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Journals / Osteoporoz Dünyasından / 2005 / Cilt: 11 - Sayı: 3

Skeletal manifestations in Gaucher disease: A case report

Gaucher hastalığında iskelet bulguları: Olgu sunumu

Altınay Göksel KARATEPE
Rezzan GÜNAYDIN
Taciser KAYA
Nesrin ŞEN
Gülriz ÖZBEK
Özgür Sipahi ESEN
Pages
127–131
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder.
📊
Key Findings & Data:It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3) or not (type 1).
💡
Conclusion & Impact:In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Osteoporoz · İskelet · Lizozomal depo hastalıkları

Abstract

Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3) or not (type 1). In the majority of patients there are hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is the most disabling manifestation. In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.

Özet

Gaucher hastalığı en sık görülen herediter lizozomal depo hastalığıdır. Makrofaj lizozomlarında glukoserebrozid birikmesine yol açan glukoserebrozidaz enzim eksikliği ile karakterizedir. Santral sinir sistemi tutulumu olup (tip 2 ve 3) olmamasına (tip 1) göre üç tipe ayrılmaktadır. Hastaların büyük çoğunluğunda hepatosplenomegali, anemi ve trombositopeni vardır. İskelet tutulumu da önemli olup en çok özürlülüğe yol açan bulgudur. Bu olgu sunumunda çok sayıda iskelet tutulumu olan bir Gaucher hastalığı olgusu sunulmuş ve literatür gözden geçirilmiştir.

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Cite This Article

KARATEPE, A. G., GÜNAYDIN, R., KAYA, T., ŞEN, N., ÖZBEK, G., ESEN, Ö. S. (2005). Skeletal manifestations in Gaucher disease: A case report. Osteoporoz Dünyasından, Cilt: 11 - Sayı: 3, 127–131. https://ajindex.com/articles/286773

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References (15)

  1. Charrow J, Esplin JA, et al. Gaucher disease recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998; 158: 1754-1760
  2. Weinreb NJ, Aggio MC, et al. Gaucher disease type 1: Revised recommendations on evaluations nd monitoring for adult patients. Semin Hematol 2004; 41 (Suppl 5): 15-22. 3. de Fost M, Aerts JMFG, et al. Gaucher disease: from fundamental research to effective therapeutic interventions. The Journal of Medicine 2003; 61(1): 3-8
  3. Pastores G, Wienreb NJ, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41 (Suppl. 5): 4-14
  4. Mc Govern MM, Desnick RJ. Lysosomal Storage Disease. In: Cecil RL, Goldman L, Bennett JC (ed). Cecil Textbook of Medicine. 22th Edition, WB Saunders Company, Philadelphia; 2004: 1279-1281
  5. Ida H, Rennert OM, et al. Type 1 Gaucher disease: Phenotypic expression and natural history in Japanese patients. Blood Cells, Molecules, and Disease 1998; 24(5): 73-81
  6. Meikle PJ, Hopwood JJ, et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281(3): 249- 254
  7. Maas M, Poll LW, et al. Imaging and quantifying skeletal involvemet in Gaucher disease. The British Journal of Radiology 2002; 75 (Suppl 1): A13-A24
  8. Weinreb NJ. Introduction. Semin Hematol 2004; 41(Suppl5): 1-3
  9. Wenstrup RJ, Roca-Espiau M, et al. Skeletal aspects of Gaucher disease: a review. The British Journal of Radiology 2002; 75(Suppl. 1): A2-A12
  10. Allen MJ, Myer BJ, et al. Pro-inflammatory cytokines and the pathogenesis of Gaucher’s disease: increased release of interleukin-6 and interleukin-10. Q J Med 1997; 90: 19-25
  11. Pastores GM, Patel MJ, et al. Bone and joint complications related to Gaucher disease. Current Rheumatology Reports 2000; 2: 175-180
  12. Charrow J, Andersson HC, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000; 160: 2835-2843
  13. Resnick D. Lipidoses, Histiocytoses, and Hyperlipoproteinemias. In: Resnick D (ed). Bone and Joint Imaging. Second Edition. WB Saunders Company, Philadelphia; 1996: 607-611
  14. Lebel E, Itzchaki M, et al. Skeletal manifestations in Gaucher disease: Presentation and treatment. IMAJ 1999; 1: 267-271
  15. Wenstrup RJ, Bailey L, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 2004; 104 (5): 1253-1257.