Yıl 2008,
Cilt: 21 Sayı: 2, 166 - 170, 24.06.2015
Öz
Gaucher hastalığı, retiküloendotelyal sistem hücreleri içinde glukozilseramid birikiminin neden olduğu, lizozomal gluko-serobrosidaz enzim eksikliğine bağlı otosomal resesif geçişli bir depo hastalığıdır. Enzim ve gen tedavilerindeki ilerlemeler ile küratif tedavisi gündeme gelen, ender bir genetik bozukluk olan Gaucher hastalığı, kliniğimizde saptanan bu olgu ile birlikte yeniden gözden geçirilmiştir.
Anahtar Kelimeler: Gaucher Hücreleri,Depo Hastalığı,Enzim Tedavisi
Anahtar Kelimeler
Kaynakça
- Athens WJ. Disorders involving the monocytemacrophage
- system-The ‘storage disease’.In:Lee
- GR,Bithell CT,Foerster J,Athens WJ,Lukens
- NJ,editors.Wintrobe’s Clinical Hematology 2 nd
- edition.Philadelphia:Lea&Febiger 1993:1628-1638
- Beutler E:Gaucher’s disease. Blood Rev 1988;2:59-70
- Brady RO,Jhonson WG,Uhlendorf BW.Identification of
- heterozygous carriers of lipid storage disease.Am J Med
- ;51:423-431
- Brady RO.Demonstration of adeficiency of
- glucocerebroside cleaving enzyme in Gaucher’ disease.J
- Clin Invest 1966;45:1112-1117
- Wenger D., Hug G, Rezvani I, et al. Disorders of
- mucopolysaccharide metabolism.In: Behrman RE,
- Vaughan VC., eds. Nelson Textbooks of Pediatrics,
- Philedelphia,WB-Saunders, 1992; 333-334
- Buist NRM,Kennaway NG.. Metabolic disorders.In:
- Arneil GC.ed. Textbook of Pediatrics, Edinburg,
- Churchill and Livingstone. 1984;1200-1287
- Ozkara HA, Topcu M. Sphingolipidoses in Turkey.
- Brain Dev. 2004 Sep;26(6): 363-366.
- Fredrickson DS, Sloan HR. Glucosyl ceramide
- lipidoses: Gaucher Disease. In: Stanbury JB,
- Wyngaarden JB, Fredrickson DJ, editors. The Metabolic
- Basis of Inherited Disease, 3rd edition .Newyork:
- McGraw-Hill, 1972: 730
- Berrebi A, Wishnitzer R, Von der Walde U. Gaucher
- Disease: Unexpected diagnosis in three patients over
- seventy years old. Nouv Rev Fr Hematol 1984:26:201-3
- Brinn L, Glabman S. Gaucher disease without
- splenomegaly: Oldest patient on record with review. NY
- State J Med 1962:62:2346-54
- Chang-Lo M, Yam LT.Gaucher’s disease: Review of the
- literatureand report of twelve new cases. Am J Med Sc
- :294:303
- Bowdler AJ. Splenomegaly and hypersplenism. Clin
- Haematol 1983:12:467-88
- Sales JE, Hunt AH. Gaucher’s disease and portal
- hypertension.Br J Surg 1970;57:225-28
- Zimran A, Kay A, Gelbart T, Garver P, Thurston D,
- Saven A, Beutler E, Gaucher disease : Clinical,
- laboratory radiologic and genetic features of 53 patients.
- Medicine (Baltimore) 1992:71:337-53
- Medoff AS, Bayrd ED. Gaucher’s disease in 29 cases:
- Hematologic complcations and effect of splenectomy.
- Am Intern Med 1954:40:481-92.
- James SP, Stomayer FW, Stovens DW, Barranger JA.
- Gaucher disease: Hepatic abnormalities in 25 patients.
- In. Desnick RJ, Gatt S, Grabowski GA,. editors.
- Gaucher disease. A century of delination and research.
- Newyork: Alan R. Liss. 1982:::131
- Lee RE.The pathology of Gaucher disease.In:Desnick
- RJ,Gatt S,Grabowsky GA.editors .Gaucher disease :A
- century of delineation and Research.New York:Alan R
- Liss,1882:..177
- Sales JE, Hunt AH .Gaucher’s disease and portal
- hypertension.Br J Surg 1970;57:225-28
- James SP, Stomayer FW, Chang C, et al..Liver
- abnormalities in patients with Gaucher ‘s disease.
- Gastroenterology 1981;80:126-133.
