Comprehensive cardiopulmonary assessment in α mannosidosis
| Autor: | Ronen Bar-Yoseph, Anat Ilivitzki, Galit Tal, Guy Gut, Merav Zucker-Toledano, Michal Gur, Vered Nir, Moneera Hanna, Lea Bentur, Yazeed Toukan |
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| Rok vydání: | 2020 |
| Předmět: |
Pulmonary and Respiratory Medicine
Adult Male medicine.medical_specialty Adolescent Alpha-mannosidosis Air trapping Pulmonary function testing Young Adult Internal medicine medicine Lysosomal storage disease Humans Child Bone Marrow Transplantation business.industry Coarse facial features VO2 max medicine.disease Respiratory Function Tests Pediatrics Perinatology and Child Health alpha-Mannosidosis Cardiology Disease Progression Exercise Test Female medicine.symptom business Complication Tomography X-Ray Computed Rare disease |
| Zdroj: | Pediatric pulmonologyREFERENCES. 55(9) |
| ISSN: | 1099-0496 |
| Popis: | Introduction α Mannosidosis is an extremely rare, progressive, and complex lysosomal storage disease, characterized by mental retardation, hearing impairment, coarse facial features, skeletal abnormalities, and pulmonary involvement. While bone marrow transplantation has been the only therapeutic option to date, nowadays new treatment options are being explored, which may affect pulmonary and exercise capacity. Aim and methods To assess cardiopulmonary involvement in patients with α mannosidosis by pulmonary function tests, cardiopulmonary exercise testing, and low irradiation chest computed tomography (CT). Results Five patients aged 11 to 28 years were followed in our Respiratory-Metabolic Clinic. All five had pulmonary symptoms and received inhaled therapy. Three patients underwent bone marrow transplantation. Parenchymal lung disease was evident in 3/5 chest CT tests. Pulmonary function tests were abnormal in all patients and showed obstructive/restrictive impairment with air trapping. All five patients showed reduced peak oxygen uptake (median 23.1; range 20.4-32.2 mL/minute/kg, median %predicted 62; range %predicted 59-79). Conclusions Pulmonary involvement is a known complication in this rare disease. Comprehensive cardiopulmonary evaluation is feasible among these patients and may help in assessing disease progression and response to new treatment modalities. |
| Databáze: | OpenAIRE |
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