Bardet Biedl Moon Syndrome: A Rare Case with Multi-organ Manifestations Presenting as Renal Failure
Rohith Srinivas *
Department of General Medicine, ESIC & PGIMSR, Rajajinagar, India.
Gurukanth Rao N
Department of General Medicine, ESIC & PGIMSR, Rajajinagar, India.
Balachandra G
Department of General Medicine, ESIC & PGIMSR, Rajajinagar, India.
*Author to whom correspondence should be addressed.
Abstract
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy. We report a 20-year-old male with end-stage kidney disease (ESKD) requiring hemodialysis, diagnosed with BBS exhibiting all six primary diagnostic features. The patient had childhood-onset hypertension (age 12) and congenital renal anomalies (bilateral hydroureteronephrosis, cortical cysts), culminating in ESKD by age 20. Additional manifestations included polydactyly, retinitis pigmentosa, central obesity, intellectual impairment, and hypogonadism. Management involved hemodialysis, antibiotics for E. coli UTI, and hormonal therapy. This case highlights BBS as a critical cause of early-onset renal failure, underscoring the need for antenatal screening in high-risk families and multidisciplinary management of progressive nephropathy.
Keywords: Bardet-biedl syndrome, ciliopathy, hypogonadism, polydactyl, retinitis pigmentosa