Resumen

DURAN ALVAREZ, Sandalio. Is there a corticosensitive nephrotic syndrome with a hereditary minimal lesion?. Rev Cubana Pediatr [online]. 2008, vol.80, n.3. ISSN 0034-7531.

A review of the hereditary characteristics, clinical presentation, and prognosis of the hereditary nephrotic syndromes discovered in the  last years is presented. Most of the studies deal with hereditrary nephrotic  syndromes with varied tissue lesions and a poor response to treatment. The most frequent mutations are produced in NPHS2, NPHS1, WTI, and LAMB2 genes that  produce focal segmental glomerulonephritis, nephrotic syndrome of the  Finish type (microcystic disease), diffuse mesangial sclerosis, and Pierson’s syndrome. Mutations in α-actinin 4 and TRPC6 genes causing nephrotic syndrome with onset focal glomerulonephritis mainly in adults have also been described. The presentation of a family nephrotic syndrome with minimal lesion and good response to  treatment has been documented. It seems to be produced by some gene that may codify an unknown factor, whose locus is 2p12-p13.2. Cases of family nephrotic syndrome that may have dominant or recessive autosomal hereditary patterns with a  similar evolution to that of the progenitors or siblings, and that correspond with the response to the treatment of idiopathic nephrotic syndrome with minimal lesion have been demosstrated. It is necessary to go deep into the study of these patients to determine the  different forms of inheritance, and the gene or genes involved in this nephrotic syndrome.

Palabras clave : Hereditary nephrotic syndrome; genetic mutations; family minimal lesion; treatment.

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