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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype

Dan Dai1, Mei Mei1, Liyuan Hu2

  • 1Division of Pulmonary Medicine, Children's Hospital of Fudan University, Shanghai, China.

Archives of Disease in Childhood
|June 17, 2021
PubMed

Insights

Exome sequencing identified monogenic diseases in 14.4% of children with respiratory issues. Genetic diagnoses significantly altered management, especially for genetic lung diseases, aiding precision medicine.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Respiratory Medicine

Background:

  • Monogenic diseases often present with respiratory symptoms in children.
  • Accurate diagnosis is crucial for effective management and prognosis.

Purpose of the Study:

  • To determine the prevalence and clinical features of monogenic diseases in pediatric patients with respiratory phenotypes.
  • To evaluate the utility of exome sequencing in diagnosing these conditions.

Main Methods:

  • Exome sequencing was performed on 971 children with respiratory symptoms and suspected genetic causes.
  • Patients were categorized by age and affected biological systems.

Main Results:

  • 140 children (14.4%) received a molecular diagnosis.
  • Common manifestations included respiratory distress, failure, and recurrent infections.
  • Primary immunodeficiency, multisystem disorders, and genetic lung diseases were the most frequent causes.
  • Genetic diagnosis led to changes in medical management for 51.4% of patients, particularly those with genetic lung disease.

Conclusions:

  • Exome sequencing is effective for diagnosing monogenic respiratory diseases in children.
  • The genetic landscape of these diseases varies with age.
  • Genetic diagnoses offer vital information for clinical care and precision medicine approaches.
Abstract

Keywords:
epidemiologygeneticsinformation technologyneonatologytherapeutics

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