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Vol. 43. Issue 10.
Pages 557-561 (January 2007)
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Vol. 43. Issue 10.
Pages 557-561 (January 2007)
Original Articles
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Pulmonary and Nonpulmonary Alterations in Duchenne Muscular Dystrophy
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María Rosa Güella,
Corresponding author
mguellr@santpau.es

Correspondence: Dra M.R. Güell. Departament de Pneumologia. Hospital de la Santa Creu i de Sant Pau. Sant Antoni M. Claret, 167. 08025 Barcelona. España
, Mónica Avendanob, Janet Fraserb, Roger Goldsteinb
a Departament de Pneumologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
b Respiratory Medicine, West Park Hospital, Toronto, Canada
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Objective

To describe our experience in managing patients with Duchenne muscular dystrophy.

PATIENTS AND METHODS

We analyzed the following variables in a group of 27 patients with Duchenne muscular dystrophy: arterial blood gases, lung function before and after mechanical ventilation, oxygen saturation (measured by pulse oximetry), nocturnal PaCO2 (measured transcutaneously by capnography), heart function, and dysphagia.

RESULTS

The mean (SD) age was 26 (6) years, and the mean age at which mechanical ventilation had been initiated in the 27 patients was 21 (5) years. Sixty-two percent had undergone tracheostomy and invasive mechanical ventilation. Arterial blood gas levels returned to normal once mechanical ventilation was administered and remained so for the entire treatment period (mean duration of follow- up, 56 [49] months). Thirteen patients had cardiac symptoms and they all presented abnormal electrocardiograms and echocardiograms indicating dilated cardiomyopathy, left ventricular dysfunction, and posterior hypokinesis. Only 9 patients were receiving enteral nutrition (7 through a gastrostomy tube and 2 through a nasogastric tube). The videofluoroscopic swallowing study confirmed that dysphagia was related to neuromuscular disease rather than the presence or not of a tracheostomy. Five patients (18%), 4 of whom were receiving invasive mechanical ventilation, died during the follow-up period. Three patients had serious heart disease.

CONCLUSIONS

Mechanical ventilation confers clinical benefits and prolongs life expectancy in patients with Duchenne muscular dystrophy. Heart disease and feeding difficulties are determining factors in the prognosis of these patients.

Key words:
Duchenne muscular dystrophy
Noninvasive mechanical ventilation
Cardiomyopathy
Dysphagia
Objetivo

Describir nuestra experiencia en el manejo de pacientes con distrofia muscular de Duchenne (DMD).

PACIENTES Y MÉTODOS

En 27 pacientes con DMD analizamos los gases arteriales y la función pulmonar antes y después de la ventilación mecánica (VM); la pulsioximetría (saturación de oxihemoglobina) y la capnografía (presión arterial de anhídrido carbónico por determinación transcutánea) nocturna; la función cardíaca y la evaluación de la disfagia.

RESULTADOS

Se incluyó en el estudio a 27 pacientes con una edad media ± desviación estándar de 26 ± 6 años, 24 de los cuales recibían VM, que se había iniciado cuando contaban 21 ± 5 años. El 62% eran portadores de traqueostomía y VM invasiva. Una vez iniciada la VM, se observó la normalización de los gases arteriales, que se mantuvo durante todo el tiempo de tratamiento (seguimiento medio: 56 ± 49 meses). Trece pacientes presentaban síntomas cardíacos y en todos ellos se observaban anormalidades en el electrocardiograma y ecocardiograma: miocardiopatía dilatada, disfunción ventricular izquierda o hipocinesia de la pared posterior. Sólo 7 pacientes llevaban una sonda de gastrostomía para alimentación y 2 una sonda nasogástrica. El estudio con videofluoroscopia permitió afirmar que los problemas de disfagia estaban relacionados con la enfermedad neuro- muscular y no con la presencia o no de traqueostomía. Durante el período de seguimiento, 5 pacientes fallecieron (18%), 4 de ellos con VM invasiva; 3 pacientes presentaban una enfermedad cardíaca grave.

CONCLUSIONES

La VM proporciona beneficios clínicos y prolonga la vida de los pacientes con DMD. Las alteraciones cardíacas y nutricionales son factores determinantes en el pronóstico de estos pacientes.

Palabras clave:
Distrofia muscular de Duchenne
Ventilación mecánica no invasiva
Miocardiopatía
Disfagia
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