Alport Syndrome - A rare presentation

• Autor(a) principal: Neves,Catarina
• Data de Publicação: 2017
• Outros Autores: Cordinhã,Ana Carolina, Ferreira,Carmen, Sousa,Vítor, Gomes,Clara, Correia,António Jorge
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692017000400009
• topic: Acute renal failure; Alport syndrome; Crescentic glomerulonephritis; Haematuria; Immunosuppression; Proteinuria

Introduction: Alport syndrome is a glomerular genetic disease progressing to chronic renal failure associated with deafness and ocular changes. Clinical presentation is usually in the first decade of life with microscopic haematuria and/or persistent proteinuria without hypertension or renal dysfunction. Case Report: Male, 4.5 years old, with an acute nephritic syndrome characterized by macroscopic haematuria, oedema, non-oliguric acute renal failure (maximal urea and creatinine of 25mmol/L and 150μmol/L, respectively), anaemia and proteinuria. Blood pressure normal. Normal immunoglobulins and complement fractions; anti-neutrophil cytoplasmic antibody, anti-nuclear antibody and anti-basal membrane antibody negative. History of recurrent episodes of macroscopic haematuria since the age of eighteen months associated with respiratory infections. No family history of renal disease or deafness. Renal biopsy showed proliferative glomerulonephritis with extracapillary crescentic activity, complete fragmentation of glomerular basement membranes and negative immunofluorescence. Pulse methylprednisolone was given followed by oral prednisolone and cyclophosphamide. Renal function recovered, microscopic haematuria persisted. At age 5, there was reappearance of proteinuria, worsening progressively and two years later he started treatment with enalapril. At age 11, a second renal biopsy revealed mesangial proliferative glomerulonephritis, small foci of glomerular sclerosis and few deposits of IgM on immunofluorescence. He started oral corticosteroids with partial response. Nine months later, bilateral sensorineural deafness was detected. At age 16, he maintains normal renal function, microscopic haematuria with manifest proteinuria. A mutation in homozygosity in the COL4A3 gene, compatible with autosomal recessive Alport syndrome, was identified. Conclusions: This case draws attention to an uncommon early course and clinical/pathological findings of a patient later diagnosed with Alport syndrome, with an initial good response to corticosteroids and cyclophosphamide. The case also illustrates the importance of kidney biopsy, including electron microscopy, in the diagnostic, classification and therapy in kidney diseases with unusual clinical course