Open AccessRenal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease
Author(s) -
AK Hooda,
S.C. Karan,
JS Bishnoi,
Ashish Nandwani,
Tapan Sinha
Publication year - 2009
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/0971-4065.57108
Subject(s) - bardet–biedl syndrome , polydactyly , medicine , end stage renal disease , retinitis pigmentosa , ciliopathy , disease , renal replacement therapy , end stage renal failure , pediatrics , rare disease , hemodialysis , ophthalmology , genetics , anatomy , phenotype , retinal , biology , gene
Bardet-Biedl syndrome (BBS) is a rare cause of renal failure requiring renal replacement therapy. It is an autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal involvement. We report the first successful renal transplant in a case of BBS from India.