Avtor/Urednik		Paro-Panjan, D; Bratanič, B; Novosel-Sever, M
Naslov		Zgodnja klinična prepoznava otrok s prirojeno napako prenosve
Prevedeni naslov		A clinical approach to the recognition of inborn errors of metabolism in early childhood
Tip		članek
Vir		Slov Pediatr
Vol. in št.		Letnik 7, št. 4
Leto izdaje		2000
Obseg		str. 144-7
Jezik		slo
Abstrakt		Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved the prognosis for many of these conditions. This makes it essencial that the pediatrician be familiar with the clinical presentation of these disorders. A clinical approach to the recognition of inborn errors of metabolism in early childhood is presented, the indications for specific laboratory testa are discussed and and the guidelines for the stabilisation of critically ill infants are provided.
Izvleček		Z napredkom pri prepoznavi in zdravljenju prirojenih napak presnove (PNP) se je pomembno spremenila prognoza mnogih obolelih otrok, zato je nujno, da je pediater seznanjen s klinično sliko, s katero se te izrazijo. V prispevku je prikazan klinični pristop k prepoznavi PNP v obdobju novorojenčka, podane so smernice za izhodiščne laboratorijske preiskave in opisani ukrepi, ki so nujni pri obravnavi akutno bolnih otrok.
Deskriptorji		METABOLISM, INBORN ERRORS INFANT, NEWBORN CRITICAL ILLNESS ACIDOSIS HYPOGLYCEMIA JAUNDICE HEPATOMEGALY