Avtor/Urednik		Dolinšek, Jernej; Puklavec, Evelin; Zagradišnik, Boris
Naslov		Genetske preiskave v pediatrični gastroenterologiji
Prevedeni naslov		Review of monogenic inherited epilepsies [!]
Tip		članek
Vir		In: Bolezni in simptomi otrok kot odraz slabega družinskega ravnotežja Genetika v pediatriji Zastrupitve pri otrocih : zbornik predavanj Maribor : Univerzitetni klinični center
Leto izdaje		2013
Obseg		str. 83-91
Jezik		slv
Abstrakt		Razvoj medicine v zadnjih desetletjih je verjetno najbolj zaznamoval napredek na področju genetike. Nove metode niso pripomogle le k odkritju povezav med spremembami v genetskem zapisu in bolezenskimi stanji, ampak so omogočile tudi boljše razumevanje patogeneze bolezni, v mnogih primerih pa celo omogočile usmerjeno zdravljenje. Na področju pediatrične gastroenterologije, ki je nedvomno eno izmed najbolj širokih področij v pediatriji, je ta razvoj več kot očiten. Vrsta bolezni in sindromov je danes natančno opredeljena z znanimi mutacijami ali pa je poznana korelacija med nastankom bolezni in specifičnim genetskim zapisom. V prispevku prikazujemo nekatere relativno pogoste bolezni prebavil z znanimi genetskimi spremembami. Podrobneje opredeljujemo celiakijo, Crohnovo bolezen, laktozno intoleranco in Gilbertov sindrom, pri katerih genetske preiskave rutinsko uporabljamo v diagnostičnem postopku. Čeprav so genetske preiskave vse bolj pomembne pri diagnosticiranju številnih bolezni, ostaja dobro poznavanje klinične slike in ostalih diagnostičnih metod, vključno z genetskimi, najpomembnješe orodje v rokah izkušenega klinika.Progress in the field of genetics has probably most significantly affected the development of medicine in recent decades. New methods have not only contributed to the discovery of associations between genetic changes and disease, but have also permitted a better understanding of the pathogenesis of diseases, and in many cases, also enabled disease- specific treatment. In paediatric gastroenterology, which is undoubtedly one of the broadest areas in paediatrics, this development is more than obvious. Many diseases and syndromes are now well defined with known mutations, or there is a known correlation between the onset of the disease and specific genes. This paper presents some of the most common gastrointestinal diseases in which genetic changes are known, focussing on coeliac disease, Crohns disease, lactose intolerance, and Gilbert syndrome, in which genetic tests are routinely used inthe diagnostic process. Although genetic testing is becoming increasingly important in the diagnostic work-up of many diseases, a good understanding of the clinical picture and diagnostic methods, including genetic tests, remain the most important tools in the hands of an experienced clinician.
Deskriptorji		Digestive System Diseases Prebavni sistem, bolezni Child Otrok Cytodiagnosis Citodiagnostika Diagnosis Diagnostika