MEDIX, God. 25 Br. 139/140  •  Pregledni članak  •  Rijetke bolesti HR ENG

Fabryjeva bolest – važnost ranog otkrivanja i testiranje u dječjoj dobiFabry disease - the importance of early detection and testing in childhood

Ivo Barić

Fabryjeva bolest je X-vezana progresivna lizosomska bolest nakupljanja. Uzrokovana je mutacijama gena GLA pa smanjena aktivnost enzima α-galaktozidaze A dovodi do nakupljanja njegovih supstrata – glikosfingolipida u endotelu i mišićnim stanicama krvnih žila i tkivima raznih organa. Klinička je slika vrlo varijabilna i ovisi ponajviše o vrsti mutacije, dobi i spolu, a u žena i inaktivaciji X-kromosoma. U djece je obilježuju u različitim kombinacijama angiokeratomi, poremećaji znojenja, smanjen osjet topline i/ili hladnoće, promjene na očima (cornea verticillata, katarakta, promjene žila konjunktive i retine), gastrointestinalne tegobe koje su često prvi simptom, umor, akroparestezije i neuropatski bolovi u udovima (najčešći simptom u djece). Bolest je lječiva, ali ishod jako ovisi o uznapredovalosti bolesti u trenutku postavljanja dijagnoze. Zato specifične pretrage za otkrivanje bolesti treba učiniti što prije u djece koja imaju nerazjašnjene navedene simptome i znakove bolesti.

Ključne riječi:
dijagnoza; djeca; enzimsko nadomjesno liječenje; Fabryjeva bolest; molekule pratitelji

Članak u cijelosti pročitajte u tiskanom izdanju MEDIX, God. 25 Br. 139/140

Fabry disease is an X-linked progressive lysosomal disease, caused by mutations of the GLA gene and decreased activity of the α-galactosidase A enzyme, leading to accumulation of glycosphyngolipids in endothelium and muscle cells of blood vessels and various organ tissues. Clinical presentation is very variable, depending primarily on the mutation, age, gender, and in females on X-chromosome inactivation. In children, it is characterized in various combinations of angiokeratomas, sweating disorders, decreased heat and cold sensation, ocular changes (cornea verticillata, cataract, conjunctival and retinal vessels changes), gastrointestinal problems (often the first symptom), fatigue, acroparestesias and neuropathic pain in limbs (most common symptom in children). The disease is treatable, but the outcome is highly dependent on the phase of disease at the time of diagnosis. Therefore, specific screening for revealing the cause should be done as soon as possible in children with the unexplained, above mentioned symptoms and signs. 

Key words:
chaperons; children; diagnosis; enzyme replacement therapy; Fabry disease