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G69(P) Paediatric Renal Transplantation with Bardet-Biedl Syndrome (BBS) and Situs Inversus Totalis
  1. JH Frost1,
  2. A Bagul2,
  3. IH Mohamed2,
  4. MG Mould3,
  5. HK Jahn4,
  6. G Koffman2
  1. 1Oxford University Hospitals NHS Trust, Oxford, UK
  2. 2Guys and St Thomas NHS Foundation Trust, London, UK
  3. 3Royal North Shore Hospital, Sydney, Australia
  4. 4Leicester Royal Infirmary, Leicester, UK

Abstract

Introduction Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterised by a genetic dysfunction that causes cystic malformation of the kidneys alongside features such as postaxial polydactyly, central obesity and a spectrum of learning difficulties. A rare cause of renal failure in children that ultimately requires transplantation at a very young age. We report the first case of successful renal transplantation in a 3 and a half year old child with both BBS and situs inversus totalis .

Patient and Methods The patient had commenced peritoneal dialysis 14 months prior to transplant due to end-stage renal failure. Following transplant workup her father was deemed a suitable donor and a right sided hand assisted laparoscopic donor nephrectomy was performed. The recipient then underwent the transplant with a midline incision to allow access to the aorta and inferior vena cava to which the anastomoses were made. Anatomical reversal of the usual techniques used in paediatric transplantation were needed due to situs inversus. The kidney was then placed in the left iliac fossa. Native kidneys not removed and the abdomen was closed with peritoneal dialysis catheter removed at time of transplant.

Results The patient recovered in the paediatric intensive care unit as per standard transplantation at the unit. Ultrasound imaging was performed immediately post operatively and showed good global perfusion of the kidney with no hydronephrosis or perinephric collection. The patient developed immediate graft function and was discharged with standardised outpatient follow up.

Discussion Six cases of BBS and renal transplantation have been reported in literature and this is the first case report of a successful renal transplantation in a child with both BBS and situs inversus totalis. We therefore conclude that such anatomical malformations should not be considered a contra-indication for renal transplantation in children.

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