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遗传性低尿酸血症合并急性肾损伤——一例病例报告及文献复习

Acute kidney injury in hereditary renal hypouricaemia --a case report and review of literature.

作者信息

Sural Saubhik, Chakraborty Sutirtha

出版信息

J Indian Med Assoc. 2013 Aug;111(8):556-7.

PMID:24783397
Abstract

A young male patient was admitted to our hospital with history of dysuria, recurrent vomiting, severe muscle pain and weakness which was induced by a session of rigorous exercise for the first time in the local gymnasium. He was subsequently diagnosed with exercise-induced acute kidney injury and rhabdomyolysis and managed accordingly. Later on during follow-up he was found to have extreme hypouricaemia (serum uric acid 0.2 mg/dl) and was subsequently diagnosed with renal hypouricaemia. Biochemical investigations on other family members of the patient revealed hereditary renal hypouricaemia in the family.

摘要

一名年轻男性患者因排尿困难、反复呕吐、严重肌肉疼痛和无力入院,这些症状首次由在当地体育馆进行的一次剧烈运动诱发。随后他被诊断为运动诱发的急性肾损伤和横纹肌溶解症,并接受了相应治疗。后来在随访中发现他患有极度低尿酸血症(血清尿酸0.2mg/dl),随后被诊断为肾性低尿酸血症。对该患者其他家庭成员的生化检查显示该家族存在遗传性肾性低尿酸血症。

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