• Medicine · Jul 2019

    Case Reports

    Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report.

    • Hang Ren, Lin Li, Jiyun Yu, Shan Wu, Shanshan Zhou, Yang Zheng, and Weixia Sun.
    • Department of Cardiology.
    • Medicine (Baltimore). 2019 Jul 1; 98 (28): e16256.

    RationaleFabry's disease is an X-linked inherited syndrome. Herein, we presented an unusual case of Fabry disease coexisting with immunoglobulin A nephropathy (IgAN) presenting with Alport syndrome-like pathological findings.Patient ConcernsWe report a 30-year-old male who presented with proteinuria and elevated serum creatinine and for whom the initial pathologic diagnosis supported Alport syndrome.DiagnosesA diagnosis of Fabry disease with immunoglobulin A nephropathy (IgAN) was finally made after further examination.InterventionsAfter the initial diagnosis the patient was treated with herbal medications and mecobalamin.OutcomesThe patient was discharged 1 week later. He was maintained on these treatments and received regular follow-up in our hospital.Lessons Subsections As Per StyleFD coexisting with IgAN is rare and may have nonspecific clinical presentations. Laboratory examination and genetic diagnosis is needed for confirmation. Timely diagnosis and reproductive intervention is needed for therapy.

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