Characterization of three new
Alpha-1 antitrypsin deficiency
Chronic obstructive pulmonary disease
Emphysema
SERPINA1
Journal
Respiratory medicine case reports
ISSN: 2213-0071
Titre abrégé: Respir Med Case Rep
Pays: England
ID NLM: 101604463
Informations de publication
Date de publication:
2023
2023
Historique:
received:
02
02
2023
revised:
09
03
2023
accepted:
11
03
2023
medline:
7
4
2023
entrez:
6
4
2023
pubmed:
7
4
2023
Statut:
epublish
Résumé
The clinical and molecular characteristics of three patients with previously unreported Case 1: A 73-year-old male with bilateral centri-to panlobular emphysema and multiple increasing ventrobasal bullae and incomplete fissures, COPD (Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade III B), progressive dyspnea on exertion (DOE), AAT level of 0.1-0.2 g/L. Genetic testing revealed a unique Each of these patients had a unique and previously unreported
Sections du résumé
Background
UNASSIGNED
The clinical and molecular characteristics of three patients with previously unreported
Case presentations
UNASSIGNED
Case 1: A 73-year-old male with bilateral centri-to panlobular emphysema and multiple increasing ventrobasal bullae and incomplete fissures, COPD (Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade III B), progressive dyspnea on exertion (DOE), AAT level of 0.1-0.2 g/L. Genetic testing revealed a unique
Conclusions
UNASSIGNED
Each of these patients had a unique and previously unreported
Identifiants
pubmed: 37021142
doi: 10.1016/j.rmcr.2023.101838
pii: S2213-0071(23)00033-3
pmc: PMC10068255
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101838Informations de copyright
© 2023 The Authors.
Déclaration de conflit d'intérêts
PH, MV, TG, EL, JB, KS, KB, MAP, JCS and FH have no conflicts of interest. FCT reported personal fees from GlaxoSmithKline, Novartis and CSL Behring, outside the submitted work.
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