Late-onset pompe disease with left-sided bronchomalacia

Respiratory Care

Volumn 60, Issue 2, 2015, Pages e26-e29

  Yang, Chia Feng ^a   Niu, Dau Ming ^a,b   Jeng, Mei Jy ^a   Lee, Yu Sheng ^a   Taso, Pei Chen ^a   Soong, Wen Jue ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Bronchial stent; Bronchomalacia; Flexible bronchoscopy; Late onset Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE;

ADOLESCENT; ARTICLE; BRONCHOMALACIA; BRONCHOSCOPY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DYSPNEA; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HEART PALPITATION; HUMAN; LEFT SIDED BRONCHOMALACIA; LUNG FUNCTION; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; POLYSOMNOGRAPHY; POSITIVE END EXPIRATORY PRESSURE; PULMONARY HYPERTENSION; PULMONARY VALVE INSUFFICIENCY; RESPIRATORY DISTRESS; SCOLIOSIS; SLEEP DISORDER; SLEEP DISORDERED BREATHING; THORAX PAIN; TRACHEOBRONCHOMALACIA; TREADMILL EXERCISE; COMPLICATION; GLYCOGEN STORAGE DISEASE TYPE II; SLEEP APNEA, OBSTRUCTIVE; STENT;

ADOLESCENT; BRONCHOMALACIA; BRONCHOSCOPY; CONTINUOUS POSITIVE AIRWAY PRESSURE; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; SLEEP APNEA, OBSTRUCTIVE; STENTS;

EID: 84973427700     PISSN: 00201324     EISSN: 19433654     Source Type: Journal    
DOI: 10.4187/respcare.03419     Document Type: Article

References (9)

1. Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med 2009;103(4):477-484
2. Pompe JC. [Concerning idiopathic hypertrophy of the heart]. Ned Tijdschr Geneeskd 1932;76:304-311. Article in Dutch.
3. van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112(2):332-340
4. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148(5):671-676
5. Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007;17(9-10):698-706
6. Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008;38(4):1236-1245
7. Chien YH, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr 2011;158(6):1023.e1-1027.e1
8. Chien YH, Lee NC, Huang PH, Lee WT, Thurberg BL, Hwu WL. Early pathologic changes and responses to treatment in patients with later-onset Pompe disease. Pediatr Neurol 2012;46(3):168-171
9. van der Beek NA, van Capelle CI, van der Velden-van Etten KI, Hop WC, van den Berg B, Reuser AJ, et al. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab 2011;104(1-2):129-136.