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相似文献

1
A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation.一例表现为慢性肺泡通气不足的青少年型庞贝病病例。
J Korean Med Sci. 1993 Jun;8(3):221-4. doi: 10.3346/jkms.1993.8.3.221.
2
[Nightly home artificial respiration in juvenile Pompe's disease with pulmonary hypertension and right cardiac insufficiency].[青少年庞贝病合并肺动脉高压和右心功能不全的夜间家庭人工呼吸]
Dtsch Med Wochenschr. 1989 Jul 14;114(28-29):1114-6. doi: 10.1055/s-2008-1066727.
3
[Pulmonary hypertension due to glycogen storage disease type II (Pompe's disease): a case report].[Ⅱ型糖原贮积病（庞贝病）所致肺动脉高压：一例报告]
J Cardiol. 1989 Mar;19(1):323-32.
4
[Differential diagnosis in anorexia nervosa: glycogenosis II (the Pompe type)].神经性厌食症的鉴别诊断：糖原贮积症II型（庞贝氏型）
Dtsch Med Wochenschr. 1999 Aug 6;124(31-32):925-9. doi: 10.1055/s-2007-1024453.
5
[A retrospective study of six patients with late-onset Pompe disease].六例晚发型庞贝病患者的回顾性研究
Rev Neurol (Paris). 2008 Apr;164(4):336-42. doi: 10.1016/j.neurol.2007.09.008.
6
[Enzyme replacement therapy in Pompe's disease].[庞贝氏病的酶替代疗法]
Med Klin (Munich). 2007 Jul 15;102(7):570-3. doi: 10.1007/s00063-007-1070-z.
7
Anaesthesia for diagnostic muscle biopsy in an infant with Pompe's disease.庞贝病婴儿诊断性肌肉活检的麻醉
Can Anaesth Soc J. 1986 Nov;33(6):790-4. doi: 10.1007/BF03027132.
8
[Glycogen storage disease (Pompe's disease) presenting as myopathy in the adult (author's transl)].成人期表现为肌病的糖原贮积病（庞贝病）（作者译）
Dtsch Med Wochenschr. 1977 Oct 21;102(42):1512-4. doi: 10.1055/s-0028-1105529.
9
[Mechanical ventilation in neuromuscular diseases: do not start too early, but certainly not too late].
Ned Tijdschr Geneeskd. 2000 Jun 24;144(26):1249-52.
10
Acid maltase deficiency--Pompe's disease.酸性麦芽糖酶缺乏症——庞贝病。
J Pak Med Assoc. 2011 Aug;61(8):821-3.

引用本文的文献

1
Management of Pompe disease alongside and beyond ERT: a narrative review.庞贝病在酶替代疗法及其他方面的管理：一篇叙述性综述
Acta Myol. 2025 Mar;44(1):11-22. doi: 10.36185/2532-1900-1106.
2
Consensus treatment recommendations for late-onset Pompe disease.迟发性庞贝病的共识治疗建议。
Muscle Nerve. 2012 Mar;45(3):319-33. doi: 10.1002/mus.22329. Epub 2011 Dec 15.
3
Pompe disease diagnosis and management guideline.庞贝病诊断与管理指南。
Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3.

一例表现为慢性肺泡通气不足的青少年型庞贝病病例。

A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation.

作者信息

Kim D G, Jung K, Lee M K, Hyun I G, Lim H J, Song H G, Chi J G

机构信息

Department of Internal Medicine, Hallym University College of Medicine, Seoul, Korea.

出版信息

J Korean Med Sci. 1993 Jun;8(3):221-4. doi: 10.3346/jkms.1993.8.3.221.

DOI:10.3346/jkms.1993.8.3.221
PMID:8240754
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3053741/
Abstract

We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this admission, although she had a delayed puberty. Arterial blood gas analysis, pulmonary function test as well as physical findings were compatible with chronic alveolar hypoventilation syndrome. Since she had lower extremity muscle weakness and pseudomyotonic discharge on electromyography a muscle biopsy was done, which revealed glycogen storage disease. The patient was managed successfully with nasal intermittent positive pressure ventilation.

摘要

我们描述了一例青少年型庞贝病，其表现为因呼吸肌受累导致的原发性肺泡低通气。这名17岁女孩入院前一直无症状，尽管她青春期发育延迟。动脉血气分析、肺功能测试以及体格检查结果均与慢性肺泡低通气综合征相符。由于她存在下肢肌肉无力且肌电图显示有假性肌强直放电，遂进行了肌肉活检，结果显示为糖原贮积病。该患者通过鼻间歇正压通气成功得到治疗。