Open AccessBardet-Biedl syndrome: A rare cause of end stage renal disease
Author(s) -
Hema Radhakrishnan
Publication year - 2015
Publication title -
international journal of applied and basic medical research/international journal of applied and basic medical research
Language(s) - English
Resource type - Journals
eISSN - 2248-9606
pISSN - 2229-516X
DOI - 10.4103/2229-516x.149254
Subject(s) - ciliopathy , bardet–biedl syndrome , polydactyly , cilium , medicine , retinitis pigmentosa , pediatrics , end stage renal failure , presentation (obstetrics) , rare disease , disease , autosomal recessive inheritance , pathology , surgery , biology , genetics , anatomy , ophthalmology , hemodialysis , phenotype , retinal , gene
Bardet-Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure.