儿童遗传代谢病的研究进展

doi:10.7499/j.issn.1008-8830.2111010

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Abstract With the improvement in the research level and the diagnosis and treatment technology of inherited metabolic diseases (IMD), the research on pediatric IMD in China has made great progress, but there is still some distance from the international level. Due to the vast territory of China and the uneven distribution of medical resources, the regional characteristics of IMD remain unclear in China, and there are many problems and difficulties in early diagnosis and treatment. Therefore, it is necessary to improve the understanding of pediatric IMD among pediatricians, so as to improve the diagnosis and treatment level, achieve an early identification, diagnosis, and treatment of pediatric IMD, and effectively reduce the fatality and disability rates of children with IMD. This article reviews the research progress of IMD in children in China, and analyzes the features of representative IMDs. Citation:Chinese Journal of Contemporary Pediatrics, 2022, 24(3): 326-331

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	LI Yu-Jian
	KAN Xuan

Key words： Inherited metabolic disease Diagnosis Treatment Screening Child

Received: 03 November 2021

Cite this article:

LI Yu-Jian,KAN Xuan. Recent research on inherited metabolic diseases in children[J]. CJCP, 2022, 24(3): 326-331.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2111010 OR http://www.zgddek.com/EN/Y2022/V24/I3/326

	1 胡亚美, 江载芳, 申昆玲, 等. 诸福棠实用儿科学(下册)[M]. 8版. 北京: 人民卫生出版社, 2015.
	Herle M, Brunner-Krainz M, Karall D, et al. A retrospective study on disease management in children and adolescents with phenylketonuria during the COVID-19 pandemic lockdown in Austria[J]. Orphanet J Rare Dis, 2021, 16(1): 367. PMID: 34412683. PMCID: PMC8374407. DOI: 10.1186/s13023-021-01996-x.
	3 中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组, 中华医学会儿科学分会临床营养学组, 中华医学会儿科学分会内分泌遗传代谢学组, 等. 单纯型甲基丙二酸尿症饮食治疗与营养管理专家共识[J]. 中国实用儿科杂志, 2018, 33(7): 481-486. DOI: 10.19538/j.ek2018070601.
	苏利沙, 胡爽, 孔祥东. 高通量测序技术在甲基丙二酸血症基因诊断中的应用及其局限性[J]. 中华医学遗传学杂志, 2021, 38(8): 740-744. PMID: 34365614. DOI: 10.3760/cma.j.cn511374-20200321-00187.
	Oberholzer VG, Levin B, Burgess EA, et al. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis[J]. Arch Dis Child, 1967, 42(225): 492-504. PMID: 6061291. PMCID: PMC2019805. DOI: 10.1136/adc.42.225.492.
	6 杨艳玲, 张月华, 姜玉武. 甲基丙二酸尿症一例[J]. 中华儿科杂志, 2000, 38(7): 450. DOI: 10.3760/j.issn:0578-1310.2000.07.030.
	7 杨艳玲, 莫若, 陈哲晖. 甲基丙二酸血症的多学科综合治疗与防控[J]. 中华实用儿科临床杂志, 2020, 35(9): 647-652. DOI: 10.3760/cma.j.cn101070-20200324-00493.
	Baumgartner MR, H?rster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia[J]. Orphanet J Rare Dis, 2014, 9: 130. PMID: 25205257. PMCID: PMC4180313. DOI: 10.1186/s13023-014-0130-8.
	Zhou W, Li HZ, Wang CX, et al. Newborn screening for methylmalonic acidemia in a Chinese population: molecular genetic confirmation and genotype phenotype correlations[J]. Front Genet, 2019, 9: 726. PMID: 30728829. PMCID: PMC6351470. DOI: 10.3389/fgene.2018.00726.
	黄新文, 杨建滨, 童凡, 等. 串联质谱技术对新生儿遗传代谢病的筛查及随访研究[J]. 中华儿科杂志, 2011, 49(10): 765-770. PMID: 22321184. DOI: 10.3760/cma.j.issn.0578-1310.2011.10.013.
	Keyfi F, Talebi S, Varasteh AR. Methylmalonic acidemia diagnosis by laboratory methods[J]. Rep Biochem Mol Biol, 2016, 5(1): 1-14. PMID: 28070528. PMCID: PMC5214677.
