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Abnormal Cystatin C Levels in Two Patients with Bardet-Biedl Syndrome

By Makito Hirano, Mitsuru Ohishi, Toshihide Yamashita, Yasushi Ikuno, Hiromi Iwahashi, Toshiyuki Mano, Ryu Ishihara, Ichiro Tanaka, Keiko Yanagihara, Chiharu Isono, Hikaru Sakamoto, Yusaku Nakamura and Susumu Kusunoki


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

Topics: Case Report
Publisher: Libertas Academica
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Provided by: PubMed Central

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