Renal abnormalities in the Bardet-Biedl syndrome.
Four cases of BARDET-Biedl syndrome (BBS) are described which all suffer from renal abnormalities. Polyuria or polydipsia with impairment of renal concentration capacity were the earliest signs of renal dysfunction. Renal insufficiency developed in 3 cases and hypertension in two. Urographic abnormalities were demonstrated in all patients. The most remarkable features were cystic spaces communicating with the calices and lobulation of kidney. Caliceal clubbing and caliectasis surrounded by narrowed, unscarred parenchyma were frequent findings. Previous investigators reported various renal histological pictures in BBS. We found tubulo- interstitial lesions in all cases. Features of dysplasia and cystic formations were less frequent. Mesangial proliferation was not noted. Ultra-structural changes in the glomerular basement membrane were not observed in this study. Thirty-one of 32 recently reported cases of BBS included renal lesions which are the major cause of death. It is therefore suggested that renal abnormalities are accepted as the cardinal feature of this syndrome.
D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D007671:Kidney Concentrating Ability; D007674:Kidney Diseases / Q000235:genetics* / Q000503:physiopathology; D007849:Laurence-Moon Syndrome / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008854:Microscopy, Electron