Enzyme Replacement Therapy for Infantile Glycogen Storage Disease TypeⅡin Three Cases and Literature Review

doi:10.12114/j.issn.1007-9572.2019.00.347

Abstract

Abstract: Background　Children with infantile glycogen storage disease typeⅡ（GSD Ⅱ） have critical clinical manifestations.Without recombinant human acid alpha-glucosidase replacement therapy，they often die of heart failure or respiratory failure before the age of 1 year.At present，there is a lack of evaluation on the efficacy of enzyme replacement therapy（ERT） for GSD Ⅱ in China.GSD Ⅱ always is the most severe form and is characterized by cardiomyopathy，respiratory distress.And they generally results in death within the first year of life without ERT.Objective　To summarize ERT for infantile GSDⅡ，so as to provide reference for clinical treatment.Methods　Clinical data of three patients with infantile-onset GSD Ⅱ was collected at the First Affiliated Hospital，Sun Yat-sen University from March 2016 to December 2017.Myocardial hypertrophy and myasthenia were found in all patients，and GAA activity in peripheral blood was lower than normal.Recombinant human acid alpha-glucosidase enzyme therapy（20 mg/kg,1 time/14 days） was used in all patients.The vital signs，respiratory status，muscle strength，alanine aminotransferase（ALT），aspartate aminotransferase（AST），lactate dehydrogenase（LDH），creatine kinase（CK） and chest X-ray examination were observed and performed.Results　The main symptoms of three cases were limb weakness and dyspnea at the beginning of treatment.One case successfully weaned from the ventilator and two cases died after giving up treatment.After recombinant human GAA replacement therapy，muscle strength of three children improved significantly，ALT decreased in 2 cases and increased in 1 case；AST decreased in two cases and increased in one case；LDH decreased in one case and increased in two cases；CK decreased in two cases and increased in one case；chest X-ray examination showed large cardiac shadow in three children before treatment；after treatment，chest X-ray examination showed reduced cardiac shadow of children No.1 and No.2，and no significant change in children No.3.After treatment，the interventricular septum thickness decreased in three cases and left ventricular ejection fraction increased in three cases by color Doppler echocardiography.Conclusion　After reviewing literatures，recombinant human GAA replacement therapy for infantile GSD II is safe and effective，and can significantly improve cardiac function，muscle strength and respiratory function in patients.

Key words: Glycogen storage disease type Ⅱ, Infant, Enzyme replacement therapy, Lysosomal storage diseases, Recombinant human acid alpha-glucosidase, Neuromuscular diseases

摘要： 背景　婴儿型糖原贮积症Ⅱ型（GSD Ⅱ）患儿临床表现危重，未予重组人酸性α葡糖苷酶替代治疗时，常会在1岁前死于心力衰竭和或呼吸衰竭，目前国内缺少对婴儿型GSD Ⅱ酶替代治疗的疗效评估。目的　总结婴儿型GSD Ⅱ使用重组α葡萄糖苷酶治疗的效果，为临床治疗提供参考。方法　收集2016年3月—2017年12月在中山大学附属第一医院住院确诊的婴儿型GSD Ⅱ患儿3例，均有心肌肥厚和/或肌无力表现，外周血酸性α-葡糖苷酶（GAA）活性低于正常。患儿均接受重组人类GAA替代治疗，20 mg/kg，1次/2周。观测患儿生命体征、呼吸情况、肌力、丙氨酸氨基转氨酶（ALT）、天冬氨酸氨基转氨酶（AST）、乳酸脱氢酶（LDH）、肌酸激酶（CK）、胸部X线检查情况。结果　3例患儿开始治疗时症状均以四肢肌无力并呼吸困难为主要表现，1例成功撤离呼吸机，2例放弃治疗后死亡。3例患儿经重组人类GAA替代治疗肌力均明显好转，ALT下降2例，升高1例；AST下降2例，升高1例；LDH下降1例，升高2例；CK下降2例，升高1例；3例患儿治疗前的胸部X线检查示心影大；治疗后患儿1、2胸部X线检查示心影缩小，患儿3胸部X线检查示心影变化不明显。治疗后心脏彩超示室间隔厚度下降3例；左心室射血分数提升3例。结论　结合文献复习，重组人GAA替代治疗婴儿型GSD Ⅱ安全有效，可明显改善患儿心功能、肌力及呼吸功能。

关键词: 糖原贮积病Ⅱ型；婴儿；酶替代疗法；溶酶体贮积病；重组人酸性&alpha, -葡糖苷酶；神经肌肉疾病

XU Lingling,BA Hongjun,LI Suping, et al. Enzyme Replacement Therapy for Infantile Glycogen Storage Disease TypeⅡin Three Cases and Literature Review　[J]. Chinese General Practice, 2019, 22(27): 3377-3382. DOI: 10.12114/j.issn.1007-9572.2019.00.347.
徐玲玲,巴宏军,李素萍等. 婴儿型糖原贮积症Ⅱ型酶替代治疗三例并文献复习[J]. 中国全科医学, 2019, 22(27): 3377-3382. DOI: 10.12114/j.issn.1007-9572.2019.00.347.

