Abstract
Gaucher disease is an autosomal ressesive, lysosomal storage disease, characterized by glycosylcerebroside deposition in reticulo-endothelial cells, due to deficiency of lysosomal glucocerebrosidase. Glucocerebroside accumulated 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 progress of neurological disease there are 3 sub-types. Type 1 adult form where there is no neurological involvement, Type 2 , infantile or acute neuropathic and Type 3, subacute juvenile neuropathic type. Enzyme and gene therapy are new curative therapies for Gaucher disease and due to it’s rarity, we present a case report and reviewed the diasease
References
- Ozkara HA, Topcu M. Sphingolipidoses in Turkey. Brain Dev 2004;26: 363-366.
- Patterson MC , Horowitz M , Abel RB, Currie JN, Yu KT, Kaneski C, et al.: Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher’s disease. Neurology 1993; 43: 1993-1997.
- Miller JD, McCluer R, Kanfer JN. Gaucher’s disease: neurologic disorder in adult siblings.Ann Intern Med 1973; 78: 883-887.
- Dreborg S, Erikson A, Hagberg B (1980) Gaucher disease-Norrbottnian type. I. General clinical description. Eur J, Pediatr 133:107-118
- Tibblin E, Dreborg S, Erikson A, Hakansson G, Svennerholm L. Hematological findings in the Norrbottnian type of Gaucher disease. Europ J Pediatr 1982; 139: 187-191.
- Erikson A, Wahlberg I. Gaucher disease--Norrbottnian type: ocular abnormalities. Acta Ophthal 1985; 63:221-225.
- Svennerholm L, Erikson A, Groth CG, Ringden O, Mansson JE. Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. Dev. Neurosci 1991; 345-351.
- Erikson A, Astrom M, Mansson JE. Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. Neuropediatrics 1995; 26: 203-207.
- Rice EO, Mifflin TE, Sakallah S, Lee RE, Sansieri CA, Barranger JA. Gaucher disease: studies of phenotype, molecular diagnosis and treatment. Clin Genet 1996; 49: 111-118.
- Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 2001; 24: 319-327.
- Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66: 1777-1786.
- Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK,et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res 2003; 53: 387-395.
- Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 1990;87: 1913-1916.
- Kaplan P, Mazur A, Manar O, Chorrow J, Esplin J, Gribble JT, et al. Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. J Pediatr 1996; 129: 149-153.
- Aksu T, Ezgü FS, Tümer L,Gündüz M, Hasanoğlu A. Okülomotor Apraksi ile Başvuran Tip 3 Gaucher Hastasında Yüksek Doz imiglucerase Tedavisinin Sonuçları. Türkiye Klinikleri (J Pediatr Sci ) 2005;1:12-14.
- Accordo A, Pensiero S, Ciana G, Parentin F, Bembi B. Eye movement impairment recovery in a Gaucher patient treated with miglustat. Neurol Res Int 2010; 358534. Epub Sep 26.
- Cox TM. Gaucher disease: clinical profile and therapeytic developments. Biologics 2010; 4: 299-313.
Abstract
Gaucher hastalığı, retiküloendotelyal sistem RES hücreleri içinde glukozilseramid birikiminin neden olduğu, lizozomal glukoserobrosidaz enzim eksikliğine bağlı otosomal 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 tutulum görülmez. Tip 2 infantil veya akut nöronopatik tip, Tip 3 juvenil subakut nöronopatik tipidir. 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
References
- Ozkara HA, Topcu M. Sphingolipidoses in Turkey. Brain Dev 2004;26: 363-366.
- Patterson MC , Horowitz M , Abel RB, Currie JN, Yu KT, Kaneski C, et al.: Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher’s disease. Neurology 1993; 43: 1993-1997.
- Miller JD, McCluer R, Kanfer JN. Gaucher’s disease: neurologic disorder in adult siblings.Ann Intern Med 1973; 78: 883-887.
- Dreborg S, Erikson A, Hagberg B (1980) Gaucher disease-Norrbottnian type. I. General clinical description. Eur J, Pediatr 133:107-118
- Tibblin E, Dreborg S, Erikson A, Hakansson G, Svennerholm L. Hematological findings in the Norrbottnian type of Gaucher disease. Europ J Pediatr 1982; 139: 187-191.
- Erikson A, Wahlberg I. Gaucher disease--Norrbottnian type: ocular abnormalities. Acta Ophthal 1985; 63:221-225.
- Svennerholm L, Erikson A, Groth CG, Ringden O, Mansson JE. Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. Dev. Neurosci 1991; 345-351.
- Erikson A, Astrom M, Mansson JE. Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. Neuropediatrics 1995; 26: 203-207.
- Rice EO, Mifflin TE, Sakallah S, Lee RE, Sansieri CA, Barranger JA. Gaucher disease: studies of phenotype, molecular diagnosis and treatment. Clin Genet 1996; 49: 111-118.
- Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 2001; 24: 319-327.
- Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66: 1777-1786.
- Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK,et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res 2003; 53: 387-395.
- Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 1990;87: 1913-1916.
- Kaplan P, Mazur A, Manar O, Chorrow J, Esplin J, Gribble JT, et al. Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. J Pediatr 1996; 129: 149-153.
- Aksu T, Ezgü FS, Tümer L,Gündüz M, Hasanoğlu A. Okülomotor Apraksi ile Başvuran Tip 3 Gaucher Hastasında Yüksek Doz imiglucerase Tedavisinin Sonuçları. Türkiye Klinikleri (J Pediatr Sci ) 2005;1:12-14.
- Accordo A, Pensiero S, Ciana G, Parentin F, Bembi B. Eye movement impairment recovery in a Gaucher patient treated with miglustat. Neurol Res Int 2010; 358534. Epub Sep 26.
- Cox TM. Gaucher disease: clinical profile and therapeytic developments. Biologics 2010; 4: 299-313.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2011 |
| Published in Issue | Year 2011Issue: 4 |