Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist.
Respir Med Res
; 76: 13-18, 2019 Nov.
Article
en En
| MEDLINE
| ID: mdl-31254945
ABSTRACT
Acid sphingomyelinase deficiency (ASMD), also called Niemann-Pick disease, is a storage disorder with pulmonary involvement but few respiratory symptoms in adults. However, the disease may evolve towards clinically relevant respiratory symptoms with referral to the pulmonologist for management and care. Based on two case reports illustrating respiratory impairment, the aim of this work was to review clinical features, diagnosis, respiratory prognostic and therapeutics for the pulmonologist. Overall, storage disorder should be suspected in the presence of hepatosplenomegaly and interstitial lung disease. Concomitant thrombopenia or hyperlipidemia should also draw attention. Following recent consensus guidelines, diagnosis is based on enzyme assay for ASM activity in blood, with subsequent gene sequencing once the biochemical diagnosis has been confirmed. Disease is slowly progressive and the main causes of death are respiratory and liver failure. Presence of emphysema lesions or worsening of respiratory symptoms should call for the intensification of treatment. Though enzyme replacement therapy is a promising way of development, lung transplantation might be considered for these patients in the absence of contraindication.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Insuficiencia Respiratoria
/
Enfermedades de Niemann-Pick
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Guideline
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Prognostic_studies
Límite:
Adult
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Respir Med Res
Año:
2019
Tipo del documento:
Article