凹痕病1型:仍未被认识的肾近端小管病变1例报告

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL
M. Vitkauskaitė, A. Čerkauskaitė, M. Miglinas
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引用次数: 0

摘要

凹痕病是一种罕见的肾小管疾病,几乎只出现在男性。诊断仍然具有挑战性,因此偶尔会误诊登特病。我们报告一个45岁男性登特病并发肾衰竭的病例。从7个月开始,持续出现蛋白尿。24岁时,他接受了肾活检,结果显示局灶节段性肾小球硬化。患者的兄弟自2岁起被发现有蛋白尿。在45岁时,患者被转移到三级护理肾病科,并怀疑登特病。基因检测显示CLCN5突变。我们强调广泛的临床表现在凹痕病和重要的是有一个高的临床怀疑,以获得明确的诊断。此外,还需要进一步研究该疾病的临床病程、预后和有效的治疗方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Dent Disease Type 1: Still an Under-Recognized Renal Proximal Tubulopathy: A Case Report
Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed. We report a case of a 45-year-old man with Dent disease who developed renal failure. Since the age of 7 months, he persistently exhibited proteinuria. At the age of 24 years, he underwent kidney biopsy, which revealed focal segmental glomerulosclerosis. The patient’s brother was found to have proteinuria since he was 2 years old. At the age of 45 years, the patient was transferred to a tertiary care nephrologist, and Dent disease was suspected. Genetic testing revealed a CLCN5 mutation. We highlight the broad spectrum of clinical manifestations in Dent disease and the importance of having a high clinical suspicion to attain a definitive diagnosis. Furthermore, future research regarding the clinical course of the disease, prognosis, and effective treatment options is needed.
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