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Children
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Comprehensive Treatment and Multidisciplinary Management of Pediatric Chronic Lung Diseases
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Comprehensive Treatment and Multidisciplinary Management of Pediatric Chronic Lung Diseases

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Pulmonary and Sleep Medicine".

Deadline for manuscript submissions: 20 June 2026 | Viewed by 589

Special Issue Editors

Dr. Annalisa Allegorico

E-Mail Website
Guest Editor
Unit of Pediatric Pneumology and UTSIR, Santobono-Pausilipon Children's Hospital, 80129 Naples, Italy
Interests: pediatric pulmonology; pediatric chronic respiratory diseases; children with medical complexity; transition of care from pediatric to adult services; pulmonary function testing; long-term ventilation
Dr. Alessandro Onofri

E-Mail Website
Guest Editor
Pediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
Interests: pediatric pulmonology; children with medical complexity; long-term ventilation; pediatric sleep medicine; telemedicine
Dr. Maria Giovanna Paglietti

E-Mail Website
Guest Editor
Pediatric Pulmonology & Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
Interests: pediatric pulmonology; children with medical complexity; long-term ventilation; congenital central hypoventilation syndrome; ROHHAD syndrome; pediatric sleep medicine

Special Issue Information

Dear Colleagues,

Pediatric chronic lung diseases encompass a broad spectrum of conditions that require complex and coordinated care. Advances in molecular diagnostics, imaging, and personalized medicine have markedly improved prognosis and survival for affected children. As therapies become more effective and life expectancy increases, the clinical management of these patients grows increasingly complex. These patients often present with multiple comorbidities and functional limitations, making a multidisciplinary setting essential to address their diverse medical, nutritional, psychological, and rehabilitative needs. This Special Issue aims to highlight the importance of multidisciplinary and integrated approaches in the comprehensive management of pediatric chronic lung diseases, focusing on clinical research, innovative therapies, and transition pathways from pediatric to adult care.

Dr. Annalisa Allegorico
Dr. Alessandro Onofri
Dr. Maria Giovanna Paglietti
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric asthma
  • allergic respiratory diseases
  • chronic respiratory conditions
  • patients with high medical complexity
  • long-term ventilation
  • pediatric pulmonology
  • pediatric chronic respiratory diseases
  • children with medical complexity
  • transition of care from pediatric to adult services
  • pulmonary function testing

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

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8 pages, 878 KB  
Case Report
PHOX2B Tyr14Ter Mutation Might Be Associated with Sustained Diurnal Hypertension: Case Report and Review of the Literature
by Fabio Antonelli, Simona Sottili, Maria Giovanna Paglietti, Alessandro Onofri, Renato Cutrera, Martina Mazzoni, Alessandro Rossi, Pierluigi Vuilleumier and Annalisa Allegorico
Children 2026, 13(3), 425; https://doi.org/10.3390/children13030425 - 19 Mar 2026
Viewed by 294
Abstract
Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by an impaired ventilatory response to hypercapnia and hypoxia, particularly during sleep, and frequently associated with autonomic dysfunction. It is caused by pathogenic variants in the PHOX2B gene. Although CCHS is typically [...] Read more.
Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by an impaired ventilatory response to hypercapnia and hypoxia, particularly during sleep, and frequently associated with autonomic dysfunction. It is caused by pathogenic variants in the PHOX2B gene. Although CCHS is typically diagnosed in the neonatal period, milder forms may present later in infancy or childhood, often triggered by respiratory infections. Case presentation: We report the case of 16-month-old male diagnosed with CCHS following an episode of hypoxemic–hypercapnic respiratory failure during respiratory syncytial virus (RSV) infection. His medical history included neonatal respiratory distress requiring oxygen therapy and recurrent wheezing. At 15 months, he developed acute respiratory distress with severe hypercapnia (PaCO2 70 mmHg), requiring admission to the Pediatric Intensive Care Unit and invasive mechanical ventilation. Persistent sleep-related hypercapnia and hypoxemia prompted evaluation for central hypoventilation, confirmed by means of transcutaneous capnography and nocturnal pulse oximetry. Genetic testing revealed a de novo nonsense mutation in exon 1 of PHOX2B (p.Tyr14Ter). Brain magnetic resonance imaging showed diffuse white matter changes suggestive of gliosis. Further investigations identified early-onset systemic hypertension, requiring antihypertensive therapy. The patient was discharged on nocturnal non-invasive ventilation and enrolled in a neurodevelopmental rehabilitation program. Conclusions: This case highlights the phenotypic variability of CCHS and the importance of considering this diagnosis in children presenting with unexplained hypercapnia and sleep-related hypoxemia. It underscores the need for comprehensive autonomic evaluation, including blood pressure monitoring. The p.Tyr14Ter variant may allow partial protein function, potentially accounting for the relatively mild phenotype. Full article
(This article belongs to the Special Issue Comprehensive Treatment and Multidisciplinary Management of Pediatric Chronic Lung Diseases)
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