RESUMO
Xanthinuria is a rare genetic metabolic disorder, the biochemical mechanism of xanthinuria is the disturbance of purine to uric acid metabolism due to the deficiency of xanthine dehydrogenase/xanthine oxidase (XDH/XO) and aldehyde oxidase 1 (AOX1). Xanthinuria has large clinical variability and only about half of all patients have urolithiasis. In this article, we present one xanthinuria case from an unrelated family, which diagnosed by clinical, biochemical and finally confirmed by molecular genetics. One mutation in XDH gene c.2737C > T (p.R913W) and another mutation in SEPT9 gene (c.655C > T (p.R219W)) were identified. To our knowledge, this is the first time that these novel mutations reported in the xanthinuria patients.
Assuntos
Aldeído Oxidase , Xantina Desidrogenase , Aldeído Oxidase/genética , China , Humanos , Mutação , Xantina , Xantina Desidrogenase/genética , Xantina OxidaseRESUMO
OBJECTIVE: To explore the correlation between obstructive sleep apnea syndrome (OSAS) and cerebrovascular disease (CVD). METHODS: A cohort of 1868 people was screened for OSAS, and followed from November 1989 to November 2009. Annual medical examinations including blood pressure, blood fat, serum glucose, electrocardiogram and chest x-ray were performed. Computer tomography was carried out when CVD, the endpoint of the study, was manifested. RESULTS: Among the 1868 elderly people, 598 (32.0%) were confirmed to have OSAS, including 496 (82.9%) males and 102 (17.1%) females. Compared with the non-OSAS group, patients with OSAS had more symptoms including daytime somnolence, headache, decreased ability of memory, aphronesia and allolalia (P < 0.05). CVD occurred in 276 (46.2%) patients of the OSAS group, but in 150 (11.8%, P < 0.01) subjects of the non-OSAS group. During the 20-year follow-up, 817 people died, 66.2% (396/598) in the OSAS group, but 33.1% (421/1270) in the non-OSAS group (P < 0.01). CONCLUSION: Patients with OSAS are more likely to suffer from CVD. OSAS may be an independent risk factor for CVD.