{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:56:27Z","timestamp":1777694187352,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Case Rep"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-14. In the Western countries, the prevalence of this disease ranges from 1\/13,500 to 1\/160,000, while only a few Japanese patients have been reported in the English-language literature. The incidence of renal dysfunction or anomalies in previous reports varies considerably ranging from \u223c20% to universal occurrence. We here report that two Japanese patients who had BBS with normal BUN and creatinine levels had elevated levels of cystatin C, a sensitive marker of glomerular filtration rate. A urine albumin level increased only in the elder patient. Thus, cystatin C may be useful for detecting renal abnormalities in patients with an apparent normal renal function. Because this disease is diagnosed by accumulation of symptoms, such a sensitive marker might help early diagnosis of BBS.<\/jats:p>","DOI":"10.4137\/ccrep.s6622","type":"journal-article","created":{"date-parts":[[2011,3,10]],"date-time":"2011-03-10T15:32:36Z","timestamp":1299771156000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Abnormal Cystatin C Levels in Two Patients with Bardet-Biedl Syndrome"],"prefix":"10.4137","volume":"4","author":[{"given":"Makito","family":"Hirano","sequence":"first","affiliation":[{"name":"Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuru","family":"Ohishi","sequence":"additional","affiliation":[{"name":"Department of Geriatric Medicine, osaka University."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihide","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience, osaka University."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Ikuno","sequence":"additional","affiliation":[{"name":"Department of ophthalmology, osaka University."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Iwahashi","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine, osaka University."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Mano","sequence":"additional","affiliation":[{"name":"Division of pediatric Neurology, osaka Medical Center and Research Institute for Maternal and Child Health."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryu","family":"Ishihara","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal oncology, osaka Medical Center for Cancer and Cardiovascular Diseases."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of paediatrics, Nara Medical University."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Yanagihara","sequence":"additional","affiliation":[{"name":"Division of pediatric Neurology, osaka Medical Center and Research Institute for Maternal and Child Health."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiharu","family":"Isono","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hikaru","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusaku","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susumu","family":"Kusunoki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kinki University."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,3,10]]},"reference":[{"key":"bibr1-CCRep.S6622","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910123211503"},{"key":"bibr2-CCRep.S6622","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","volume":"36","author":"Beales P.L.","year":"1999","journal-title":"J Med 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