%0 Journal Article
%T Abnormal Cystatin C Levels in Two Patients with Bardet-Biedl Syndrome
%A Makito Hirano
%A Mitsuru Ohishi
%A Toshihide Yamashita
%A Yasushi Ikuno
%A Hiromi Iwahashi
%A Toshiyuki Mano
%A Ryu Ishihara
%A Ichiro Tanaka
%A Keiko Yanagihara
%A Chiharu Isono
%A Hikaru Sakamoto
%A Yusaku Nakamura and Susumu Kusunoki
%J Clinical Medicine Insights: Case Reports
%D 2012
%I 
%R 10.4137/CCRep.S6622
%X 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.
%U http://www.la-press.com/abnormal-cystatin-c-levels-in-two-patients-with-bardet-biedl-syndrome-article-a2524