Renal vascular abnormalities in Bardet-Biedl syndrome
| Autor: | Saruhan Cekirge, U. Saatci, E. Baskın, Ferhun Balkanci, Cumhur Sener |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Nephrology
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Eye disease Kidney Bardet–Biedl syndrome Internal medicine medicine Humans Bardet-Biedl Syndrome Polydactyly business.industry Angiography Infant Dysostosis medicine.disease Aneurysm Surgery medicine.anatomical_structure Hypertension Pediatrics Perinatology and Child Health Cardiology Female business Retinopathy Kidney disease |
| Zdroj: | Pediatric Nephrology. 13:787-789 |
| ISSN: | 1432-198X 0931-041X |
| DOI: | 10.1007/s004670050701 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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