Author:
Zhang Yong-Zhe,Jian Geng,He Ping,Yu Rui,Tian Mi,Wu Yan,Zhang Bei-Ru
Abstract
Abstract
Background
Wilson disease (WD) is a rare genetic disorder of copper metabolism. Differences in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical features of WD make diagnosis challenging, delaying the best chance for treatment.
Case presentation
We report a case of a 26-year-old man with nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated immunoglobulin A (IgA) nephropathy and tubular injury, which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. Based on results showing abnormal copper metabolism, corneal Kayser–Fleischer rings, and genetic disorders in the ATP7B gene, the patient was finally diagnosed with WD. After treatment with oral penicillamine, zinc sulfate and losartan, the patient showed alleviation of both WD and nephropathy after 3 years of follow-up. He maintained a good quality of daily life.
Conclusion
This case highlights that unexplained neurological and liver symptoms in patients with IgA nephropathy can be clues for WD.
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology,General Medicine
Cited by
4 articles.
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