遗传代谢病的诊治

宋元宗，男，医学博士，教授，主任医师，博士研究生导师，博士后合作导师，暨南大学附属第一医院儿科副主任(主管医疗工作)，广东省医学会医学遗传学分会委员，广东省医学会罕见病学分会委员。专业方向是小儿遗传病的诊断治疗工作，擅长生化遗传学和分子遗传学。2001年起在国内较早开展遗传代谢病的GC-MS法高危筛查工作。2006年报道国内首例NICCD患者。2006年8月至2007年10月国家公派留学日本，在Citrin缺陷病之母小林圭子博士研究小组从事Citrin缺陷病致病基因SLC25A13新突变识别和分子诊断技术开发。回国后积极开展Citrin缺陷病的基因诊断工作，发现并报道Citrin缺陷病新临床表型FTTDCD，研究并提出治疗奶粉改善NICCD病情的可能机理。主办国家级继续医学教育项目两个，培训全国各地学员120余人。近年来主持国家自然科学基金面上项目3项的科学研究。已接诊来自20多个省、直辖市和自治区的患儿，在遗传代谢病，尤其是Citrin缺陷病的诊治方面已形成专业优势。健康报和中国医学论坛报等多家平面媒体,以及CCTV-10走近科学栏目均曾做过报道。十余次应邀在国际会议上发表演讲，并六次获得国际奖项。获奖情况：1.Asian Young Investigator Award,5th Annual Meeting of the Asian Society for Inherited Metabolic Diseases,Kumamoto,Japan,20052.Young Investigators Award,10th International Congress of Inborn Errors of Metabolism. Chiba,Japan,20063.Award for Excellent Study, 8th Annual Meeting of the Asian Society for Inherited Metabolic Diseases, Tokyo, Japan, 20094.Award for Excellent Study, 9th Annual Meeting of the Asian Society for Inherited Metabolic Diseases, Osaka, Japan, 20105.Asian Investigator's Award, 10th Annual Meeting of the Asian Society for Inherited Metabolic Diseases, Chiba, Japan, 2011.6.Asian Young Investigator's Award. 11th Annual Meeting of the Asian Society for Inherited Metabolic Diseases.Gifu, Japan, 2012.学术论文：1. Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, Kobayashi K, Wang ZN, Zheng XY. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China. Clin Biochem. 2008, 41(7-8): 616-620.2. Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, Saheki T, Zheng XY. Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China [J]. Dig Liver Dis.2009,41(9):683-689.3. Song YZ, Wen F, Chen FP, Kobayashi K, Saheki T. Neonatal intrahepatic cholestasis caused by citrin deficiency: efficacy of therapeutic formulas and update of clinical outcomes [J]. Jpn J Inherit Metab Dis. 2010, 26(1):57-69.4. Guo L, Li BX, Deng M, Wen F, Jiang JH, Tan YQ, Song YZ, Liu ZH, Zhang CH, Kobayashi K, Wang ZN.Etiological analysis of neurodevelopmental disabilities: Single-center eight-year clinical experience in south China[J].J Biomed Biotechnol. 2011;2011. pii: 318616. (Corresponding author)5. Song YZ, Deng M, Chen FP, Wen F, Guo L, Cao SL, Gong J, Xu H, Jiang GY, Zhong L, Kobayashi K, Saheki T, Wang ZN.Genotypic and phenotypic features of citrin deficiency: Five-year experience in a Chinese pediatric center[J]. Int J Mol Med.2011,28(1):33-40.6.Zhao XJ, Tang XM, Zha QB, Shi SS, Song YZ, Xiao XM.Prenatal diagnosis of citrin deficiency in a chinese family with a fatal proband[J].Tohoku J Exp Med. 2011;225(4):273-276.(Corresponding author)7.Lin WX, Zhang ZH, Deng M, Cai XR, Song YZ.Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis[J]. Gene. 2012;505(2):269-275.(Corresponding author)8.Zhang ZH, Lin WX, Deng M, Zhao XJ, Song YZ.Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency.Gene. 2012;511(2):227-234.(Corresponding author)9. Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, Sunada Y, Soneda S, Nakatomi A, Dateki S, Ngu LH, Kobayashi K, Saheki T. SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in Asian patients, and the mutation distribution in a large pediatric cohort in China. PLoS One. 2013, 8(9):e74544.10. 宋元宗, 牛美晴, 盛建胜, u雄, 小林圭子. Citrin缺陷导致的新生儿肝内胆汁淤积症家系SLC25A13基因突变研究. 中华儿科杂志. 2007, 45(6): 408-412.11. 宋元宗, 盛建胜, 牛美晴, 胡樟, 张春花, 小林圭子. Citrin缺陷导致的新生儿肝内胆汁淤积症SLC25A13基因三个新突变的识别及诊断. 中华儿科杂志. 2008, 46(6): 411-415.12. 宋元宗,牛美晴,小林圭子,佐伯武赖. 小儿胆汁淤积性肝病的原因学特征.中华儿科杂志,2009,47(8):624-627.