Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.

Authors:
Sandra Lisboa
Sandra Lisboa
. Setor de Prova de Função Pulmonar
Juan Clinton Llerena
Juan Clinton Llerena
Centro de Genética Médica José Carlos Cabral de Almeida
Brazil

J Bras Pneumol 2017 Jan-Feb;43(1):54-59

. Centro de Genética Médica, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.

Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy.

Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values.

Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, -4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) .

Conclusions: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis.

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http://dx.doi.org/10.1590/S1806-37562015000000343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790676PMC
August 2017
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