[Uropathies and nephropathies in the Bardet-Biedl in child]

ABSTRACT

The Bardet-Biedl syndrome is an autosomal recessive disease, characterized by obesity, retinal degeneration, hypegenitalism in men, polydactylism and on often moderate mental retardation. With these cardinal features, others clinical findings [secondary features] including diabetes, congenital heart defects, hypertension or syndactyly can be seen. Renal involvement is almost constant, but varies from a moderate impairment of the tubular functions to chronic renal failure caused by malformative uropathy or glomerulopathy. Report a new cases. We report 6 patients with Bardet-Biedel syndrome who had renal involvement. Three patients had cystic dysplasia, one patient an increased fractional sodium excretion, one other a vesico-ureteral reflux and the last patient developed end-stage renal failure following acute post streptococcal glomerulonephritis. We insist on precocious diagnosis and multidisciplinary treatment of these renal lesions, to avoid or, at least, to slow down the evolution to the terminal renal failure, essential prognosis factor. Renal involvement, is considered as a major criteria predicting high morbidity and mortality during Bardet-Diedl disease