- Henderson JM,Gilinsky NH,Leo EV,et al.Gaucher’s
- disease complicated by bleeding eosphageal varices and
- colonic infiltration byGaucher cells.Am j Gastroenterol
- ;86:346-348
- Bell RS, Mankin J, Doppelt SH, Osteomyelitis in
- Gaucher disease. Am J Bone Joint Surg 1986;68-a:1380-
- -
- Goldblatt J,Sacks S,Beighton P.The Orthopedic aspects
- of Gaucher disease.Clin Orthop 1978;137:208-214.
- Goldblatt J, Beighton P. South African variants of
- Gaucher disease. In:Desinck RJ, Gatt S, Grabowsky GA,
- editors. Gaucher disease: Acentury of Delineation and
- Research.New York:Alan R.lis,1982: :95
- Beutler E, Saven A. Misuse of marrow examination in
- the diagnosis of Gaucher disease. Blood 1990 Aug
- ;76(3):646-648.
- Rosenthal DJ, Mayo-smith W, Goodsitt MM; et al.Bone
- and bone marrow changes in Gaucher disease.
- Radiology 1989 ;170:143-146
- Hsiaey E,Wolf B. Hereditary metabolic disorders.In:
- Avery GB, ed .Neonatology Pathophysology and
- Management of the Newborn, Philadelphia, Lipincoth
- Company, 1987; 724-751.
- Gery I, Zigler JS Jr; Brady RO, Barrener JA, Selective
- efects of glucocerebroside (Gaucher storage material) on
- macrophage cultures. J Clin Invest 1981;68:1182-9.
- Barton N W, Brady R O, Dambrosia J M., et al
- Replacement therapy for inherited enzyme deficiency--
- macrophage-targeted glucocerebrosidase for Gaucher's
- disease N Engl J Med 1991; 324:1464-1470.
- Beutler E.Gaucher disease.Blood Rev. 1988;2(1):59-70.
- Beutler E. The ‘storage disease’ in: Williams WJ,
- Beutler E, Erslev AJ, Lichtman MA, eds. Hematology:
- Edition, New York: Mc Graw Hill, 1991:1510-1513
- Rappaport JM, Ginns EI. Bone marrow transplantation
- in severe Gaucher’s disease. N Engl J Med 1984;311.84-
- -
- Whittington R, Goa AL, Alglucerase: A review of its
- therapeutic use in Gaucher’s disease.Drugs 1992;44:72-
- -
- Beutler E, Kay A, Saven A, et al. Enzyme replacement
- therapy for Gaucher’s disease.Blood 1991;78:1183-1189
- Zimran A, Elstein D, Kannai R.Low dose enzyme
- replacement therapy for Gaucher’s disease.Am J Med
- ;197:3-13
Yıl 2008,
Cilt: 21 Sayı: 2, 166 - 170, 24.06.2015
Öz
-
Anahtar Kelimeler
Kaynakça
- Athens WJ. Disorders involving the monocytemacrophage
- system-The ‘storage disease’.In:Lee
- GR,Bithell CT,Foerster J,Athens WJ,Lukens
- NJ,editors.Wintrobe’s Clinical Hematology 2 nd
- edition.Philadelphia:Lea&Febiger 1993:1628-1638
- Beutler E:Gaucher’s disease. Blood Rev 1988;2:59-70
- Brady RO,Jhonson WG,Uhlendorf BW.Identification of
- heterozygous carriers of lipid storage disease.Am J Med
- ;51:423-431
- Brady RO.Demonstration of adeficiency of
- glucocerebroside cleaving enzyme in Gaucher’ disease.J
- Clin Invest 1966;45:1112-1117
- Wenger D., Hug G, Rezvani I, et al. Disorders of
- mucopolysaccharide metabolism.In: Behrman RE,
- Vaughan VC., eds. Nelson Textbooks of Pediatrics,
- Philedelphia,WB-Saunders, 1992; 333-334
- Buist NRM,Kennaway NG.. Metabolic disorders.In:
- Arneil GC.ed. Textbook of Pediatrics, Edinburg,
- Churchill and Livingstone. 1984;1200-1287
- Ozkara HA, Topcu M. Sphingolipidoses in Turkey.
- Brain Dev. 2004 Sep;26(6): 363-366.
