title: Abnormal cystatin C levels in two patients with bardet-biedl syndrome.
abstract: 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 ∼20% 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.
authors.affiliation: Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine.
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Ohishi
authors.forename: Toshihide
authors.initials: T
authors.lastname: Yamashita
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ikuno
authors.forename: Hiromi
authors.initials: H
authors.lastname: Iwahashi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Mano
authors.forename: Ryu
authors.initials: R
authors.lastname: Ishihara
authors.forename: Ichiro
authors.initials: I
authors.lastname: Tanaka
authors.forename: Keiko
authors.initials: K
authors.lastname: Yanagihara
authors.forename: Chiharu
authors.initials: C
authors.lastname: Isono
authors.forename: Hikaru
authors.initials: H
authors.lastname: Sakamoto
authors.forename: Yusaku
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Susumu
authors.initials: S
authors.lastname: Kusunoki