Sindrom kongenitalne centralne hipoventilacije -  heterogenost kliničke prezentacije, modaliteti ventilatorne potpore i ishodi

Mihail Basa; Jelena Visekruna; Bojana Gojsina Parezanovic; Tijana Grba; Marina Andjelkovic; Aleksandar Sovtic

doi:10.5937/medi56-46027

Mihail Basa +381 11 3108 158 https://orcid.org/0000-0002-1420-6072
Jelena Visekruna Mother https://orcid.org/0009-0009-8481-0556
Bojana Gojsina Parezanovic Department of Pulmonology, Mother and Child Health Care Institute of Serbia https://orcid.org/0000-0002-3740-5277
Tijana Grba de https://orcid.org/0000-0001-6293-3285
Marina Andjelkovic Institute of Molecular Genetics and Genetic Engineering, University of Belgrade https://orcid.org/0000-0002-4086-6197
Aleksandar Sovtic Department of Pulmonology, Mother and Child Health Care Institute of Serbia; Medical Faculty, University of Belgrade; https://orcid.org/0000-0002-2760-5582

DOI: https://doi.org/10.5937/medi56-46027

Ključne reči: centralna kongenitalna hipoventilacija, invazivna ventilacija, neinvazivna ventilacija, dekanulacija

Sažetak

Introduction/aim: Central congenital hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by autonomic dysregulation and alveolar hypoventilation with ventilatory support as the cornerstone of long-term survival. The aim was to present different ventilatory strategies in CCHS.

Material and methods: The study included retrospectively analyzed medical records of five patients diagnosed with CCHS in the national pediatric center. Alveolar hypoventilation was evidenced by noninvasive continuous transcutaneous capnometry and central sleep-disordered breathing documented by polygraphy. Clinical evaluation included cardiac evaluation, rectal biopsies, and urinalysis of catecholamine levels. Life-threatening cardiac arrhythmias were indications of pacemaker implantation. Genetic analyses of alanine residues in paired-like homeobox 2B gene (PHOX2B) confirmed the diagnosis.

Results: A range of pathogenic changes in the PHOX2B gene resulted in varying clinical outcomes. 3/4 (75%) of patients with early onset were ventilated continuously through a tracheostomy tube, while one was successfully treated with noninvasive ventilation (NIV) as the preferred option. Additionally, NIV was applied in one child with early-onset disease after the decannulation. Finally, NIV was also feasible in a case with late-onset disease presented by the time of four years with symptoms of pulmonary hypertension. Since there were no serious side effects of ventilation, one patient died due to cardiac arrhythmias.

Conclusion: Invasive mechanical ventilation remains the treatment of choice in most children with early-onset disease. However, the indications for NIV have been widened from overnight ventilation in the late-onset course to selected cases with early-onset disease. The timely switch from IMV to NIV has been popularized in recent years worldwide.