阿根廷十年的糖基化先天性疾病筛查：病例研究与陷阱。
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
机构信息
CONICET - UCC - Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Hospital de Niños de la Sma. Trinidad, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, Córdoba, Argentina.
Unidad de Metabolismo, Hospital de Niños de La Plata, Buenos Aires, Argentina.
出版信息
Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6. Epub 2018 Oct 18.
BACKGROUND
Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement.
METHODS
We studied 554 patients (2007-2017) with a clinical phenotype compatible with a CDG. Screening was performed by serum transferrin isoelectric focusing. The diagnosis was confirmed by genetic testing (Sanger or exome sequencing).
RESULTS
A confirmed abnormal pattern was found in nine patients. Seven patients showed a type 1 pattern: four with PMM2-CDG, two with ALG2-CDG, and one with classical galactosemia. A type 2 pattern was found in two patients: one with a CDG-IIx and one with a transferrin protein variant. Abnormal transferrin pattern were observed in a patient with a myopathy due to a COL6A2 gene variant.
CONCLUSIONS
CDG screening in Argentina from 2007 to 2017 revealed 4 PMM2-CDG patients, 2 ALG2-CDG patients with a novel homozygous gene variant and 1 CDG-IIx.
背景
先天性糖基化障碍（CDG）是由糖蛋白和糖脂的低糖化引起的遗传疾病。大多数 CDG 是多系统疾病，轻度至重度受累。
方法
我们研究了 554 名（2007-2017 年）具有与 CDG 相符的临床表型的患者。通过血清转铁蛋白等电聚焦进行筛查。通过基因检测（Sanger 或外显子组测序）确认诊断。
结果
在 9 名患者中发现了确诊的异常模式。7 名患者显示 1 型模式：4 名 PMM2-CDG、2 名 ALG2-CDG 和 1 名经典半乳糖血症。在 2 名患者中发现了 2 型模式：1 名 CDG-IIx 和 1 名转铁蛋白蛋白变异。在一名因 COL6A2 基因突变引起的肌病患者中观察到异常转铁蛋白模式。
结论
2007 年至 2017 年在阿根廷进行的 CDG 筛查显示 4 名 PMM2-CDG 患者、2 名具有新的纯合基因突变的 ALG2-CDG 患者和 1 名 CDG-IIx 患者。
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