	Zhang C, Wang X, Hao SJ, et al. Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia[J]. Sci Rep, 2020, 10(1): 12509. PMID: 32719376. PMCID: PMC7385101. DOI: 10.1038/s41598-020-69565-z.
	康路路, 刘玉鹏, 沈鸣, 等. 314例单纯型甲基丙二酸血症的临床表型和基因型研究[J]. 中华儿科杂志, 2020, 58(6): 468-475. PMID: 32521958. DOI: 10.3760/cma.j.cn112140-20200401-00339.
	May FJ, Head PE, Venturoni LE, et al. Central nervous system-targeted adeno-associated virus gene therapy in methylmalonic acidemia[J]. Mol Ther Methods Clin Dev, 2021, 21: 765-776. PMID: 34169115. PMCID: PMC8188058. DOI: 10.1016/j.omtm.2021.04.005.
	Jiang YZ, Zhou GP, Wu SS, et al. Safety and efficacy of liver transplantation for methylmalonic acidemia: a systematic review and meta-analysis[J]. Transplant Rev (Orlando), 2021, 35(1): 100592. PMID: 33422927. DOI: 10.1016/j.trre.2020.100592.
	Gunduz M, ünal-Uzun ?, Ko? N, et al. Molecular and clinical findings of Turkish patients with hereditary fructose intolerance[J]. J Pediatr Endocrinol Metab, 2021, 34(8): 1017-1022. PMID: 34162028. DOI: 10.1515/jpem-2021-0303.
	Crisp KD, Neel AT, Amarasekara S, et al. Assessment of dysphonia in children with Pompe disease using auditory-perceptual and acoustic/physiologic methods[J]. J Clin Med, 2021, 10(16): 3617. PMID: 34441913. PMCID: PMC8396833. DOI: 10.3390/jcm10163617.
	中华医学会儿科学分会内分泌遗传代谢学组, 中华医学会医学遗传学分会, 中华医学会儿科学分会罕见病学组, 等. 儿童糖原累积病Ⅱ型诊断及治疗中国专家共识[J]. 中华儿科杂志, 2021, 59(6): 439-445. PMID: 34102815. DOI: 10.3760/cma.j.cn112140-20201210-01094.
	19 Pompe JC. Over idiopathische hypertrophie van het hart[J]. Ned Tijdschr Geneeskd, 76, 1932: 304-311.
	Fatehi F, Ashrafi MR, Babaee M, et al. Recommendations for infantile-onset and late-onset Pompe disease: an Iranian consensus[J]. Front Neurol, 2021, 12: 739931. PMID: 34621239. PMCID: PMC8490649. DOI: 10.3389/fneur.2021.739931.
	Byrne BJ, Colan SD, Kishnani PS, et al. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort[J]. Cardiol Young, 2021. PMID: 34420548. DOI: 10.1017/S1047951121002079. Epub ahead of print.
	Thuriot F, Gravel E, Hodson K, et al. Molecular diagnosis of Pompe disease in the genomic era: correlation with acid alpha-glucosidase activity in dried blood spots[J]. J Clin Med, 2021, 10(17): 3868. PMID: 34501319. PMCID: PMC8432085. DOI: 10.3390/jcm10173868.
	Tarallo A, Damiano C, Strollo S, et al. Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease[J]. EMBO Mol Med, 2021, 13(11): e14434. PMID: 34606154. PMCID: PMC8573602. DOI: 10.15252/emmm.202114434.
	Kuehn BM. New treatment approved for adults and children with Pompe disease[J]. JAMA, 2021, 326(11): 1000. PMID: 34546313. DOI: 10.1001/jama.2021.15588.
	Dumitrascu DL. Gaucher disease: an update[J]. Med Pharm Rep, 2021, 94(Suppl No 1): S54-S56. PMID: 34527912. PMCID: PMC8411812. DOI: 10.15386/mpr-2231.
	Chis BA, Chis AF, Dumitrascu DL. Gaucher disease—bone involvement[J]. Med Pharm Rep, 2021, 94(Suppl No 1): S61-S63. PMID: 34527914. PMCID: PMC8411829. DOI: 10.15386/mpr-2233.
	27 Gaucher P. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie[D]. Paris: Octave Doin, 1882.
	28 史惠, 陈日玲. 戈谢病Ⅱ型1例报道并文献复习[J]. 中国中西医结合儿科学, 2019, 11(1): 91-93. DOI: 10.3969/j.issn.1674-3865.2019.01.026.
	29 张莉, 张丽丽, 安会波. 儿童戈谢病1例[J]. 临床与实验病理学杂志, 2021, 37(8): 1017-1018. DOI: 10.13315/j.cnki.cjcep.2021.08.032.
	U?urelu N, Bl?ni?? D, Boiciuc C, et al. Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova—case report[J]. Med Pharm Rep, 2021, 94(Suppl No 1): S57-S60. PMID: 34527913. PMCID: PMC8411813. DOI: 10.15386/mpr-2232.
