Solunum Sıkıntısı ile Başvuran Gaucher Hastası

Yıl 2016, , 25 - 28, 01.02.2016

Nafiye Urgancı Gülperi Yağar Keskin

https://doi.org/10.5222/j.child.2016.025

Öz

Gaucher hastalığı, retiküloendotelyal sistem RES hücre- leri içinde glukozilseramit birikiminin neden olduğu, lizozomal glukoserobrosidaz enzim eksikliğine bağlı oto- zomal resesif geçişli bir depo hastalığıdır. Monosit ve makrofaj lizozomlarında biriken glukoserebrosid birçok organı, sıklıkla da kemik iliği, lenf bezleri, karaciğer ve dalağı infiltre eder ve multisistemik bulgulara yol açar. Gaucher hastalığının nörolojik tutulum olup olmaması ve nörolojik hastalığa ilerleme durumuna göre 3 alt tipi bulunmaktadır. Tip 1 erişkin formu olup, nörolojik tutu- lum görülmez. Tip 2 infantil veya akut nöronopatik tip, Tip 3 juvenil subakut nöronopatik tipidir. Enzim ve gen teda- vilerindeki ilerlemeler ile küratif tedavisi gündeme gelen, ender bir genetik bozukluk olan Gaucher hastalığı, klini- ğimizde saptanan bu vaka ile birlikte yeniden gözden geçirilmiştir

Anahtar Kelimeler

Gaucher hastalığı, hepatosplenomegali, enzim tedavisi

Patient with Gaucher Disease Presenting with Respiratory Distres

Öz

Gaucher disease is an autosomal recessive , lysosomal sto- rage disease, characterized by glycosylcerebroside depositi- on in reticulo-endothelial system cells, due to deficiency of lysosomal glucocerebrosidase. Glucocerebroside accumula- ted in lysosomes of monocytes and macrophages frequently infiltrates many organs such as the bone marrow, lymph nodes, liver and spleen and causes multisystemic symptoms. In Gaucher disease, according to neurological involvement and the progression of neurological disease there are 3 subt- ypes. Type 1 adult form where there is no neurological invol- vement, Type 2, infantile or acute neuropathic and Type 3, subacute juvenile neuropathic type. Curative treatment of rarely seen Gaucher disease has been revived with advance- ments in enzyme and gene therapy, and it has been reviewed together with this case detected in our clinic

Anahtar Kelimeler

Gaucher disease, hepatosplenomegaly, enzyme replacement

Kaynakça

• Grabowski Ga, Petsko Ga, Kolodny eH. In The Online Metabolic and Molecular Bases of Inherited Disease (wwwomm-bidcom) New York: McGraw-Hill; 2006. Gaucher disease (revised July 2010).
• Whitfield PD, Nelson P, Sharp Pc, et al. Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity. Mol Genet Metab 2002;75(1):46-55 https://doi.org/10.1006/mgme.2001.3269
• elstein D, abrahamov a, Hadas-Halpern, et al. Gaucher’s disease. Lancet 2001;358(9278):324-7. https://doi.org/10.1016/S0140-6736(01)05490-3
• Mikosch P, Hughes D. An overview on bone manifes- tations in Gaucher disease. Wien Med Wochenschr 2010;160(23-24):609-24. https://doi.org/10.1007/s10354-010-0841-y
• Fredrickson, DS; Sloan, Hr. Glycosylceremide lipi- doses: Gaucher’s disease. In: Stanbury, JB; Wyngaarden, JB; Fredrickson, DS, editors. The metabolic basis of inherited disease. McGraw-Hill; New York: 1972.
• Masi L, Brandi ML. Gaucher disease: the role of the specialist on metabolic bone diseases. Clin Cases Miner Bone Metab 2015;12(2):165-9.
• Miller JD, Mccluer r, Kanfer JN. Gaucher’s disea- se: neurologic disorder in adult siblings. Ann Intern Med 1973;78:883-7.
• https://doi.org/10.7326/0003-4819-78-6-883
• Beutler e, Saven a. Misuse of marrow examination in the diagnosis of Gaucher disease. Blood 1990;76(3): 646-8.
• evin M, Pleskova ı, Pastores GM. Gaucher disease: Genetics, diagnosis and management. Drugs Today (Barc) 2001;37(4):257-64. https://doi.org/10.1358/dot.2001.37.4.620591
• Okuyama T. Gaucher disease. Brain Nerve 2015; 67(9):1109-13.