Renal Transplantation in Bardet-Biedl Syndrome

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2016 Jun 2

PMID 27245600

Citations 6

Authors

Robert M Haws

Aditya Joshi

Siddharth A Shah

Omar Alkandari

Martin A Turman

Affiliations

Soon will be listed here.

Abstract

Background: 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.

Methods: Data from the Clinical Registry Investigating BBS (CRIBBS) were used to investigate renal transplant outcomes in the largest BBS cohort described to date.

Results: 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.

Conclusions: 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.

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References

Hill C, Courtney A, Cardwell C, Maxwell A, Lucarelli G, Veroux M . Recipient obesity and outcomes after kidney transplantation: a systematic review and meta-analysis. Nephrol Dial Transplant. 2015; 30(8):1403-11. DOI: 10.1093/ndt/gfv214. View

Arts H, Knoers N . Current insights into renal ciliopathies: what can genetics teach us?. Pediatr Nephrol. 2012; 28(6):863-74. PMC: 3631122. DOI: 10.1007/s00467-012-2259-9. View

Mohsin N, Marhuby H, Maimani Y, Aghanishankar P, Al-Hassani M, Seth M . Development of morbid obesity after transplantation in Laurence Moon Biedle syndrome. Transplant Proc. 2003; 35(7):2619. DOI: 10.1016/j.transproceed.2003.09.064. View

Katsika E, Aslanidis T, Charitidou S . Renal transplantation in a patient with Bardet-Biedl syndrome, situs inversus totalis and bifid epiglottis: Anesthetic management. Hippokratia. 2014; 15(4):376. PMC: 3876861. View

Bartosh S, Leverson G, Robillard D, Sollinger H . Long-term outcomes in pediatric renal transplant recipients who survive into adulthood. Transplantation. 2003; 76(8):1195-200. DOI: 10.1097/01.TP.0000092524.75807.84. View

Bettencourt-Dias M, Hildebrandt F, Pellman D, Woods G, Godinho S . Centrosomes and cilia in human disease. Trends Genet. 2011; 27(8):307-15. PMC: 3144269. DOI: 10.1016/j.tig.2011.05.004. View

Inge T, Courcoulas A, Jenkins T, Michalsky M, Helmrath M, Brandt M . Weight Loss and Health Status 3 Years after Bariatric Surgery in Adolescents. N Engl J Med. 2015; 374(2):113-23. PMC: 4810437. DOI: 10.1056/NEJMoa1506699. View

Pietrzak-Nowacka M, Safranow K, Byra E, Binczak-Kuleta A, Ciechanowicz A, Ciechanowski K . Metabolic syndrome components in patients with autosomal-dominant polycystic kidney disease. Kidney Blood Press Res. 2009; 32(6):405-10. DOI: 10.1159/000260042. View

ODea D, Parfrey P, Harnett J, Hefferton D, Cramer B, Green J . The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis. 1996; 27(6):776-83. DOI: 10.1016/s0272-6386(96)90513-2. View

10.

Weissenbacher A, Jara M, Ulmer H, Biebl M, Bosmuller C, Schneeberger S . Recipient and donor body mass index as important risk factors for delayed kidney graft function. Transplantation. 2012; 93(5):524-9. DOI: 10.1097/TP.0b013e318243c6e4. View

11.

Torricelli F, Watanabe A, Piovesan A, Antonopoulos I, David-Neto E, Nahas W . Urological complications, vesicoureteral reflux, and long-term graft survival rate after pediatric kidney transplantation. Pediatr Transplant. 2015; 19(8):844-8. DOI: 10.1111/petr.12591. View

12.

Levey A, Stevens L, Schmid C, Zhang Y, Castro 3rd A, Feldman H . A new equation to estimate glomerular filtration rate. Ann Intern Med. 2009; 150(9):604-12. PMC: 2763564. DOI: 10.7326/0003-4819-150-9-200905050-00006. View

13.

Bacchetta J, Cochat P, Rognant N, Ranchin B, Hadj-Aissa A, Dubourg L . Which creatinine and cystatin C equations can be reliably used in children?. Clin J Am Soc Nephrol. 2010; 6(3):552-60. PMC: 3082413. DOI: 10.2215/CJN.04180510. View

14.

Beales P, Elcioglu N, Woolf A, Parker D, Flinter F . New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 2000; 36(6):437-46. PMC: 1734378. View

15.

Webster A, Craig J, Simpson J, Jones M, Chapman J . Identifying high risk groups and quantifying absolute risk of cancer after kidney transplantation: a cohort study of 15,183 recipients. Am J Transplant. 2007; 7(9):2140-51. DOI: 10.1111/j.1600-6143.2007.01908.x. View

16.

Ogden C, Kuczmarski R, Flegal K, Mei Z, Guo S, Wei R . Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. Pediatrics. 2002; 109(1):45-60. DOI: 10.1542/peds.109.1.45. View

17.

Jilg C, Drendel V, Bacher J, Pisarski P, Neeff H, Drognitz O . Autosomal dominant polycystic kidney disease: prevalence of renal neoplasias in surgical kidney specimens. Nephron Clin Pract. 2013; 123(1-2):13-21. DOI: 10.1159/000351049. View

18.

Jamal M, Corcelles R, Daigle C, Rogula T, Kroh M, Schauer P . Safety and effectiveness of bariatric surgery in dialysis patients and kidney transplantation candidates. Surg Obes Relat Dis. 2015; 11(2):419-23. DOI: 10.1016/j.soard.2014.09.022. View

19.

Middela S, Polizois K, Bradley A, Rao P . Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature. Cases J. 2009; 2:6771. PMC: 2740104. DOI: 10.4076/1757-1626-2-6771. View

20.

Hamiwka L, Midgley J, Wade A, Martz K, Grisaru S . Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant. 2008; 12(8):878-82. DOI: 10.1111/j.1399-3046.2008.00942.x. View