	31 北京协和医院罕见病多学科协作组. 戈谢病多学科诊疗专家共识(2020)[J]. 协和医学杂志, 2020, 11(6): 682-697. DOI: 10.3969/j.issn.1674-9081.2020.06.010.
	32 吴小英, 甘川, 许红梅, 等. 不同类型戈谢病患儿感染风险差异分析[J]. 中国循证儿科杂志, 2021, 16(2): 152-155. DOI: 10.3969/j.issn.1673-5501.2021.02.014.
	33 郭鱼, 陈俊杰, 岑瑛. 着色性干皮病诊治现状与展望[J]. 西部医学, 2019, 31(7): 1145-1148. DOI: 10.3969/j.issn.1672-3511.2019.07.034.
	Plante J, Strat N, Snyder A, et al. Xeroderma pigmentosum presenting as a diffuse midline glioma in a patient with skin of color[J]. JAAD Case Rep, 2021, 13: 141-143. PMID: 34195325. PMCID: PMC8226388. DOI: 10.1016/j.jdcr.2021.05.030.
	Kohn DB, Booth C, Shaw KL, et al. Autologous ex vivo lentiviral gene therapy for adenosine deaminase deficiency[J]. N Engl J Med, 2021, 384(21): 2002-2013. PMID: 33974366. PMCID: PMC8240285. DOI: 10.1056/NEJMoa2027675.
	36 柏翠, 郭兴青, 高婷婷, 等. 儿童腺苷脱氨酶2缺乏症2例并文献复习[J]. 中华实用儿科临床杂志, 2020, 35(21): 1674-1677. DOI: 10.3760/cma.j.cn101070-20200704-01124.
	37 李冀, 武跃芳, 钟林庆, 等. 儿童腺苷脱氨酶2缺乏症1例临床特征和基因分析并文献复习[J]. 中国实用儿科杂志, 2018, 33(10): 800-804. DOI: 10.19538/j.ek2018100614.
	38 冯雪, 李基, 伍丽. 新生儿Zellweger综合征1例的临床及基因诊断[J]. 哈尔滨医药, 2020, 40(5): 495-496.
	Imanaka T. Biogenesis and function of peroxisomes in human disease with a focus on the ABC transporter[J]. Biol Pharm Bull, 2019, 42(5): 649-665. PMID: 31061307. DOI: 10.1248/bpb.b18-00723.
	40 叶畅, 程国强, 王来栓, 等. PEX1基因变异致新生儿Zellweger综合征二例并文献复习[J]. 中华新生儿科杂志(中英文), 2019, 34(3): 197-202. DOI: 10.3760/cma.j.issn.2096-2932.2019.03.008.
	Steinberg S, Jones R, Tiffany C, et al. Investigational methods for peroxisomal disorders[J]. Curr Protoc Hum Genet, 2008, Chapter 17: Unit 17.6. PMID: 18633975. DOI: 10.1002/0471142905.hg1706s58.
	Hui WF, Hon KL, Leung AKC, et al. Tubular dysfunction and ruptured ureter in a child with Menkes syndrome[J]. Case Rep Pediatr, 2021, 2021: 4398456. PMID: 34457367. PMCID: PMC8387186. DOI: 10.1155/2021/4398456.
	Martinez-Fierro ML, Cabral-Pacheco GA, Garza-Veloz I, et al. Whole-exome sequencing, proteome landscape, and immune cell migration patterns in a clinical context of Menkes disease[J]. Genes (Basel), 2021, 12(5): 744. PMID: 34069220. PMCID: PMC8156642. DOI: 10.3390/genes12050744.
	44 方峰. 儿童肝豆状核变性的长期治疗与随访管理[J]. 临床肝胆病杂志, 2017, 33(10): 1936-1938. DOI: 10.3969/j.issn.1001-5256.2017.10.017.
	45 曹海霞, 范建高. 欧洲儿童肝豆状核变性诊疗推荐意见简介[J]. 实用肝脏病杂志, 2018, 21(4): 502-504. DOI: 10.3969/j.issn.1672-5069.2018.04.004.
	Sánchez-Monteagudo A, Ripollés E, Berenguer M, et al. Wilson's disease: facing the challenge of diagnosing a rare disease[J]. Biomedicines, 2021, 9(9): 1100. PMID: 34572285. PMCID: PMC8471362. DOI: 10.3390/biomedicines9091100.
	Jacquelet E, Poujois A, Pheulpin MC, et al. Adherence to treatment, a challenge even in treatable metabolic rare diseases: a cross sectional study of Wilson's disease[J]. J Inherit Metab Dis, 2021, 44(6): 1481-1488. PMID: 34480375. DOI: 10.1002/jimd.12430.
	Shribman S, Poujois A, Bandmann O, et al. Wilson's disease: update on pathogenesis, biomarkers and treatments[J]. J Neurol Neurosurg Psychiatry, 2021, 92(10): 1053-1061. PMID: 34341141. DOI: 10.1136/jnnp-2021-326123.
	49 国家卫生健康委员会临床检验中心新生儿遗传代谢病筛查室间质评委员会, 欧明才, 江剑辉. 新生儿遗传代谢病筛查随访专家共识[J]. 中华医学遗传学杂志, 2020, 37(4): 367-372. DOI:10.3760/cma.j.issn.1003-9406.2020.04.002.
	50 国家卫生健康委员会临床检验中心新生儿遗传代谢病筛查室间质量评价委员会. 早产儿低体重儿及患病儿遗传代谢病筛查共识[J]. 中国实用儿科杂志, 2020, 35(3): 180-184. DOI:10.19538/j.ek2020030603.
	51 应艳琴, 罗小平. 新生儿遗传代谢病筛查与基因诊断的现状与展望[J]. 中华围产医学杂志, 2021, 24(2): 85-88. DOI: 10.3760/cma.j.cn113903-20210125-00078.