Author/Editor     Benedik-Dolničar, Majda; Kitanovski, Lidija
Title     Obravnava bolnikov z Gaucherjevo boleznijo, tip 1
Translated title     The management of patients with Gaucher disease, type 1
Type     članek
Source     Zdrav Vestn
Vol. and No.     Letnik 72, št. 12
Publication year     2003
Volume     str. 701-4
Language     slo
Abstract     Background. Accumulation of glucocerebroside in spleen, liver, bone marrow and bones, but rarely in other organs, due to inborn deficiency of lysosomal enzyme glucocerebrosidase leads to Gaucher disease. The most common is type 1, chronic non-neuronopathic form of Gaucher disease. In type 1 the central nervous system is not affected and clinical presentations are variable. It could be a mild disease not necessitating therapy or a more severe one which sometimes results even in disability. In such cases the replacement enzyme therapy is reasonable and the dose should be adjusted to the severity of the illness. It improves the patient's condition and prevents the progression of the disease. Conclusions. This article emphasises the guidelines for the management of patients with Gaucher disease, type 1. Recommendations for diagnostic approach and follow up of the patients as well as groups of patients necessitating a replacement enzyme therapy at appropriate doses are defined and stated.
Summary     Izhodišča. Gaucherjeva bolezen je posledica prirojenega pomanjkanja encima glukocerebrozidaze v celičnih lizosomih, kar privede do patološkega kopičenja glukocerebrozida v vranici, jetrih, kostnem mozgu, kosteh in redkeje v drugih organih. Najpogostejša je nenevronopatska oblika ali tip 1, pri kateri osrednji živčni sistem ni prizadet in je klinična slika različno izražena. Lahko je zelo blaga in tedaj bolnik ne potrebuje zdravljenja. Pri bolj izraženi obliki bolezni, ki je včasih zelo huda in povezana z invalidnostjo, pa je opravičeno nadomestno encimsko zdravljenje v odmerku, ki ga prilagodimo izraženosti bolezni. Z njim izboljšamo stanje bolnika in preprečimo napredovanje bolezni in tako invalidnost bolnika. Zakjučki. S prispevkom želimo podati smernice za enotno obravnavo bolnikov z Gaucherjevo boleznijo, tip 1. Navedena so priporočila za diagnostično obravnavo in spremljanje bolnikov in opredeljene tiste skupine bolnikov, ki potrebujejo, glede na izraženost bolezni, ustrezno odmerjeno nadomestno encimsko zdravljenje.
Descriptors     GAUCHER'S DISEASE
GLUCOSYLCERAMIDASE
SALVAGE THERAPY
SLOVENIA