐。常见于子宫内或新生儿早期。有少数获得性巴特综合征的病例报道与结核病等感染、结节病等肉芽肿性疾病、自身免疫性疾病及药物有关。治疗的主要方法包括补充钾、钙和镁。

病例介绍

我们报告一例62岁的斯里兰卡僧伽罗族男性病例,该患者患有糖尿病和高血压,表现为全身无力,并伴有近端肌病的临床证据。他严重低钾血症,尿钾排泄量高,伴有低氯性代谢性碱中毒。他对静脉补充钾的反应不佳。诊断为特发性巴特样表型。他对螺内酯和吲哚美辛反应良好。

结论

出现身体无力的患者需要测定血清钾。获得性巴特综合征虽然罕见,但在低钾血症、代谢性碱中毒、尿钾丢失增加且补钾反应不佳的患者中应排除该诊断。

相似文献

6
Bartter's syndrome and diabetes mellitus.巴特综合征与糖尿病
J Intern Med. 1990 Nov;228(5):525-31. doi: 10.1111/j.1365-2796.1990.tb00273.x.

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Acquired Bartter-Like Phenotype.获得性巴特综合征样表型。
J Assoc Physicians India. 2015 Sep;63(9):78-9.
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Bartter's syndrome with type 2 diabetes mellitus.伴有2型糖尿病的巴特综合征
J Chin Med Assoc. 2009 Feb;72(2):88-90. doi: 10.1016/S1726-4901(09)70029-2.
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A syndrome resembling Bartter's syndrome in sarcoidosis.结节病中一种类似巴特综合征的综合征。
Nephrol Dial Transplant. 2009 Feb;24(2):667-9. doi: 10.1093/ndt/gfn600. Epub 2008 Nov 5.

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