Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia

Pediatr Allergy Immunol. 2020 May;31(4):405-417. doi: 10.1111/pai.13228. Epub 2020 Mar 6.

Abstract

Background: Congenital agammaglobulinemia is the first primary immunodeficiency disorder characterized by a defect in B lymphocyte development and subsequently decreased immunoglobulin levels. These patients are prone to suffer from recurrent infections mostly involving the respiratory tract. In this study, we aimed to describe in detail respiratory tract complications as the most prominent clinical feature among agammaglobulinemic patients.

Methods: A total number of 115 patients were included. Demographic, clinical, and genetic data were collected from the patients' medical records. Among the available patients, pulmonary function tests (PFTs) and/or high-resolution computed tomography (HRCT) were performed.

Results: Respiratory tract complications (85.2%) especially pneumonia (62.6%) were the most prominent clinical features in our cohort. Among patients with abnormal PFT results (N = 19), a mixed respiratory pattern was observed in 36.8%. HRCT was carried out in 29 patients; Bhalla scoring-based evaluation of these patients indicated excellent (44.8%), followed by good (34.5%) and mild (20.7%) results. Bronchiectasis was found in 13 patients undergoing HRCT (44.8%). We found significant inverse correlations between the Bhalla score and incidence rate of pneumonia, as well as the presence of bronchiectasis. Patients with abnormal PFT results had statistically significant higher bronchiectasis frequency and lower Bhalla scores compared to those with normal results. Forty-one patients were deceased, and here, respiratory failure was the most common cause of death (45.5%).

Conclusion: High prevalence of respiratory tract infections among agammaglobulinemic patients and subsequent progression to permanent lung damage highlights the importance of implementing respiratory evaluation as part of routine follow-up program of agammaglobulinemic patients. Physicians should be aware of this and regularly monitor the respiratory function of these patients to allow for timely diagnosis and treatment initiation aiming to improve patients' prognosis and quality of life.

Keywords: Bhalla scoring; agammaglobulinemia; high-resolution computed tomography; primary immunodeficiency; pulmonary function test; respiratory tract complications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Agammaglobulinemia / complications
  • Agammaglobulinemia / epidemiology*
  • Bronchiectasis / epidemiology
  • Bronchiectasis / etiology
  • Female
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / epidemiology*
  • Humans
  • Lung / diagnostic imaging
  • Lung / physiopathology
  • Male
  • Pneumonia / epidemiology
  • Pneumonia / etiology
  • Prevalence
  • Quality of Life
  • Respiratory Function Tests
  • Respiratory Tract Infections / diagnosis
  • Respiratory Tract Infections / epidemiology*
  • Respiratory Tract Infections / etiology
  • Retrospective Studies
  • Surveys and Questionnaires
  • Tomography, X-Ray Computed
  • Young Adult

Supplementary concepts

  • Agammaglobulinemia, non-Bruton type
  • Bruton type agammaglobulinemia