Resumo

DURAN ALVAREZ, Sandalio et al. Familial nephrotic syndrome. Rev Cubana Pediatr [online]. 2007, vol.79, n.4. ISSN 0034-7531.

Gene mutations that codify podocytary proteins have been identified, and there are evidences that suggest that the primary defect of their idiopathic nephrotic syndrome with minimal injury may be in the podocyte. The kinship degree of 12 patients with nephrotic syndrome (siblings or parents) was analyzed, and the main clinical and histological characteristics were stressed. Among the 334  nephrotyic children studied, we found 12, corresponding to 7 families, with corticosensitive nephrotic syndrome (3.6 %). There was a prevalence of males (ratio 2:1). In 4 families without history of the disease there were 9 children affected, two of them, identical twins. In the other three families, two of the mothers and one father, had suffered from the disease. All the children responded to the treatment with steroids, and in the three patients with similar history, the evolution was similar to that of their parents. The nephrotic syndrome with minimal injury   and good response to steroids observed in the families, may not be a casual event and its clinical appearance may be related to some genetic mutation conditioning it. To clearly define this aspect, further research on this topic is needed.

Palavras-chave : Familial nephrotic syndrome; minimal injury; response to steroids; podocitary disorder; genetic mutation.

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