title: Renal vascular abnormalities in Bardet-Biedl syndrome.
abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder. Specific diagnostic criteria for BBS have now been defined. At least four of the five cardinal signs of mental retardation, obesity, hypogenitalism in men, distal limb anomalies, and progressive tapetoretinal degeneration of the retina are required for the diagnosis. Renal involvement has been described as a sixth cardinal feature. Chronic renal failure occurs in 30%-60% of patients. Hypertension has been noted in 50%-66% of cases. Renal abnormalities reflect a defect in maturation of the kidneys. We present a patient with BBS who had bilateral microaneurysms and occlusions in renal arterioles.
authors.affiliation: Department of Pediatric Nephrology, Hacettepe University, Sihhiye, TR-06100, Ankara, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Baskin
authors.forename: F
authors.initials: F
authors.lastname: Balkanci
authors.forename: S
authors.initials: S
authors.lastname: Cekirge
authors.forename: C
authors.initials: C
authors.lastname: Sener
authors.forename: U
authors.initials: U
authors.lastname: Saatçi
mesh_terms: D000783:Aneurysm / Q000473:pathology; D000792:Angiography; D020788:Bardet-Biedl Syndrome / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000098:blood supply* / Q000000981:diagnostic imaging