References

［1］BODAMER O A，SCOTT C R，GIUGLIANI R，et al．Newborn screening for pompe disease［J］．Pediatrics，2017，140（Supplement 1）：S4-13．DOI：10.1542/peds.2016-0280c.
［2］TARNOPOLSKY M，KATZBERG H，PETROF B J，et al．Pompe disease：diagnosis and management.evidence-based guidelines from a Canadian expert panel［J］．Can J Neurol Sci，2016，43（4）：472-485．DOI：10.1017/cjn.2016.37.
［3］OWENS P，WONG M，BHATTACHARYA K，et al．Infantile-onset Pompe disease：a case series highlighting early clinical features，spectrum of disease severity and treatment response［J］．J Paediatr Child Health，2018，54（11）：1255-1261．DOI：10.1111/jpc.14070.
［4］YANG C F，YANG C C，LIAO H C，et al．Very early treatment for infantile-onset pompe disease contributes to better outcomes［J］．J Pediatr，2016，169：174-180.e1．DOI：10.1016/j.jpeds.2015.10.078.
［5］NIYAZOV D，LARA D A.Improvement in cardiac function with enzyme replacement therapy in a patient with infantile-onset pompe disease［J］．Ochsner J，2018，18（4）：413-416．DOI：10.31486/toj.18.0049.
［6］PRATER S N，BANUGARIA S G，DEARMEY S M，et al．The emerging phenotype of long-term survivors with infantile Pompe disease［J］．Genet Med，2012，14（9）：800-810．DOI：10.1038/gim.2012.44.
［7］SACCONI S，WAHBI K，THEODORE G，et al．Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease［J］．Neuromuscul Disord，2014，24（7）：648-650．DOI：10.1016/j.nmd.2014.04.005.
［8］BYRNE B J，KISHNANI P S，CASE L E，et al．Pompe disease：design，methodology，and early findings from the Pompe Registry［J］．Mol Genet Metab，2011，103（1）：1-11．DOI：10.1016/j.ymgme.2011.02.004.
［9］YANG C F，YANG C C，LIAO H C，et al．Very early treatment for infantile-onset pompe disease contributes to better outcomes［J］．J Pediatr，2016，169：174-180.e1．DOI：10.1016/j.jpeds.2015.10.078.
［10］KISHNANI P S，CORZO D，LESLIE N D，et al．Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease［J］．Pediatr Res，2009，66（3）：329-335．DOI：10.1203/PDR.0b013e3181b24e94.
［11］KISHNANI P S，HWU W L，MANDEL H，et al．A retrospective，multinational，multicenter study on the natural history of infantile-onset Pompe disease［J］．J Pediatr，2006，148（5）：671-676．DOI：10.1016/j.jpeds.2005.11.033.
［12］CHEN L R，CHEN C N，CHIU S N，et al．Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease［J］．J Pediatr，2009，155（2）：271-275.e2．DOI：10.1016/j.jpeds.2009.03.015.
［13］CHEN C N，CHIEN Y H，HWU W L，et al．Left ventricular geometry，global function，and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy［J］．J Card Fail，2011，17（11）：930-936．DOI：10.1016/j.cardfail.2011.07.011.
［14］CHAKRAPANI A，VELLODI A，ROBINSON P，et al．Treatment of infantile Pompe disease with alglucosidase alpha：the UK experience［J］．J Inherit Metab Dis，2010，33（6）：747-750．DOI：10.1007/s10545-010-9206-3.
［15］ANDREASSEN C S，SCHLüTTER J M，VISSING J，et al．Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up［J］．Mol Genet Metab，2014，112（1）：40-43．DOI：10.1016/j.ymgme.2014.02.015.
［16］CHO A，KIM S J，LIM B C，et al．Infantile Pompe disease：clinical and genetic characteristics with an experience of enzyme replacement therapy［J］．J Child Neurol，2012，27（3）：319-324．DOI：10.1177/0883073811420295.
［17］DEROMA L，GUERRA M，SECHI A，et al．Enzyme replacement therapy in juvenile glycogenosis type II：a longitudinal study［J］．Eur J Pediatr，2014，173（6）：805-813．DOI：10.1007/s00431-013-2258-2.
［18］张寒冰，张为民，仇佳晶，等．糖原累积病Ⅱ型（Pompe病）17例临床特点和转归［J］．中华儿科杂志，2012，50（6）：415-419．DOI：10.3760/cma.j.issn.0578-1310.2012.06.004.
ZHANG H B，ZHANG W M，QIU J J，et al．Clinical sequelae of 17 cases with glycogen storage disease type Ⅱ/Pompe disease［J］．Chinese Journal of Pediatrics，2012，50（6）：415-419．DOI：10.3760/cma.j.issn.0578-1310.2012.06.004.

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