Immunoglobulin A (IgA) nephropathy is the most common glomerular disease, and itoften manifests as persistent microscopic hematuria or gross hematuria. Fabrydisease and Alport syndrome are hereditary diseases caused by mutation of genes,and these diseases are rare in China. At present, patients can be diagnosed withIgA nephropathy by clinical manifestations and laboratory examinations, butthere is still controversy about the simultaneous diagnosis of Alport syndromeand Fabry disease in patients with IgA nephropathy. The present case was a17-year-old girl with hematuria and proteinuria who underwent a renal biopsy.Light microscopy and immunofluorescence showed that IgA was deposited in themesangium. Under electron microscopy, zebra bodies with a lamellated structurewere detected. A gene test showed a COL4A3 gene mutation. The patient wasadministered prednisone 40 mg once a day and dispersible tablets ofmycophenolate mofetil 0.75 g two times a day. The patient’s condition showed atrend of remission. The findings in our case emphasize the importance of renalbiopsy and gene detection in hereditary kidney disease, especially for Fabrydisease and its rare coexistence with Alport syndrome.
展开▼
