Bardet Biedl Moon Syndrome: A Rare Case with Multi-organ Manifestations Presenting as Renal Failure
Rohith Srinivas, Gurukanth Rao N, Balachandra G
Journal of Advances in Medicine and Medical Research · pp. 296–300 · Published 2 Jul 2025
10.9734/jammr/2025/v37i65871Abstract
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.
Cited by 0
No indexed citations yet.
Related research
- Overview of Clomiphene Citrate Use in Male Hypogonadism and Infertility — shares topic coverage
- Inhibin B Levels in Relation to Obesity Measures and Lipids in Males with Different Numbers of Metabolic Syndrome Components — shares topic coverage
- Gonadotropin–Testosterone Axis and Semen Response after Correction of Chronic Anaemia in β-Thalassaemia, Sickle Cell Disease, and Iron-Deficiency Anaemia: A Structured Review — shares topic coverage
- Hypogonadism in Males Exposed to Mixed Chemicals in a Mechanic Village in Bodija, Ibadan — shares topic coverage
- Gonadal Hormonal Changes in HIV-Positive Individuals Following Anti –retroviral Theraphy at K.R. Hospital, Mysuru, Karnataka, India — shares topic coverage
Article metrics
Real usage data collected on this platform.
26
Page views
0
PDF downloads
3
Outbound clicks
0
Citations
Views over time
Views by country
Approximate, from request IP at view time — not citizenship or institution. Countries with fewer than 5 views are grouped as "Other".
Traffic sources
Referring site, by host.
Views and downloads exclude known bots/crawlers. Citations combines this platform's own DOI-resolved index with each external source's own reported total — see Cited by above for individually listed citing works. Last refreshed 0 seconds ago.