Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist

Autor: Pascal Chanez, B. Puech, Martine Reynaud-Gaubert, Thibaut Capron, Y. Trigui, Clarisse Gautier
Přispěvatelé: Centre de compétences national maladies pulmonaires rares, CHU Nord, Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM), Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), University of Marseille, Marseille, France.
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Adult
Male
Pulmonary and Respiratory Medicine
medicine.medical_specialty
medicine.medical_treatment
Hepatosplenomegaly
Disease
03 medical and health sciences
0302 clinical medicine
[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases
030225 pediatrics
Internal medicine
medicine
Humans
Lung transplantation
Enzyme Replacement Therapy
[SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology
Respiratory system
Referral and Consultation
Contraindication
ComputingMilieux_MISCELLANEOUS
Niemann-Pick Diseases
[SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases
business.industry
Interstitial lung disease
Pulmonologist
Enzyme replacement therapy
Middle Aged
medicine.disease
[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology
3. Good health
Pulmonologists
030228 respiratory system
Practice Guidelines as Topic
[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology
medicine.symptom
Lung Diseases
Interstitial
Respiratory Insufficiency
business
Lung Transplantation
Zdroj: Respiratory Medicine and Research
Respiratory Medicine and Research, 2019, 76, pp.13-18. ⟨10.1016/j.resmer.2019.05.001⟩
Respiratory Medicine and Research, Elsevier, 2019, 76, pp.13-18. ⟨10.1016/j.resmer.2019.05.001⟩
ISSN: 2590-0412
DOI: 10.1016/j.resmer.2019.05.001⟩
Popis: 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.
Databáze: OpenAIRE
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