Portal hipertansiyon ve retinitis pigmentoza ile birliktelik gösteren Gaucher hastaliği vakasi (olgu sunumu ve literatürün gözden geçirilmesi) Gaucher's disease associated with portal hypertension and retinitis pigmentosa; a case report and literature review

Gaucher hastal›g›; otozomal resessif kal›t›mla gecen, nadir gorulen ancak en s›k lizozomal lipid depo hastal›g›d›r. Lizozomal glukoserebrozidaz enzim eksikliginden kaynaklan›r ve substrat› olan beta-glukoserebrozidin vucuttaki tum retikulo-endoteliyal sistemde birikmesi ile karakterizedir. Norolojik bulgular›n varl›g› ve hastal›g›n seyrine gore 3 klinik alt grup tan›mlanm›st›r. Gaucher hastal›g›; tan›s› ac›klanamayan hepatosplenomegali, ve/veya kemik agr›s› olan her has- tada dusunulmelidir. Gaucher hucreleridir. Bu hastal›k esnas›nda nadiren hepatoseluler disfonksiyon veya portal hipertansiyon gelisebilecegi bildirilmistir. Bu yaz›da; nadir bir lipid depo hastal›g› olan, kemik ve akciger tutulumunun eslik ettigi ve seyrinde portal hiper- tansiyonun da gelistigi bir Gaucher vakas› sunulmustur. Anahtar sozcukler: Gaucher hastaligi, portal hipertansiyon. Gaucher's disease, although rare is the most commonly seen lysosomal storage disorder, with autosomal recessive inheritance. It is due to defi- ciency of lysosomal beta-glucocerebrosidase so that the substrate beta- glucocereb-roside accumulates in the reticulo-endothelial system. To date, three types have been defined. Gaucher's disease must be remem- bered in the setting of hepatosplenomegaly of unknown etiology and/or bone pain. During the course this disease, it was reported that hepato- cellular dysfunction or portal hypertension might develop. In this report, a patient with Gaucher's disease associated with liver and bone involve- ment is presented.