Tip 2 Gaucher hastalığı olan bir sütçocuğu
Gaucher hastalığı otozomal resesif geçişli, lizozomal beta-glikoserebrozidaz enzim eksikliğine bağlı bir hastalıktır. Hücre içinde giderek artan miktarlarda glikoserebrozid birikimi multisistem hastalığına yol açar. Üç klinik tipi tanımlanmıştır: tip l, non-nöronopatik tip; tip 2, akut nöronopatik tip ve tip 3, subakut nöronopatik tiptir. Tip 2 Gaucher hastalığı en nadir rastlanan tip olup, ilerleyici ve ölümcüldür. Bu yazıda, tip 2 Gaucher hastalığı tanısı almış bir sütçocuğu ender görülmesi nedeniyle sunulmuş ve ilerleyici nörolojik yıkım ve hepatosplenomegali belirti ve bulguları ile gelen sütçocuklarının ayırıcı tanısında tip 2 Gaucher hastalığının da düşünülmesi gerektiğinin vurgulanması amaçlanmıştır.
An infant diagnosed with type 2 Gaucher disease
Gaucher disease is an autosomal recessive disorder due to deficiency of the lysosomal enzyme beta-glucocerebrosidase. Increasing storage of glucocerebrosides leads to a multisystem disease. Three clinical types are recognized: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2 Gaucher disease is very uncommon and has a progressive and fatal course. Here we report an infant diagnosed with type 2 Gaucher disease because of its rarity, and aim to emphasize that this type of Gaucher disease should be included in the differential diagnosis of infants who presented with progressive neurologic deterioration and hepatosplenomegaly.
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- 1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited disease, seventh edition. New York: McGraw-Hill Inc, 1995;2641-2671.
- 2. Erikson A, Bembi B, Schiffmann R. Neuronopathic forms of Gaucher's disease. Baillieres Clin Haematol 1997;10:711-723.
- 3. Swaiman KR Lysosomal disease. In: Swaiman KF, Smith SA (eds). Pediatric Neurology, third edition. St. Louis: Mosby Inc, 1999;452-454.
- 4. Niederau C, Rolfs A, vom Dahi S, et al. Diagnosis and therapy of Gaucher disease. Current recommendations of German therapy in the year 2000. Med Klin 2001;96:32-39.
- 5. Stone DL, Tayebi N, Orvisky E, et al. Glucu- serebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 2000; 15:181-188.
- 6. Tayebi N, Reissner KJ, Lau EK, et al. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. Pediatr Res 1998;43:571-578.
- 7. Morales LE. Gaucher's disease: a review. Ann Pharmacother 1996;30:381-388.
- 8. Altarescu G, Hill S, Wiggs E, et al. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 2001;138: 539-547.
- 9. Grabowski GA, Leslie N, Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev 1998;12:115-133.
- 10. Bove KE, Daugherty C, Grabowski GA. Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 1995;26:1040-1045.