重型糖原贮积病Ⅱ型呼吸机撤机困难的对策
|
摘要
目的探讨糖原贮积病Ⅱ型患儿撤机困难对策。方法 2015年10月至2017年9月共治疗6例撤机困难的糖原贮积病Ⅱ型患儿(儿童型3例、婴儿型3例),综合治疗措施包括抗生素治疗呼吸机相关肺炎、鼓励自主咳痰、自主呼吸锻炼、增加营养、心理支持等,以及重组人α-葡糖苷酶替代治疗[20 mg/(kg·次)、1次/2周]并序贯呼吸机撤机(有创呼吸机过渡至无创呼吸机再撤机)。结果 6例患儿经重组人α-葡糖苷酶替代治疗和序贯呼吸机撤机综合治疗后,呼吸功能和四肢肌力均得到改善,3例成功撤机、1例撤机失败、2例死亡。结论糖原贮积病Ⅱ型患儿经预防呼吸机相关肺炎、自主呼吸锻炼、增加营养,以及重组人α-葡糖苷酶替代治疗等综合治疗后,可使呼吸功能和四肢肌力改善,然后尝试程序化撤机可提高撤机困难患儿的撤机成功率。
Objective To explore the treatment of difficult-to-wean patients with glycogen storage disease type Ⅱ(GSDⅡ) complicated with respiratory failure.Methods A total of 6 patients with GSDⅡ(3 children and 3 infants) who were admitted due to weak respiratory muscle and had difficulty in weaning off ventilator were treated in our hospital from October 2015 to September 2017. They received comprehensive treatment of antibiotics for ventilator-associated pneumonia, encouraging voluntary expectoration, respiratory muscle exercises, nutrition strengthening, psychological support, and enzyme replacement treatment(ERT) by using recombinant human acid α-glucosidase [rhGAA, 20 mg/(kg·time),once/biweekly]. These patients gradually transformed from invasive ventilator at biphasic positive airway pressure(BiPAP) mode and continuous positive airway pressure(CPAP) mode to non-invasive ventilator and high flow oxygen therapy.Results The respiratory function and limb muscle strength of all patients were improved after ERT and sequential weaning. With comprehensive treatment, 3 patients weaned off ventilator, one patient underwent endotracheal intubation, and 2 patients died.Conclusions With comprehensive treatment of preventing ventilator-associated pneumonia, respiratory muscle exercises,nutrition strengthening, and ERT using rhGAA, the respiratory function and limb muscle strength were improved in GSD Ⅱ patients. Programmed weaning procedure increases the treatment success rate of difficult-to-wean patients.
Objective To explore the treatment of difficult-to-wean patients with glycogen storage disease type Ⅱ(GSDⅡ) complicated with respiratory failure.Methods A total of 6 patients with GSDⅡ(3 children and 3 infants) who were admitted due to weak respiratory muscle and had difficulty in weaning off ventilator were treated in our hospital from October 2015 to September 2017. They received comprehensive treatment of antibiotics for ventilator-associated pneumonia, encouraging voluntary expectoration, respiratory muscle exercises, nutrition strengthening, psychological support, and enzyme replacement treatment(ERT) by using recombinant human acid α-glucosidase [rhGAA, 20 mg/(kg·time),once/biweekly]. These patients gradually transformed from invasive ventilator at biphasic positive airway pressure(BiPAP) mode and continuous positive airway pressure(CPAP) mode to non-invasive ventilator and high flow oxygen therapy.Results The respiratory function and limb muscle strength of all patients were improved after ERT and sequential weaning. With comprehensive treatment, 3 patients weaned off ventilator, one patient underwent endotracheal intubation, and 2 patients died.Conclusions With comprehensive treatment of preventing ventilator-associated pneumonia, respiratory muscle exercises,nutrition strengthening, and ERT using rhGAA, the respiratory function and limb muscle strength were improved in GSD Ⅱ patients. Programmed weaning procedure increases the treatment success rate of difficult-to-wean patients.
引文
[1]Filosto M,Todeschini A,Cotelli MS,Vielmi V,Rinaldi F,Rota S,Scarpelli M,Padovani A.Non-muscle involvement in lateonset glycogenosisⅡ[J].Acta Myol,2013,32:91-94.
[2]Quinnell TG,Pilsworth S,Shneerson JM,Smith IE.Prolonged invasive ventilation following acute ventilatory failure in COPD:weaning results,survival,and the role of noninvasive ventilation[J].Chest,2006,129:133-139.
[3]Chakrapani A,Vellodi A,Robinson P,Jones S,Wraith JE.Treatment of infantile Pompe disease with alglucosidase alpha:the UK experience[J].J Inherit Metab Dis,2010,33:747-750.
[4]Llerena Junior JC,Nascimento OJ,Oliveira AS,Dourado Junior ME,Marrone CD,Siqueira HH,Sobreira CF,Dias-Tosta E,Werneck LC.Guidelines for the diagnosis,treatment and clinical monitoring of patients with juvenile and adult Pompe disease[J].Arq Neuropsiquiatr,2016,74:166-176.
