Renal Manifestation of an Adolescent Boy With Bardet- Biedl Syndrome
Journal of Pediatric Nephrology,
Vol. 12 No. 1 (2024),
10 April 2025
https://doi.org/10.22037/jpn.v12i1.44624
Abstract
Background and Aim: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive multisystemic
genetic disorder that may affect the centrosome and ciliary transport. Retinal
dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system
anomalies characterize the disease. Renal involvement is a major cause of morbidity and
mortality.
Case Presentation: We report the case of a 16-year-old boy with BBS who had a history of
delayed diagnosis and features of glomerulonephritis leading to chronic kidney disease. He
underwent a renal biopsy, which revealed focal segmental glomerulosclerosis (FSGS) from
a histopathological study.
Conclusion: To our knowledge, only a few FSGS cases have been previously reported
in pediatric patients with this syndrome. We wish to alert clinicians to a wide variety of
renal abnormalities that can be observed in patients with this rare disorder and to provide
multidisciplinary management of BBS.
- Bardet-Biedl syndrome
- Chronic kidney disease
- Focal Segmental Glomerulosclerosis
How to Cite
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