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首页> 外文期刊>Hong Kong Journal of Paediatrics >Screening and Diagnosis of Children with Primary Carnitine Deficiency in Zhejiang Province, China
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Screening and Diagnosis of Children with Primary Carnitine Deficiency in Zhejiang Province, China

机译：浙江省儿童原发性肉碱缺乏症的筛查与诊断

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摘要

Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder, caused by deficiency in the plasma membrane carnitine transporter. In this report, we aimed to describe the diagnosis and treatment of 12 PCD patients. Blood spots were collected from the children, and analysed using liquid chromatography-mass spectrometry (LC-MS). Newborns and children who had repeated lower dried blood spot free carnitine levels than the cut-off value will be recalled. Children who had positive recalled tests were subjected to confirmatory tests including urinary organic acid analysis with gas chromatography-mass spectrometry (GC-MS), urine ketone, glucose, ammonia, lactate, liver and kidney function, and molecular analysis, etc. Three children were diagnosed to have PCD clinically, and 9 by neonatal screening. One mother was also diagnosed to have PCD. Thirteen SLC22A5 gene mutations were found in these patients. The 9 patients identified by neonatal screening were asymptomatic at diagnosis, and had normal growth and development during follow-up. Two of the three clinically diagnosed patients turned normal after treatment, and the other showed retarded growth compared to his normal peers. PCD incidence is not that rare in China. It is crucial to increase the coverage of newborn screening for early diagnosis of PCD.
机译：原发性肉毒碱缺乏症（PCD）是一种罕见的常染色体隐性遗传疾病，由质膜肉毒碱转运蛋白的缺乏引起。在本报告中，我们旨在描述12名PCD患者的诊断和治疗。从孩子那里收集血斑，并使用液相色谱-质谱（LC-MS）分析。新生儿和儿童的干血斑游离肉碱水平反复低于临界值将被召回。回忆测试阳性的孩子接受了验证性测试，包括尿中有机酸的气相色谱-质谱分析（GC-MS），尿酮，葡萄糖，氨，乳酸盐，肝肾功能以及分子分析等。三名儿童临床上被诊断为患有PCD，新生儿筛查诊断为9。一位母亲也被诊断患有PCD。这些患者中发现了13个SLC22A5基因突变。通过新生儿筛查确定的9例患者在诊断时无症状，并且在随访期间生长和发育正常。经临床诊断的三位患者中有两位在治疗后恢复正常，另一位患者的生长较正常人慢。在中国，PCD的发病率并不罕见。对于PCD的早期诊断，增加新生儿筛查的覆盖范围至关重要。

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