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Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-12-09 , DOI: 10.1002/jimd.12338
Viktor Kožich 1 , Jitka Sokolová 1 , Andrew A M Morris 2 , Markéta Pavlíková 3 , Florian Gleich 4 , Stefan Kölker 4 , Jakub Krijt 1 , Carlo Dionisi-Vici 5 , Matthias R Baumgartner 6, 7 , Henk J Blom 8 , Martina Huemer 6, 9 ,
Affiliation  

Cystathionine β‐synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E‐HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non‐responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient‐years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine‐responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long‐term complications.

中文翻译:

E-HOD 注册表中胱硫醚 β-合酶缺乏症 - 第一部分:吡哆醇反应性作为诊断时生化和临床表型的决定因素

胱硫醚 β-合酶 (CBS) 缺乏症的临床范围很广,从儿童早期的神经发育问题、晶状体脱位和马凡氏特征到成人发病的疾病,主要是血栓栓塞并发症。我们分析了来自 E-HOD(高胱氨酸尿症和甲基化缺陷的欧洲网络和登记处)登记处的 328 名 CBS 缺乏症患者在诊断时的临床和实验室数据。我们制定了综合标准将患者分为四组吡哆醇反应性:无反应者 (NR)、部分反应者、完全反应者和极端反应者(分别为 PR、FR 和 ER)。所有组均显示血浆总同型半胱氨酸浓度重叠,而吡哆醇反应性与血浆/血清蛋氨酸浓度呈负相关。与 NR 和 PR 患者相比,FR 和 ER 组的发病和诊断年龄较晚,诊断延迟时间较长。晶状体脱位在除 ER 外的所有组中都很常见,但脱位的年龄随着反应性的增加而增加。发育迟缓在 NR 组中最为常见,而没有 ER 患者有认知障碍。血栓栓塞是 ER 患者最常见的表现特征,而在 NR 组中最不可能出现。这可能是由于就诊时的年龄不同:所有组每 1000 患者年的血栓栓塞事件数量相似。CBS 缺乏症的临床严重程度取决于吡哆醇反应的程度。所以,
更新日期:2020-12-09
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