[5]Chien YH,Hwu WL,Lee NC.Pompe disease:early diagnosis and early treatment make a difference[J].Pediatr Neonatol,2013,54:219-227.
[6]Chien YH,Lee NC,Chen CA,Tsai FJ,Tsai WH,Shieh JY,Huang HJ,Hsu WC,Tsai TH,Hwu WL.Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth[J].J Pediatr,2015,166:985-991.
[7]Boentert M,Prigent H,Várdi K,Jones HN,Mellies U,Simonds AK,Wenninger S,Barrot Cortés E,Confalonieri M.Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease[J].Int J Mol Sci,2016,17:E1735.
[8]Yeung J,Couper K,Ryan EG,Gates S,Hart N,Perkins GD.Non-invasive ventilation as a strategy for weaning from invasive mechanical ventilation:a systematic review and Bayesian metaanalysis[J].Intensive Care Med,2018,44:2192-2204.
[9]van der Beek NA,van Capelle CI,van der Velden-van Etten KI,Hop WC,van den Berg B,Reuser AJ,van Doorn PA,van der Ploeg AT,Stam H.Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease[J].Mol Genet Metab,2011,104(1/2):129-136.
[10]Broomfield A,Fletcher J,Davison J,Finnegan N,Fenton M,Chikermane A,Beesley C,Harvey K,Cullen E,Stewart C,Santra S,Vijay S,Champion M,Abulhoul L,Grunewald S,Chakrapani A,Cleary MA,Jones SA,Vellodi A.Response of33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy[J].J Inherit Metab Dis,2016,39:261-271.
[11]Damuth E,Mitchell JA,Bartock JL,Roberts BW,Trzeciak S.Long-term survival of critically ill patients treated with prolonged mechanical ventilation:a systematic review and metaanalysis[J].Lancet Respir Med,2015,3:544-553.
[12]Joanne M,Skye N,Tracy M.The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease:a systematic review[J].J Inherit Metab Dis,2019,42:57-65.
[13]Deroma L,Guerra M,Sechi A,Ciana G,Cisilino G,Dardis A,Bembi B.Enzyme replacement therapy in juvenile glycogenosis typeⅡ:a longitudinal study[J].Eur J Pediatr,2014,173:805-813.
[14]Falk DJ,Todd AG,Lee S,Soustek MS,ElMallah MK,Fuller DD,Notterpek L,Byrne BJ.Peripheral nerve and neuromuscular junction pathology in Pompe disease[J].Hum Mol Genet,2015,24:625-636.
[15]Boentert M,Dr?ger B,Glatz C,Young P.Sleep-disordered breathing and effects of noninvasive ventilation in patients with late-onset Pompe disease[J].J Clin Sleep Med,2016,12:1623-1632.
[16]Hooijman PE,Beishuizen A,de Waard MC,de Man FS,Vermeijden JW,Steenvoorde P,Bouwman RA,Lommen W,van Hees HW,Heunks LM,Dickhoff C,van der Peet DL,Girbes AR,Jasper JR,Malik FI,Stienen GJ,Hartemink KJ,Paul MA,Ottenheijm CA.Diaphragm fiber strength is reduced in critically ill patients and restored by a troponin activator[J].Am J Respir Crit Care Med,2014,189:863-865.
[17]Smith BK,Fuller DD,Martin AD,Lottenberg L,Islam S,Lawson LA,Onders RP,Byrne BJ.Diaphragm pacing as a rehabilitative tool for patients with Pompe disease who are ventilator-dependent:case series[J].Phys Ther,2016,96:696-703.
[18]Remiche G,Ronchi D,Magri F,Lamperti C,Bordoni A,Moggio M,Bresolin N,Comi GP.Extended phenotype description and new molecular findings in late onset glycogen storage disease typeⅡ:a northern Italy population study and review of the literature[J].J Neurol,2014,261:83-97.
[19]Jones HN,Crisp KD,Robey RR,Case LE,Kravitz RM,Kishnani PS.Respiratory muscle training(RMT)in late-onset Pompe disease(LOPD):effects of training and detraining[J].Mol Genet Metab,2016,117:120-128.
[20]Jones HN,Crisp KD,Moss T,Strollo K,Robey R,Sank J,Canfield M,Case LE,Mahler L,Kravitz RM,Kishnani PS.Effects of respiratory muscle training(RMT)in children with infantile-onset Pompe disease and respiratory muscle weakness[J].J Pediatr Rehabil Med,2014,7:255-265.
[21]Datta D,Foley R,Wu R,Grady J,Scalise P.Can creatinine height index predict weaning and survival outcomes in patients on prolonged mechanical ventilation after critical illness[J]?JIntensive Care Med,2018,33:104-110.
[2]Quinnell TG,Pilsworth S,Shneerson JM,Smith IE.Prolonged invasive ventilation following acute ventilatory failure in COPD:weaning results,survival,and the role of noninvasive ventilation[J].Chest,2006,129:133-139.
[3]Chakrapani A,Vellodi A,Robinson P,Jones S,Wraith JE.Treatment of infantile Pompe disease with alglucosidase alpha:the UK experience[J].J Inherit Metab Dis,2010,33:747-750.
