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J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

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Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health,
National Bardet-Biedl Syndrome Service, Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.
Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health.
Nephrology Unit, Queen Elizabeth II Hospital, Birmingham, United Kingdom.
Nephrology Unit and.
Department of Endocrinology, Birmingham Children's Hospital, Birmingham, United Kingdom.
Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom; and.
Clinical Genetics Unit and.
Nephrology Unit, Guy's Hospital, London, United Kingdom.
University College Hospital Center for Nephrology, Great Ormond Street Hospital, London, United Kingdom.


Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (BBS1-19) have been identified, of which mutations in BBS1 are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidity and mortality through the development of CKD. We studied the prevalence and severity of CKD in 350 patients with Bardet-Biedl syndrome-related renal disease attending the United Kingdom national Bardet-Biedl syndrome clinics to further elucidate the phenotype and identify risk indicators of CKD. Overall, 31% of children and 42% of adults had CKD; 6% of children and 8% of adults had stage 4-5 CKD. In children, renal disease was often detected within the first year of life. Analysis of the most commonly mutated disease-associated genes revealed that, compared with two truncating mutations, two missense mutations associated with less severe CKD in adults. Moreover, compared with mutations in BBS10, mutations in BBS1 associated with less severe CKD or lack of CKD in adults. Finally, 51% of patients with available ultrasounds had structural renal abnormalities, and 35% of adults were hypertensive. The presence of structural abnormalities or antihypertensive medication also correlated statistically with stage 3b-5 CKD. This study describes the largest reported cohort of patients with renal disease in Bardet-Biedl syndrome and identifies risk factors to be considered in genetic counseling.


ESRD; genetic renal disease; human genetics; risk factors

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