title: Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome.
abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
authors.forename: K K
authors.initials: KK
authors.lastname: Singh
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
authors.forename: R
authors.initials: R
authors.lastname: Kumar
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
authors.forename: J
authors.initials: J
authors.lastname: Prakash
authors.affiliation: Department of Nephrology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
authors.forename: A
authors.initials: A
authors.lastname: Krishna
keywords: Bardet-Biedl syndrome; minimal change nephrotic syndrome; renal anomalies