The emerging phenotype of long-term survivors with infantile Pompe disease.
The emerging phenotype of long-term survivors with infantile Pompe disease.
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DOI：
10.1038/gim.2012.44
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发表时间：
2012-09
期刊：
影响因子：
--
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中科院分区：
文献类型：
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Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. Inclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years. Clinical outcome measures included invasive ventilator-free survival and parameters for cardiac, pulmonary, musculoskeletal, gross motor and ambulatory status; growth; speech, hearing, and swallowing; and gastrointestinal and nutritional status. Eleven of 17 patients met study criteria. All were cross-reactive immunologic material-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range: 5.4 to 12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux disease, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and four required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers. Long-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings.
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影响因子：
3.8
作者：
Barker, Piers C. A.;Pasquali, Sara K.;Darty, Stephen;Ing, Richard J.;Li, Jennifer S.;Kim, Raymond J.;DeArmey, Stephanie;Kishnani, Priya S.;Campbell, Michael J.
通讯作者：
Campbell, Michael J.
DOI：
10.1097/01.gim.0000218152.87434.f3
发表时间：
2006-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Kishnani PS;Steiner RD;Bali D;Berger K;Byrne BJ;Case LE;Crowley JF;Downs S;Howell RR;Kravitz RM;Mackey J;Marsden D;Martins AM;Millington DS;Nicolino M;O'Grady G;Patterson MC;Rapoport DM;Slonim A;Spencer CT;Tifft CJ;Watson MS
通讯作者：
Watson MS
DOI：
10.1097/gim.0b013e318183722f
发表时间：
2008-10
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
McDowell R;Li JS;Benjamin DK Jr;Morgan C;Becker A;Kishnani PS;Kanter RJ
通讯作者：
Kanter RJ
影响因子：
0.2
作者：
Muller, Carolyn W.;Jones, Harrison N.;Kishnani, Priya S.
通讯作者：
Kishnani, Priya S.
影响因子：
3.9
作者：
Hermans, MMP;van Leenen, D;Reuser, AJJ
通讯作者：
Reuser, AJJ