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Alport syndrome (AS) is a generalised inherited disease characterised by haematuria, progressive renal failure, sensorineural deafness and ocular abnormalities.1 X-linked AS, resulting from mutations of the type IV collagen α5 (COL4A5) gene encoding the type IV collagen α5 chain, accounts for 85% of AS. To date, nearly 700 COL4A5 mutations have been reported, with about 45% of them being missense mutations. The remainder of the patients with AS have autosomal recessive, or rarely, an autosomal dominant inheritance, both of which result from mutations in the COL4A3 or COL4A4 gene.2 Diagnosis of AS relies on clinical presentation, immunohistochemical analysis of the collagen α (IV) chains in the skin and/or renal biopsy specimen, ultrastructural changes of the glomerular basement membrane (GBM) and genetic molecular analysis.
An 11-year-old white male patient presented with palpebral oedema beginning 2 months before his first visit, with moderate oedema and normotension being observed in the outpatient clinic. Screening laboratory tests showed serum proteins 3 mg/dL, albumin 2.6 mg/dL, proteinuria >6 g/24 h, total cholesterol 450 mg/dL (low density lipoprotein 309 mg/dL), urinary red blood cells (+++), serum creatinine 0.97 mg/dL and creatinine clearance 86 mL/min/1.73 m2. The complement components levels were within the normal range and serological test results were negative (P-antineutrophil cytoplasmic autoantibody (P-ANCA), C-ANCA, antinuclear antibody, anti-DNA and, anti-GBM). After 4 weeks of empirical treatment with prednisone (80 mg/day) and a course of pulses of methylprednisolone (three doses), due to rapidly progressive glomerulonephritis being suspected, the patient was posted for …
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