[4]Llerena Junior JC,Nascimento OJ,Oliveira AS,Dourado Junior ME,Marrone CD,Siqueira HH,Sobreira CF,Dias-Tosta E,Werneck LC.Guidelines for the diagnosis,treatment and clinical monitoring of patients with juvenile and adult Pompe disease[J].Arq Neuropsiquiatr,2016,74:166-176.
[5]Chien YH,Hwu WL,Lee NC.Pompe disease:early diagnosis and early treatment make a difference[J].Pediatr Neonatol,2013,54:219-227.
[6]Chien YH,Lee NC,Chen CA,Tsai FJ,Tsai WH,Shieh JY,Huang HJ,Hsu WC,Tsai TH,Hwu WL.Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth[J].J Pediatr,2015,166:985-991.
[7]Boentert M,Prigent H,Várdi K,Jones HN,Mellies U,Simonds AK,Wenninger S,Barrot Cortés E,Confalonieri M.Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease[J].Int J Mol Sci,2016,17:E1735.
[8]Yeung J,Couper K,Ryan EG,Gates S,Hart N,Perkins GD.Non-invasive ventilation as a strategy for weaning from invasive mechanical ventilation:a systematic review and Bayesian metaanalysis[J].Intensive Care Med,2018,44:2192-2204.
[9]van der Beek NA,van Capelle CI,van der Velden-van Etten KI,Hop WC,van den Berg B,Reuser AJ,van Doorn PA,van der Ploeg AT,Stam H.Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease[J].Mol Genet Metab,2011,104(1/2):129-136.
[10]Broomfield A,Fletcher J,Davison J,Finnegan N,Fenton M,Chikermane A,Beesley C,Harvey K,Cullen E,Stewart C,Santra S,Vijay S,Champion M,Abulhoul L,Grunewald S,Chakrapani A,Cleary MA,Jones SA,Vellodi A.Response of33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy[J].J Inherit Metab Dis,2016,39:261-271.
[11]Damuth E,Mitchell JA,Bartock JL,Roberts BW,Trzeciak S.Long-term survival of critically ill patients treated with prolonged mechanical ventilation:a systematic review and metaanalysis[J].Lancet Respir Med,2015,3:544-553.
[12]Joanne M,Skye N,Tracy M.The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease:a systematic review[J].J Inherit Metab Dis,2019,42:57-65.
[13]Deroma L,Guerra M,Sechi A,Ciana G,Cisilino G,Dardis A,Bembi B.Enzyme replacement therapy in juvenile glycogenosis typeⅡ:a longitudinal study[J].Eur J Pediatr,2014,173:805-813.
[14]Falk DJ,Todd AG,Lee S,Soustek MS,ElMallah MK,Fuller DD,Notterpek L,Byrne BJ.Peripheral nerve and neuromuscular junction pathology in Pompe disease[J].Hum Mol Genet,2015,24:625-636.
[15]Boentert M,Dr?ger B,Glatz C,Young P.Sleep-disordered breathing and effects of noninvasive ventilation in patients with late-onset Pompe disease[J].J Clin Sleep Med,2016,12:1623-1632.
[16]Hooijman PE,Beishuizen A,de Waard MC,de Man FS,Vermeijden JW,Steenvoorde P,Bouwman RA,Lommen W,van Hees HW,Heunks LM,Dickhoff C,van der Peet DL,Girbes AR,Jasper JR,Malik FI,Stienen GJ,Hartemink KJ,Paul MA,Ottenheijm CA.Diaphragm fiber strength is reduced in critically ill patients and restored by a troponin activator[J].Am J Respir Crit Care Med,2014,189:863-865.
[17]Smith BK,Fuller DD,Martin AD,Lottenberg L,Islam S,Lawson LA,Onders RP,Byrne BJ.Diaphragm pacing as a rehabilitative tool for patients with Pompe disease who are ventilator-dependent:case series[J].Phys Ther,2016,96:696-703.
[18]Remiche G,Ronchi D,Magri F,Lamperti C,Bordoni A,Moggio M,Bresolin N,Comi GP.Extended phenotype description and new molecular findings in late onset glycogen storage disease typeⅡ:a northern Italy population study and review of the literature[J].J Neurol,2014,261:83-97.
[19]Jones HN,Crisp KD,Robey RR,Case LE,Kravitz RM,Kishnani PS.Respiratory muscle training(RMT)in late-onset Pompe disease(LOPD):effects of training and detraining[J].Mol Genet Metab,2016,117:120-128.
[20]Jones HN,Crisp KD,Moss T,Strollo K,Robey R,Sank J,Canfield M,Case LE,Mahler L,Kravitz RM,Kishnani PS.Effects of respiratory muscle training(RMT)in children with infantile-onset Pompe disease and respiratory muscle weakness[J].J Pediatr Rehabil Med,2014,7:255-265.
[21]Datta D,Foley R,Wu R,Grady J,Scalise P.Can creatinine height index predict weaning and survival outcomes in patients on prolonged mechanical ventilation after critical illness[J]?JIntensive Care Med,2018,33:104-110.