Publication: Progressive Pulmonary Disease in X-Linked Agammaglobulinemia despite Regular Immunoglobulin Replacement: A Case Report
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Date
2024
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 44 - 47
Publisher
Perinatal Society of Nepal (PESON)
Abstract
Abstract:
X-linked agammaglobulinemia (XLA) is characterized by early-onset recurrent bacterial infections, particularly affecting the respiratory tract. We report a 12-year-old male with XLA who presented with chronic cough and recurrent respiratory infections. Genetic testing confirmed a BTK gene mutation. Radiological findings revealed diffuse cylindrical bronchiectasis with bilateral bronchial wall thickening, and pulmonary function tests showed a mixed severe ventilatory pattern. Despite regular immunoglobulin replacement therapy, the patient developed chronic lung disease, highlighting the need for early diagnosis and aggressive management of respiratory manifestations.
Description
Azzeddine Laaraje
Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, Morocco
Abdelhalim Boucaid
Department of Pulmonology and Allergology, Mohammed V Military Training Hospital, Mohammed V University, Rabat, Morocco
Abdelilah RadiI
Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, Morocco
Rachid Abilkassem
Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, Morocco
Keywords
X-Linked Agammaglobulinemia, Progressive Pulmonary Disease, Immunoglobulin Replacement
Identifier
https://doi.org/10.60086/jnps1266