Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Praha, Czech Republic.
J Inherit Metab Dis. 2011 Feb;34(1):33-7. doi: 10.1007/s10545-010-9146-y. Epub 2010 Jun 22.
Several recent studies describing a solely vascular presentation of cystathionine beta-synthase (CBS) deficiency in adulthood prompted us to analyze the frequency of patients manifesting with vascular complications in the Czech Republic. Between 1980 and 2009, a total of 20 Czech patients with CBS deficiency have been diagnosed yielding an incidence of 1:311,000. These patients were divided into three groups based on symptoms leading to diagnosis: those with vascular complications, with connective tissue manifestation and with neurological presentation. A vascular event such as a clinical feature leading to diagnosis of homocystinuria was present in five patients, while two of them had no other symptoms typical for CBS deficiency at the time of diagnosis. All patients with the vascular manifestation were diagnosed only during the past decade. The median age of diagnosis was 29 years in the vascular, 11.5 years in the connective tissue and 4.5 years in the neurological group. The ratio of pyridoxine responsive to nonresponsive patients was higher in the vascular (4 of 5 patients) and connective tissue groups (6 of 7 patients) than in the neurological group (2 of 8 patients). Mutation c.833T>C (p.I278T) was frequent in patients with vascular (6/10 alleles) and connective tissue presentation (8/14 alleles), while it was not present in patients with neurological involvement (0/16 alleles). During the last decade, we have observed patients with homocystinuria diagnosed solely due to vascular events; this milder form of homocystinuria usually manifests at greater ages, has a high ratio of pyridoxine responsiveness/nonresponsiveness, and the mutation c.833T>C (p.I278T) is often present.
近年来，有几项研究描述了成人胱硫醚-β-合酶（CBS）缺乏症仅表现为血管病变，这促使我们分析捷克共和国表现为血管并发症的患者的频率。1980 年至 2009 年间，共诊断出 20 例捷克 CBS 缺乏症患者，发病率为 1:311,000。这些患者根据导致诊断的症状分为三组：有血管并发症的组、有结缔组织表现的组和有神经表现的组。有 5 例患者出现血管事件，如导致诊断为高胱氨酸尿症的临床表现，其中 2 例在诊断时无 CBS 缺乏症的其他典型症状。所有有血管表现的患者均在过去十年内确诊。血管组的诊断中位年龄为 29 岁，结缔组织组为 11.5 岁，神经组为 4.5 岁。血管组（5 例中有 4 例）和结缔组织组（7 例中有 6 例）对吡哆醇有反应的患者比例高于神经组（8 例中有 2 例）。突变 c.833T>C（p.I278T）在有血管（10 个等位基因中有 6 个）和结缔组织表现（14 个等位基因中有 8 个）的患者中很常见，而在有神经受累的患者中不存在（16 个等位基因中无 1 个）。在过去十年中，我们观察到仅因血管事件而诊断出高胱氨酸尿症的患者；这种较温和形式的高胱氨酸尿症通常在更大年龄时出现，有较高的吡哆醇反应/无反应比例，并且经常存在突变 c.833T>C（p.I278T）。
