Title Kongenitalni centralni hipoventilacijski sindrom Title (english) Congenital central hypoventilation syndrome Author Darija Kovačević Mentor Irena Senečić-Čala (mentor)Committee member Boris Filipović-Grčić (predsjednik povjerenstva)Committee member Marija Jelušić (član povjerenstva)Committee member Irena Senečić-Čala (član povjerenstva)Granter University of Zagreb Defense date and country 2014-07-15, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Centralni kongenitalni hipoventilacijski sindrom je rijetka genetski uzrokovana bolest u kojoj je poremećena autonomna kontrola disanja, praćena alveolarnom hipoventilacijom koja se očituje nemogućnošću održavanja normalnih vrijednosti parcijalnog tlaka ugljikovog dioksida. Sindrom je posljedica mutacije gena PHOX2B koji se nasljeđuje autosomno dominantno. Gen kodira transkripcijski faktor koji ima važnu ulogu u regulaciji migracije stanica neuralnog grebena i razvoju autonomnog živčanog sustava. Sindrom se može prezentirati različito teškom kliničkom slikom, vrlo često s početkom simptoma u novorođenačkom razdoblju. Raspon simptoma je različit, ali svi uključuju akutnu ili kroničnu hipoventilaciju s hipoksijom i hiperkarbijom. U težim oblicima javlja se potpuni prestanak disanja u snu, uz težu hipoventilaciju u budnosti. Osim respiracijskih simptoma, mogu se javiti kardijalni poremećaji, poput poremećaja ritma, a 5% pacijenata s CCHS-om će imati tumore stanica neuralnog grebena. U 13-20% slučajeva se javlja Hirschsprungova bolest koja ima značajno težu kliničku sliku ako se javi u kombinaciji s CCHS-om.
Važnu ulogu u postavljanju dijagnoze ima i genetsko testiranje na mutacije PHOX2B gena, koje se nađu u 95% pacijenata, a za konačnu dijagnozu hipoventilacije je potrebno promatrati fiziologiju disanja za vrijeme budnosti, REM i non-REM spavanja, a to se postiže polisomnografijom. Hipoventilacija je potvrđena kada je pCO2 > 45 mmHg. U liječenju je bitno osigurati adekvatnu respiraciju uz kontinuirani monitoring. Postoje različiti oblici potpomognute ventilacije, koja treba spojiti najbolju tehnologiju
sa životnim stilom i mogućnostima roditelja. U Hrvatskoj su, za sada, otkrivena i genskom analizom potvrđena 3 bolesnika. Uvijek je potrebno razmišljati o mogućnosti postojanja ove bolesti, kako bi se ona što ranije prepoznala i adekvatno liječila te omogućila normalan rast i razvoj djeteta.
Abstract (english) Congenital central hypoventilation syndrome is a rare genetic disorder in which autonomic control of breathing is disturbed, resulting in hypoventilaton, which is manifested with inability to maintain normal values of the partial pressure of carbon
dioxide. The syndrome is the result of gene mutations PHOX2B which are inherited in autosomal dominant way. The gene encodes a transcription factor that plays an important role in the regulation of neural crest migration and development of the
autonomic nervous system. The syndrome can be presented differently, often with early symptoms in the newborn period. The range of symptoms is different, but they all include acute or chronic hypoventilation with hypoxia and hypercarbia. In severe forms, there is a complete cessation of breathing in sleep, with severe hypoventilation in wakefulness. In addition to respiratory symptoms, cardiac disorders such as arrhythmias may occur. 5% of patients with CCHS will have tumors of neural crest cells. In 13-20% of all patients Hirschsprung's disease occurs, which has significantly more severe clinical pressentation in combination with CCHS. Genetic testing to PHOX2B gene mutations has the important role in the diagnosis. Mutations are found in 95% of patients. For the final diagnosis of hypoventilation it is necessary to observe the
physiology of breathing during wakefulness, REM and non-REM sleep. This is accomplished by polysomnography. Hypoventilation is confirmed with the pCO2 > 45 mmHg. In the treatment, is essential to provide adequate ventilation, with continuous monitoring. There are different forms of assisted ventilation, which should connect the best technology with the lifestyle and possibilities of parents. In Croatia, for now, CCHS is discovered and confirmed by genetic analysis in three patients. It is always necessary to think about the possibility of this disease. With early diagnosis and treatment, patients can grow and develop normally.
Keywords
centralni kongenitalni hipoventilacijski sindrom
hipoventilacija
polisomnografija
hiperkarbija
Keywords (english)
central congenital hypoventilation syndrome
hypoventilation
polysomnography
hypercarbia
Language croatian URN:NBN urn:nbn:hr:105:634372 Study programme Title: Medicine Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2015-10-12 09:53:33
