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Vol. 14. Issue 1.
Pages 159-164 (January - February 2008)
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Vol. 14. Issue 1.
Pages 159-164 (January - February 2008)
Caso Clínico/Clinical Case
Open Access
Aspectos respiratórios da doença de Pompe: Relato de caso
Respiratory aspects of Pompe disease: Case report
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Ewandro L.R. Moura1, Thiago A. Jabuonski1, Veronica M. Amado2,
Corresponding author
veronicaamado@uol.com.br

Correspondência: Veronica M Amado, SQS-315 Bl-A Ap-201; CEP: 70.384-010. Brasília –DF.
1 Alunos do curso de graduação em Medicina da Faculdade de Medicina, Universidade de Brasília, Brasília-DF
2 Professor Adjunto do Departamento de Clínica Médica, Faculdade de Medicina, Universidade de Brasília – UnB, Brasília-DF
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Resumo

Relatamos o caso de doente feminina, 38 anos, com diagnóstico de doença de Pompe há oito anos. Há cinco anos vinha com queixas respiratórias, evoluindo com insuficiência respiratória crónica. Em uso de CPAP (continuous positive airway pressure) nocturno há um ano, apresentava agravamento clínico progressivo. Veio encaminhada ao Hospital Universitário de Brasília, com descompensação respiratória e cor pulmonale. Iniciou-se ventilação não invasiva com dois níveis de pressões (VNI) e realizou-se polissonografia, que demonstrou a necessidade do ajuste de frequência respiratória associada aos ajustes das pressões para adequação da ventilação durante o sono. Evoluiu com melhora importante após uso da VNI.

Rev Port Pneumol 2008; XIV (1): 159-164

Palavras-chave:
Doença de depósito de glicogénio tipo II
doença de Pompe
miopatia
insuficiência respiratória
ventilação mecânica
Abstract

We report the case of a 38 years-old female patient with Pompe disease, diagnosed eight years ago. Respiratory complaints appeared five years ago progressing to chronic respiratory failure. Nocturnal CPAP (continuous positive airway pressure) was prescribed last year, presenting progressive clinical worsening. She was referred to Hospital Universitário de Brasília, on account of respiratory failure and cor pulmonale. Thus, she began non-invasive ventilation (NIV) with bi-level positive airways pressure, and a polysomnography showed the need of spontaneous/timed mode associated with adjustments in breathing pressures to improve ventilation during sleep. There was significant clinical improvement after NIV support was established.

Rev Port Pneumol 2008; XIV (1): 159-164

Key-words:
Glycogen storage disease type II
Pompe disease
myopathy
respiratory failure
ventilation
mechanical
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Copyright © 2008. Sociedade Portuguesa de Pneumologia/SPP
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