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Andalusian researchers study the incidence of rare lung diseases in children

July 24, 2021
Andalusian researchers study the incidence of rare lung diseases in children

Professionals from the Clinical Bioinformatics Area of the Progress and Health Foundation have participated in a national multicentre study to determine the incidence and prevalence of paediatric interstitial pneumopathies, a specific group of rare diseases. This has been reported by the Regional Ministry of Health and Families of the Government of Andalusia.

Specifically, scientists Rosario Carmona and Virginia Aquino -from the Andalusian research group led by the director of the Bioinformatics Area, Joaquín Dopazo-, have analysed the information from the sequencing of gene panels of patients suffering from one of these diseases to characterise them and draw an epidemiological map.

The results of this study, led by a CIBERER research group at the Vall d’Hebron Research Institute in Barcelona, show that there is a higher prevalence and incidence of these diseases than previously described in other studies. “The fact that we have detected a higher incidence of these diseases is because we are increasingly detecting more and better the genetic alterations that occur in rare diseases, which has a direct impact on our ability to diagnose them better,” explains Dopazo. To carry out the research, samples were collected from 381 patients aged 18 years in 51 paediatric pulmonology units across the country during 2018 and 1019. The average incidence identified was 8.18 new cases per million each year, while the average prevalence was 46.53 cases per million children.

The results of the research and the methodology carried out have been published in the journal ‘Archives of Bronchopneumology’. Interstitial pneumopathies are heterogeneous lung diseases, classified as rare diseases, with relevant morbidity. Their diagnosis and classification are very complex and epidemiological data are scarce. They present diffuse inflammatory disorders of the lower airways caused by inflammation and fibrosis leading to respiratory distress that progresses to respiratory failure and mostly affects children.