Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease

Abstract

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.

Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

“…Gupta et al [3] reported the first case of BBS from India with renal insufficiency (creatinine 3.0 mg/dl) in a 20-year-old female who had bilateral hypoplastic kidneys on ultrasound and also had multiple fractures, possibly related to renal osteodystrophy. Hooda et al [7] reported the first case from India who has undergone successful preemptive living-related renal transplantation with 38 year old mother as the donor in BBS with stage III CKD in a 12-year-old male child presented with obesity, polydactyly, retinitis pigmentosa and hypogonadism. Investigations showed blood urea nitrogen 43 mg/dl, creatinine 4.3 mg/dl with normal echocardiography, Ultrasound showed small kidneys (right 6.3 cm, left 6.7 cm) with loss of cortico-medullary differentiation, mild cortical irregularity diethylene triamine pentaacetic acid (DTPA) scan showed bilateral impaired renal function (GFR right kidney 16.1 ml/min, left kidney 15.8 ml/min, and total GFR 31.9 ml/min).…”

“…Still, it represents a very rare indication for kidney transplantation [7,8,15]. Renal transplantation is a viable option of renal replacement therapy in these patients.…”

Laurence Moon Bardet Biedle Syndrome

“…Along with the characteristic features, the patients with this syndrome at times present with other findings like intellectual impairment, cardiovascular abnormalities, deafness and dental anomalies 7,8 .…”

Bardet Biedl Syndrome

“…Bardet-Biedl syndrome is genetically heterogeneous, with 12 BBS genes (BBS1â€"12) identifi ed to date [3][4][5][6][7][8][9][10] . Although the cellular mechanisms that underlie BBS remain unclear, it is now evident that all of the known BBS proteins are components of the centrosome and/or basal body and have an impact on ciliary transport 8 .…”

“…1 The frequency of the syndrome is estimated to be 1:1,60,000 2 . Less than 15 cases have been reported from India 3 . The incidence is higher in populations with a high level of consanguinity.…”