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胱氨酸贮积症表现罕见,类似巴特综合征:两例患者报告并文献复习。

Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature.

机构信息

Dr. Sami Ulus Children Hospital, Pediatric Nephrology Department, Altindag, Ankara, Turkey.

出版信息

Ren Fail. 2010 Jan;32(2):277-80. doi: 10.3109/08860221003592804.

Abstract

We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis. Their proximal tubular functions, ophthalmologic and bone marrow examinations were normal. They were started on therapies with the diagnosis of Bartter syndrome. The first patient developed signs of rickets, and the second patient was lost to follow-up and readmitted with chronic renal failure. On reevaluation cystine crystals were detected in cornea and bone marrow aspirates of both patients. We aimed to remind the rare presentation of cystinosis with metabolic alkalosis mimicking Bartter syndrome by these two cases and review the literature.

摘要

我们在此介绍两例以 Bartter 综合征初诊的胱氨酸病患者。两例均因低钾血症、低氯性碱中毒入院。其近端肾小管功能、眼科和骨髓检查均正常。两例均按 Bartter 综合征进行治疗。第 1 例患者出现佝偻病体征,第 2 例患者失访,后因慢性肾衰竭再次入院。重新评估时,两例患者的角膜和骨髓抽吸物中均发现胱氨酸晶体。我们旨在通过这两例病例提醒人们注意胱氨酸病以代谢性碱中毒为表现、类似于 Bartter 综合征的罕见表现,并复习文献。

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