Aspectos respiratórios da doença de Pompe: Relato de caso

Respiratory aspects of Pompe disease: Case report

 

Ewandro LR Moura 1

Thiago A Jabuonski 1

Veronica M Amado 2

 

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.

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.

Key-words: Glycogen storage disease type II, Pompe disease, myopathy, respiratory failure, ventilation, mechanical.

 

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Bibliografia

 

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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

Trabalho realizado no Hospital Universitário de Brasília.

Directora: Dra. Tânia Torres Rosa.

Endereço: SGAN 605, Av. L2 Norte Brasília-DF

 

Correspondência: Veronica M Amado

SQS-315 Bl-A Ap-201;

CEP: 70.384-010.

Brasília –DF

Email: veronicaamado@uol.com.br

 

Recebido para publicação/received for publication: 07.04.24

Aceite para publicação/accepted for publication: 07.09.12