{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:05:38Z","timestamp":1792037138362,"version":"4.4.0"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:p>\n                    Bardet\u2013Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (\n                    <jats:italic toggle=\"yes\">BBS1\u201319<\/jats:italic>\n                    ) have been identified, of which mutations in\n                    <jats:italic toggle=\"yes\">BBS1<\/jats:italic>\n                    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\u2013Biedl syndrome\u2013related renal disease attending the United Kingdom national Bardet\u2013Biedl 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\u20135 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\n                    <jats:italic toggle=\"yes\">BBS10<\/jats:italic>\n                    , mutations in\n                    <jats:italic toggle=\"yes\">BBS1<\/jats:italic>\n                    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\u20135 CKD. This study describes the largest reported cohort of patients with renal disease in Bardet\u2013Biedl syndrome and identifies risk factors to be considered in genetic counseling.\n                  <\/jats:p>","DOI":"10.1681\/asn.2015091029","type":"journal-article","created":{"date-parts":[[2016,9,22]],"date-time":"2016-09-22T21:49:04Z","timestamp":1474580944000},"page":"963-970","source":"Crossref","is-referenced-by-count":104,"title":["Risk Factors for Severe Renal Disease in Bardet\u2013Biedl Syndrome"],"prefix":"10.1681","volume":"28","author":[{"given":"Elizabeth","family":"Forsythe","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health,"},{"name":"National Bardet\u2013Biedl Syndrome Service, Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Sparks","sequence":"additional","affiliation":[{"name":"National Bardet\u2013Biedl Syndrome Service, Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunayna","family":"Best","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Borrows","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Queen Elizabeth II Hospital, Birmingham, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bethan","family":"Hoskins","sequence":"additional","affiliation":[{"name":"National Bardet\u2013Biedl Syndrome Service, Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ataf","family":"Sabir","sequence":"additional","affiliation":[{"name":"Nephrology Unit and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Barrett","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Birmingham Children\u2019s Hospital, Birmingham, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Williams","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Birmingham Women\u2019s Hospital, Birmingham, United Kingdom; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shehla","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Goldsmith","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Guy\u2019s Hospital, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David V.","family":"Milford","sequence":"additional","affiliation":[{"name":"Nephrology Unit and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"Bockenhauer","sequence":"additional","affiliation":[{"name":"University College Hospital Center for Nephrology, Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Foggensteiner","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Queen Elizabeth II Hospital, Birmingham, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L.","family":"Beales","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health,"},{"name":"National Bardet\u2013Biedl Syndrome Service, Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2016,9,22]]},"reference":[{"key":"B1-20231016","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"B2-20231016","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome.","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"B3-20231016","doi-asserted-by":"crossref","first-page":"22","DOI":"10.2215\/CJN.03320410","article-title":"Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.","volume":"6","author":"Imhoff","year":"2011","journal-title":"Clin J Am Soc Nephrol"},{"key":"B4-20231016","first-page":"199","article-title":"Renal abnormalities in the Bardet-Biedl syndrome.","volume":"3","author":"Tieder","year":"1982","journal-title":"Int J Pediatr Nephrol"},{"key":"B5-20231016","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/S0272-6386(96)90513-2","article-title":"The importance of renal impairment in the natural history of Bardet-Biedl syndrome.","volume":"27","author":"O\u2019Dea","year":"1996","journal-title":"Am J Kidney Dis"},{"key":"B6-20231016","first-page":"175","article-title":"Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. 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