- Fredrickson DS, Sloan HR. Glucosyl ceramide
- lipidoses: Gaucher Disease. In: Stanbury JB,
- Wyngaarden JB, Fredrickson DJ, editors. The Metabolic
- Basis of Inherited Disease, 3rd edition .Newyork:
- McGraw-Hill, 1972: 730
- Berrebi A, Wishnitzer R, Von der Walde U. Gaucher
- Disease: Unexpected diagnosis in three patients over
- seventy years old. Nouv Rev Fr Hematol 1984:26:201-3
- Brinn L, Glabman S. Gaucher disease without
- splenomegaly: Oldest patient on record with review. NY
- State J Med 1962:62:2346-54
- Chang-Lo M, Yam LT.Gaucher’s disease: Review of the
- literatureand report of twelve new cases. Am J Med Sc
- :294:303
- Bowdler AJ. Splenomegaly and hypersplenism. Clin
- Haematol 1983:12:467-88
- Sales JE, Hunt AH. Gaucher’s disease and portal
- hypertension.Br J Surg 1970;57:225-28
- Zimran A, Kay A, Gelbart T, Garver P, Thurston D,
- Saven A, Beutler E, Gaucher disease : Clinical,
- laboratory radiologic and genetic features of 53 patients.
- Medicine (Baltimore) 1992:71:337-53
- Medoff AS, Bayrd ED. Gaucher’s disease in 29 cases:
- Hematologic complcations and effect of splenectomy.
- Am Intern Med 1954:40:481-92.
- James SP, Stomayer FW, Stovens DW, Barranger JA.
- Gaucher disease: Hepatic abnormalities in 25 patients.
- In. Desnick RJ, Gatt S, Grabowski GA,. editors.
- Gaucher disease. A century of delination and research.
- Newyork: Alan R. Liss. 1982:::131
- Lee RE.The pathology of Gaucher disease.In:Desnick
- RJ,Gatt S,Grabowsky GA.editors .Gaucher disease :A
- century of delineation and Research.New York:Alan R
- Liss,1882:..177
- Sales JE, Hunt AH .Gaucher’s disease and portal
- hypertension.Br J Surg 1970;57:225-28
- James SP, Stomayer FW, Chang C, et al..Liver
- abnormalities in patients with Gaucher ‘s disease.
- Gastroenterology 1981;80:126-133.
- Henderson JM,Gilinsky NH,Leo EV,et al.Gaucher’s
- disease complicated by bleeding eosphageal varices and
- colonic infiltration byGaucher cells.Am j Gastroenterol
- ;86:346-348
- Bell RS, Mankin J, Doppelt SH, Osteomyelitis in
- Gaucher disease. Am J Bone Joint Surg 1986;68-a:1380-
- -
- Goldblatt J,Sacks S,Beighton P.The Orthopedic aspects
- of Gaucher disease.Clin Orthop 1978;137:208-214.
- Goldblatt J, Beighton P. South African variants of
- Gaucher disease. In:Desinck RJ, Gatt S, Grabowsky GA,
- editors. Gaucher disease: Acentury of Delineation and
- Research.New York:Alan R.lis,1982: :95
- Beutler E, Saven A. Misuse of marrow examination in
- the diagnosis of Gaucher disease. Blood 1990 Aug
- ;76(3):646-648.
- Rosenthal DJ, Mayo-smith W, Goodsitt MM; et al.Bone
- and bone marrow changes in Gaucher disease.
- Radiology 1989 ;170:143-146
- Hsiaey E,Wolf B. Hereditary metabolic disorders.In:
- Avery GB, ed .Neonatology Pathophysology and
- Management of the Newborn, Philadelphia, Lipincoth
- Company, 1987; 724-751.
- Gery I, Zigler JS Jr; Brady RO, Barrener JA, Selective
- efects of glucocerebroside (Gaucher storage material) on
- macrophage cultures. J Clin Invest 1981;68:1182-9.
- Barton N W, Brady R O, Dambrosia J M., et al
- Replacement therapy for inherited enzyme deficiency--
- macrophage-targeted glucocerebrosidase for Gaucher's
- disease N Engl J Med 1991; 324:1464-1470.
- Beutler E.Gaucher disease.Blood Rev. 1988;2(1):59-70.
- Beutler E. The ‘storage disease’ in: Williams WJ,
- Beutler E, Erslev AJ, Lichtman MA, eds. Hematology:
- Edition, New York: Mc Graw Hill, 1991:1510-1513
- Rappaport JM, Ginns EI. Bone marrow transplantation
- in severe Gaucher’s disease. N Engl J Med 1984;311.84-
- -
- Whittington R, Goa AL, Alglucerase: A review of its
- therapeutic use in Gaucher’s disease.Drugs 1992;44:72-
- -
- Beutler E, Kay A, Saven A, et al. Enzyme replacement
- therapy for Gaucher’s disease.Blood 1991;78:1183-1189
- Zimran A, Elstein D, Kannai R.Low dose enzyme
- replacement therapy for Gaucher’s disease.Am J Med
- ;197:3-13
Toplam 105 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 24 Haziran 2015 |
| Yayımlandığı Sayı | Yıl 2008 Cilt: 21 Sayı: 2 |