MEDIX, God. 19 Br. 107/108  •  Pregledni članak  •  Gastroenterologija HR ENG

Gaucherova bolest – gastroenterološki pristupGaucher disease – gastroenterologic approach

Davor Štimac, Ivana Mikolašević

Gaucherova je bolest metabolički poremećaj koji je obilježen nakupljanjem masti (glukocerebrozida) u stanicama monocitno-makrofagnoga sustava. Incidencija se kreće od 1:40.000 do 1:50.000 stanovnika. Osnovni patofiziološki mehanizam je nedostatnost enzima glukocerebrozidaze koja hidrolizira glukozilceramid u glukozu i ceramid, što posljedično vodi nakupljanju glukozilceramida u lizosomima retikulo-endotelnoga sustava. Gaucherova bolest nasljeđuje se autosomno recesivno. Tradicionalno se dijeli u tri oblika, ovisno o zahvaćenosti središnjega živčanog sustava (neneuropatski tip I, te neuropatski tipovi II i III). Tip I je najčešći oblik ove bolesti i smatra se odgovornim za oko 94% slučajeva bolesti. Obilježen je hepatosplenomegalijom, promjenama u krvnoj slici, te zahvaćenošću koštano-zglobnog sustava. Vrijeme pojave bolesti varira od djetinjstva do odrasle dobi. Akutni neuropatski oblik ili tip II označuju teška oštećenja središnjega živčanog sustava, što uzrokuje ranu smrt. Incidencija je ovog oblika bolesti oko 1:150.000 novorođenčadi. Tip III Gaucherove bolesti češći je nego tip II, a uobičajeno se označuje kao kronični neuropatski oblik i obilježen je manje progresivnim tijekom, s blažim neurološkim poremećajima. Zlatni standard za potvrdu dijagnoze Gaucherove bolesti jest određivanje aktivnosti glukocerebrozidaze u perifernim leukocitima ili u kulturi kožnih fibroblasta. Za razliku od drugih genskih bolesti za liječenje Gaucherove bolesti postoji učinkovita terapija rekombiniranom imiglucerazom. Navedena je terapija učinkovita u bolesnika s tipom I bolesti i omogućuje ovim bolesnicima normalan život. Zbog toga je u svakog bolesnika s neobjašnjivom hepatosplenomegalijom i pancitopenijom nužno razmišljati i o ovoj, ne tako rijetkoj, bolesti. 

Ključne riječi:
Gaucherova bolest; hepatosplenomegalija; pancitopenija; rijetke bolesti

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Gaucher disease is a metabolic disorder characterized by the accumulation of fat (glucocerebrosidase) in cells of the monocyte-macrophage system. The incidence ranges from 1:40,000 to 1:50,000 of the population. The underlying patophysiological mechanism is a deficiency of the enzyme glucocerebrosidase. This enzyme hydrolyzes glucosylceramide to glucose and ceramide, which consequently leads to the accumulation of glucosylceramides in lysosomes of reticuloendothelial system. Gaucher disease is inherited as autosomal recessive. Traditionally it is devided into three types depending on the involvement of the central nervous system (non-neuropathic type I, and neuropathic types II and III). Type I is the most common form of the disease and is considered to be responsible for about 94% cases of the disease. It is characterized by hepatosplenomegaly, changes in the blood status, bones and joints. It can be manifested during childhood and adult age. Acute neuropathic form, or type II, is characterized by severe central nervous system damage leading to early death. The incidence of this form of the disease is about 1:150,000 newborns. Type III Gaucher disease is more common than type II, and is commonly referred to as a chronic neuropathic form, being less progressive with milder neurological disorders. The gold standard for confirming the diagnosis of Gaucher disease is the determination of glucocerebrosidase activity in peripheral leucocytes or in a culture of skin fibroblasts. Unlike other genetic diseases, there is an effective therapy with recombinant imiglucerase for the treatment of Gaucher disease. The therapy is effective in patients with type I, allowing these patients to lead a normal life. Therefore, in any patient with unexplained hepatosplenomegaly and pancytopenia one should always consider this not so rare disease. 

Key words:
Gaucher disease; hepatosplenomegaly; pancytopenia; rare diseases