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

RATIONALE: Fabry'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 CONCERNS: We report a 30-year-old male who presented with proteinuria and elevated serum creatinine and for whom the initial pathologic diagnosis supported Alport syndrome. DIAGNOSES: A diagnosis of Fabry disease with immunoglobulin A nephropathy (IgAN) was finally made after further examination. INTERVENTIONS: After the initial diagnosis the patient was treated with herbal medications and mecobalamin. OUTCOMES: The patient was discharged 1 week later. He was maintained on these treatments and received regular follow-up in our hospital. LESSONS SUBSECTIONS AS PER STYLE: FD 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.