title: Renal transplantation in Bardet-Biedl Syndrome.
abstract: Renal anomalies are common in patients with Bardet-Biedl syndrome (BBS), a renal cystic ciliopathy with multi-systemic features. Renal transplantation is indicated in cases of end-stage renal disease (ESRD), but transplant centers may be hesitant to perform the necessary transplant in light of the multitude of metabolic comorbidities these patients often face with the potential to complicate outcomes.
  
  
  
  Data from the Clinical Registry Investigating BBS (CRIBBS) were used to investigate renal transplant outcomes in the largest BBS cohort described to date.
  
  
  
  Of the 206 patients enrolled in the CRIBBS, 21 children (10.2 %; 16 girls, 5 boys; median age 8.4 years) had been diagnosed with ESRD. Renal transplantation was performed in 18 of these individuals between 1982 and 2015, including repeat transplantation in some cases, for a total of 22 kidneys. Overall graft survival was 81.6 % at 1 year post-transplantation, 75.7 % at 5 years, 59 % at 10 years, and 49.2 % at 25 years. Patient survival was 94.4 % at 1 year post-transplantation, 87.2 % at 8 years, and 79.3 % at 25 years.
  
  
  
  At a median follow-up time of 97 months, relatively few complications of renal transplantation were reported in the patients of this study. However, body mass index was significantly elevated in transplanted individuals compared to non-transplanted individuals participating in CRIBBS at the most recent follow-up. Although the frequency of obesity and other manifestations of the metabolic syndrome warrant meticulous management in this high-risk population, favorable long-term outcomes suggest that renal transplantation is a viable option for patients with BBS and ESRD.
authors.affiliation: Department of Pediatrics, Marshfield Clinic, 1000 N Oak Ave, Marshfield, WI, 54449, USA. haws.robert@marshfieldclinic.org.
authors.forename: Robert M
authors.initials: RM
authors.lastname: Haws
authors.affiliation: Department of Pediatrics, Marshfield Clinic, 1000 N Oak Ave, Marshfield, WI, 54449, USA.
authors.forename: Aditya
authors.initials: A
authors.lastname: Joshi
authors.affiliation: Department of Pediatrics, University of Louisville, Louisville, KY, USA.
authors.forename: Siddharth A
authors.initials: SA
authors.lastname: Shah
authors.affiliation: Department of Pediatrics, Mubarak Al-Kabeer Hospital & Hamid Al-Essa Transplant Center, Safat, Kuwait.
authors.forename: Omar
authors.initials: O
authors.lastname: Alkandari
authors.affiliation: Department of Pediatric Nephrology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
authors.forename: Martin A
authors.initials: MA
authors.lastname: Turman
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D020788:Bardet-Biedl Syndrome / Q000453:epidemiology* / Q000378:metabolism / Q000601:surgery*; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D005260:Female; D005500:Follow-Up Studies; D006085:Graft Survival; D006801:Humans; D053208:Kaplan-Meier Estimate; D007676:Kidney Failure, Chronic / Q000150:complications / Q000453:epidemiology* / Q000378:metabolism / Q000601:surgery*; D016030:Kidney Transplantation / Q000009:adverse effects* / Q000379:methods; D008297:Male; D009765:Obesity / Q000453:epidemiology* / Q000378:metabolism; D012042:Registries / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D012307:Risk Factors; D012737:Sex Factors; D016896:Treatment Outcome; D055815:Young Adult
keywords: Bardet–Biedl Syndrome; Ciliopathy; End-stage renal disease; Graft; Renal transplant; Survival