探讨海南省少数民族地区新生儿多种遗传代谢病(IEM)的发病情况。

选择2018年1月1日至2020年1月31日，在海南省少数民族地区出生、监护人同意进行新生儿IEM筛查的37 482例新生儿为研究对象。采用串联质谱法，对新生儿足跟血(滤纸干血斑标本)进行新生儿多种IEM筛查，对结果疑似IEM的部分新生儿，釆集外周血进行基因检测，以确诊其IEM种类、基因突变情况。采用χ²检验，对海南省少数民族地区男性与女性患儿IEM最低发病率进行统计学比较。本研究经海南省人民医院医学伦理委员会批准[审批文号：医伦(2018)第14号]。

①海南省少数民族地区上述研究时间内出生的38 586例活产新生儿中，37 482例接受IEM筛查，新生儿IEM筛查覆盖率为97.1%。②37 482例新生儿中，筛查结果疑似IEM的新生儿为89例，其中24例接受基因检测，19例确诊为IEM，24例疑似IEM新生儿的IEM确诊率为79.2%(19/24)。由于仅部分可疑IEM新生儿接受基因检测，故海南省少数民族地区新生儿IEM最低发病率为51/10万(19/37 482)。其中，男性新生儿IEM最低发病率为57/10万(12/21 136)，女性为43/10万(7/16 346)，二者比较，差异无统计学意义(χ²＝0.354、P＝0.552)。③19例确诊IEM新生儿均发生基因突变，其中氨基酸代谢病为5例、有机酸代谢病为5例、尿素循环障碍为2例、脂肪酸β氧化代谢障碍为7例。

海南省少数民族地区新生儿IEM发病率较高、种类较多。建议在海南省少数民族地区开展新生儿多种IEM筛查，改善IEM新生儿生活质量。

To explore the incidence of various inborn errors metabolism (IEM) in newborns in minority nationality regions of Hainan Province.

A total of 37 482 newborns born from January 1, 2018 to January 31, 2020 in minority nationality regions of Hainan Province were selected as research subjects. All guardians of these newborns agreed to be screened for IEM. Tandem mass spectrometry was used to screen neonatal heel blood (dried blood spots of disk bioassay) for various IEM. For part of newborns whose screening results were suspicious of IEM, their peripheral blood were collected and sent out for genetic testing to confirm the types of IEM and genetic mutations.The lowest incidence of IEM between male and female children in minority nationality regions of Hainan Province were compared statistically by chi-square test. This study was approved by the Medical Ethics Committee of Hainan General Hospital [Approval No. Medical Ethics (2018) No. 14].

① Among 38 586 live births in research regions during the research period, there were 37 482 cases received IEM screening, and the coverage rate of neonatal IEM screening was 97.1%. ②Among 37 482 newborns, 89 of them were suspected of IEM. Among 89 suspected of IEM newborns, 24 of them were conducted genetic testing, and 19 were firmly diagnosed as IEM. The diagnostic rate of IEM in 24 suspected newborns was 79.2% (19/24).Because only part of newborns with suspected IEM received genetic testing, the lowest incidence of IEM among newborns in the research regions was 51/100 000 (19/37 482). In this study, the lowest incidence of IEM were 57/100 000 (12/21 136) for males and 43/100 000 (7/16 346) for females newborns, and there was no significant difference between them (χ²=0.354, P=0.552). ③ Among 19 newborns with firmly diagnosis of IEM all had gene mutations, and there were 5 cases of aminoacidopathy, 5 cases of organic acid metabolism disorder, 2 cases of urea circulation disorder and 7 cases of fatty acid β oxidation metabolism disorder, respectively.

The incidence of IEM in newborns in the research regions was relatively high and with many types.We suggest that various IEM screening should be carried out among newborns in minority nationality regions of Hainan Province to improve life quality of IEM newborns.