Cistiskās fibrozes jaundzimušo skrīninga rezultātu izvērtējums un vecāku psihoemocionālā stāvokļa novērtējums.
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Date
2022
Authors
Journal Title
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Publisher
Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Cistiskā fibroze (CF) ir autosomāli recesīvi pārmantota ģenētiska slimība, kuras prevalence Latvijā ir 0,104 uz 10000 jaundzimušo. Ņemot vērā to, ka Latvijā piedzimst vidēji 20 000 jaundzimušo gadā, teorētiski tie ir 6-8 jauni CF gadījumi katru gadu. Kopš 2019.gada 1.jūlija Latvijā CF ir iekļauta jaundzimušo skrīningā, tas ļauj agrīni atklāt diagnozi un savlaicīgi uzsākt terapiju. Dzīvildze šiem pacientiem ir aptuveni 40 gadi, ārstēšana ir simptomātiska, un nereti šiem pacientiem un to vecākiem, saslimšana izraisa psihoemocionālus traucējumus.Darba mērķi ir analizēt iegūtās imunoreaktīvā tripsinogēna (IRT) apstiprinošās vērtības, salīdzināt viltus pozitīvos un pozitīvos rezultātus, izvērtēt iespējamos cēloņus viltus pozitīvu rezultāta gadījumā. Izvērtēt skrīninga atbilstību algoritmam, veikt vecāku psihoemocionālā stāvokļa izvērtējamu.
Cystic fibrosis (CF) is an autosomal recessive genetic disease with a prevalence of 0.104 per 10,000 newborns in Latvia. Considering that in Latvia an average of 20,000 newborns are born per year, that theoretically are 6-8 new cases of CF every year. Since July 1, 2019, CF has been included in neonatal screening in Latvia, which allows for early detection of the diagnosis and timely initiation of treatment. The survival of these patients is about 40 years, the treatment is symptomatic, often in these patients and their parents, the disease causes psycho-emotional disorders. The goal of the work is to analyze the obtained confirmatory values of immunoreactive trypsinogen (IRT), to compare false positive and positive results, to evaluate possible causes in case of false positive result. Evaluate the compliance of screening with the algorithm, evaluate the psycho-emotional state of parents.
Cystic fibrosis (CF) is an autosomal recessive genetic disease with a prevalence of 0.104 per 10,000 newborns in Latvia. Considering that in Latvia an average of 20,000 newborns are born per year, that theoretically are 6-8 new cases of CF every year. Since July 1, 2019, CF has been included in neonatal screening in Latvia, which allows for early detection of the diagnosis and timely initiation of treatment. The survival of these patients is about 40 years, the treatment is symptomatic, often in these patients and their parents, the disease causes psycho-emotional disorders. The goal of the work is to analyze the obtained confirmatory values of immunoreactive trypsinogen (IRT), to compare false positive and positive results, to evaluate possible causes in case of false positive result. Evaluate the compliance of screening with the algorithm, evaluate the psycho-emotional state of parents.
Description
Pediatrija
Pediatrics
Veselības aprūpe
Health Care
Pediatrics
Veselības aprūpe
Health Care
Keywords
Cistiskā fibroze (CF), jaundzimušo skrīnings, viltus pozitīvi rezultāti, psihoemocionālais stāvoklis., Cystic fibrosis (CF), neonatal screening, false positive results, psycho-emotional state.