Bardet Biedl Moon Syndrome: A Rare Case with Multi-organ Manifestations Presenting as Renal Failure

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dc.contributor.authorSrinivas, Ren_US
dc.contributor.authorN, GRen_US
dc.contributor.authorG, B.en_US
dc.date.accessioned2025-08-13T11:47:42Z
dc.date.available2025-08-13T11:47:42Z
dc.date.issued2025-06
dc.description.abstractBardet-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.en_US
dc.identifier.affiliationsDepartment of General Medicine, ESIC & PGIMSR, Rajajinagar, Indiaen_US
dc.identifier.affiliationsDepartment of General Medicine, ESIC & PGIMSR, Rajajinagar, Indiaen_US
dc.identifier.affiliationsDepartment of General Medicine, ESIC & PGIMSR, Rajajinagar, India.en_US
dc.identifier.citationSrinivas R, N GR, G B.. Bardet Biedl Moon Syndrome: A Rare Case with Multi-organ Manifestations Presenting as Renal Failure . Journal of Advances in Medicine and Medical Research. 2025 Jun; 37(6): 296-300en_US
dc.identifier.issn2456-8899
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/254362
dc.languageenen_US
dc.publisherMs. M. B. Mondalen_US
dc.relation.issuenumber6en_US
dc.relation.volume37en_US
dc.source.urihttps://doi.org/10.9734/jammr/2025/v37i65871en_US
dc.subjectBardet-biedl syndromeen_US
dc.subjectciliopathyen_US
dc.subjecthypogonadismen_US
dc.subjectpolydactylen_US
dc.subjectretinitis pigmentosaen_US
dc.titleBardet Biedl Moon Syndrome: A Rare Case with Multi-organ Manifestations Presenting as Renal Failureen_US
dc.typeJournal Articleen_US
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