背景:联合甲基丙二酸血症和高半胱氨酸尿症,cblC型是细胞内钴胺素代谢的先天性错误,也是最常见的一种。发病年龄从产前到成人不等。该疾病的特征是甲基丙二酸(MMA)和高半胱氨酸的升高以及甲硫氨酸的产生减少。目的是在临床症状方面回顾所有迟发性cblC患者的现有科学文献,诊断,和结果。
方法:在PubMed(MEDLINE)中进行了书目数据库搜索,并辅以参考文献列表搜索。我们结合了有关cblC疾病和迟发性的搜索词。两位综述作者进行了研究选择,数据提取和质量评估。
结果:在本系统综述中包含的65篇文章中,我们共收集了199例患者.最常见的临床症状是神经病变/脊髓病,脑病,精神症状,血栓性微血管病,癫痫发作,肾病,轻度至重度肺动脉高压伴心力衰竭和血栓形成现象。在收集的不同研究中使用了不同形式的补充剂,在这些研究中,一些患者依次和/或同时接受了几种治疗。一般结果为:64例患者康复,78例患者好转,4名患者没有好转,或者疾病进展了,12名患者死亡。
结论:关于晚发性cblC疾病的大多数科学文献来自病例报告和病例系列。在大多数情况下,治疗开始导致一些患者的改善甚至康复。缺乏完全恢复强调了在cblC疾病的临床症状不明确时必须提高警惕。
BACKGROUND: Combined methylmalonic acidemia and
homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to
review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome.
METHODS: A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search. We combined search terms regarding cblC disease and late onset. Two
review authors performed the study selection, data extraction and quality assessment.
RESULTS: Of the sixty-five articles included in this systematic
review, we collected a total of 199 patients. The most frequent clinical symptoms were neuropathy/myelopathy, encephalopathy, psychiatric symptoms, thrombotic microangiopathy, seizures, kidney disease, mild to severe pulmonary hypertension with heart failure and thrombotic phenomena. There were different forms of supplementation used in the different studies collected and, within these studies, some patients received several treatments sequentially and/or concomitantly. The general outcome was: 64 patients recovered, 78 patients improved, 4 patients did not improve, or the disease progressed, and 12 patients died.
CONCLUSIONS: Most scientific literature regarding the late onset cblC disease comes from case reports and case series. In most cases treatment initiation led to an improvement and even recovery of some patients. The lack of complete recovery underlines the necessity for increased vigilance in unclear clinical symptoms for cblC disease.