Retrospektivní diagnostika nepoznaných příčin náhlého úmrtí kojence
Retrospective diagnosis of unknown cause of sudden infant death
dizertační práce (OBHÁJENO)
Zobrazit/ otevřít
Trvalý odkaz
http://hdl.handle.net/20.500.11956/19248Identifikátory
SIS: 13463
Kolekce
- Kvalifikační práce [3162]
Autor
Vedoucí práce
Konzultant práce
Votava, Felix
Oponent práce
Janda, Jan
Plavka, Richard
Vízek, Martin
Fakulta / součást
3. lékařská fakulta
Obor
-
Katedra / ústav / klinika
Klinika dětí a dorostu 3. LF UK a FNKV
Datum obhajoby
20. 11. 2008
Nakladatel
Univerzita Karlova, 3. lékařská fakultaJazyk
Čeština
Známka
Prospěl/a
Background: Sudden infant death syndrome (SIDS) is defined as sudden unexpected death of an infant that remains unexplained after thorough post-mortem examination, investigation of the scene of death and case history. The autopsy findings and the physiological characteristics of these infants suggest a possible role of insufficient cardiorespiratory control and arousal mechanisms. The etiology is probably multifactorial based on a genetic predisposition combined with environmental factors. Several candidate genes have been studied, e.g. those involved in serotonin transport, autonomic nervous system embryology, inflammation, energy production, nicotine and glucose metabolism. A small number of cases may be caused by monogenic diseases that can lead to sudden death and leave no characteristic autopsy findings and thus imitate SIDS. Fatty acid beta-oxidation disorders (FAOD) have been associated with SIDS since 1976 and it is nowadays estimated that they may be responsible for about 1% of SIDS cases. Congenital long QT syndrome, a cardiac channelopathy, that may cause a fatal arrhythmia was a logical candidate for SIDS and indeed it was found out that about 9,5% of SIDS cases carry a mutation or a function changing variant in one of seven cardiac ion channel genes. We assumed that the severe salt...