Selim AYDEMİR, Yücel ÜSTÜNDAĞ, Mehmet SERT, Hayriye SAYARLIOĞLU, Sibel YENİDÜNYA, Gamze NUMANOĞLU, Alper TANRIVERDİ

Gaucher hastalığı; iki olgu

Gaucher hastalığı beta glukoserobrozidaz genindeki mutasyon sonucunda gelişen, otozomal resesif kalıtımla geçen, lipit depo hastalığıdır. Mutasyon sonucunda enzim aktivitesindeki azalma sonucunda retikuloendotelial sistemde makrofajlarda glukoserobrozid birikimi olur. Nörolojik komponenti olup (tip 2 ve 3) olmamasına (tip 1) göre klinik üç subtipi vardır. Hastalar sıklıkla hepatosplenomegali, anemi, trombositopeni ve kemik ağrıları vardır. Biz birinde siroz gelişmiş iki tip 1 Gaucher hastasını sunduk.

Anahtar Kelimeler:

Gaucher hastalığı, siroz

Gaucher disease; two case

Gaucher's disease is an autosomal recessive glycolipid storage disorder caused by mutations in the beta glucocerebrosidase gene. This defect leads to reduced enzyme activity with accumulation of glucocerebroside in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher's disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component. Type I is the more common subtype. Common presenting features include hepatosplenomegaly, anemia, thrombocytopenia, and often bone pains. We present two cases with Gaucher disease type 1, one of whom also had cirrhosis.

Keywords:

Gaucher disease, cirrhosis,

PDF

___

Whitfield PD, Nelson P, Sharp PC, et al. Correlation among genoty- pe, phenotype, and biochemical markers in Gaucher disease: impli- cations for the prediction of disease severity. Mol Genet Metab 2002; 75(1): 46-55.
Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beau- det AL, Sly WS, Valle D, editors. The Metabolic and Molecular Ba- sis of Inherited Disease. New York: McGraw-Hill, 1995: 2641-70.
Elstein D, Abrahamov A, Hadas-Halpern, et al. Gaucher's disease. Lancet 2001; 358(9278): 324-7.
Weber JR, Ryan JC. Effects on the gut of systemic disease and other extraintestinal condition. In: Feldman M, Scharschmidt BF, Sleisen- ger MH, editors. Sleisenger and Fordtran's Gastrontestinal and Li- ver Disease: Pathophysiology/ Diagnosis/ Management. Philadelp- hia: W.B. Saunders Company, 1998: 411-38.
Alfonso P, Cenarro A, Perez-Calvo JI, et al. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identi- fication of 11 novel mutations. Blood Cells Mol Dis 2001; 27(5): 882-91.
Horowitz M, Wilder S, Horowitz Z, et al. The human glucocerebro- sidase gene and pseudogene: structure and evolution. Genomics 1989; 4(1): 87-96.
Levin M, Pleskova I, Pastores GM. Gaucher disease: Genetics, di- agnosis and management. Drugs Today (Barc ) 2001; 37(4): 257-64.
Bembi B, Ciana G, Mengel E, et al. Bone complications in children with Gaucher disease. Br J Radiol 2002; 75 Suppl 1: 37-44.
Wenstrup RJ, Roca-Espiau M, Weinreb NJ, et al. Skeletal aspects of Gaucher disease: a review. Br J Radiol 2002; 75 Suppl 1: 2-12.
Lebel E, Itzchaki M, Elstein D, et al. Skeletal manifestations in Ga- ucher disease: presentation and treatment. Isr Med Assoc J 1999; 1(4): 267-71.
Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher dise- ase. Am J Hum Genet 2000; 66(6): 1777-86.
Beutler E. Enzyme replacement therapy for Gaucher's disease. Ba- illieres Clin Haematol 1997; 10(4): 751-63.
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA 1996; 275(7): 548-53.
Marelli G, Carinelli S, Mariani A, et al. Sclerosing stromal tumor of the ovary. Report of eight cases and review of the literature. Eur J Obstet Gynecol Reprod Biol 1998; 76(1): 85-9.