Journal of Child

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Case Report


DOI :10.5222/j.child.2016.025   IUP :10.5222/j.child.2016.025    Full Text (PDF)

Patient with Gaucher Disease Presenting with Respiratory Distress

Nafiye Urgancı, Gülperi Yağar Keskin

Gaucher disease is an autosomal recessive , lysosomal storage disease, characterized by glycosylcerebroside deposition in reticulo-endothelial system 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 progression of neurological disease there are 3 subtypes. Type 1 adult form where there is no neurological involvement, Type 2, infantile or acute neuropathic and Type 3, subacute juvenile neuropathic type. Curative treatment of rarely seen Gaucher disease has been revived with advancements in enzyme and gene therapy, and it has been reviewed together with this case detected in our clinic.

Keywords: Gaucher disease, hepatosplenomegaly, enzyme replacement
DOI :10.5222/j.child.2016.025   IUP :10.5222/j.child.2016.025    Full Text (PDF)

Solunum Sıkıntısı ile Başvuran Gaucher Hastası

Nafiye Urgancı, Gülperi Yağar Keskin

Gaucher hastalığı, retiküloendotelyal sistem (RES) hücreleri içinde glukozilseramit birikiminin neden olduğu, lizozomal glukoserobrosidaz enzim eksikliğine bağlı otozomal 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 vaka ile birlikte yeniden gözden geçirilmiştir.

Keywords: Gaucher hastalığı, hepatosplenomegali, enzim tedavisi

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References

  • 1. 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). google scholar
  • 2. 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 google scholar
  • 3. 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 google scholar
  • 4. Mikosch P, Hughes D. An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr Çocuk Dergisi 16(1-2):25-28, 2016 28 2010;160(23-24):609-24. https://doi.org/10.1007/s10354-010-0841-y google scholar
  • 5. Fredrickson, DS; Sloan, HR. Glycosylceremide lipidoses: Gaucher’s disease. In: Stanbury, JB; Wyngaarden, JB; Fredrickson, DS, editors. The metabolic basis of inherited disease. McGraw-Hill; New York: 1972. google scholar
  • 6. 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. google scholar
  • 7. Miller JD, McCluer R, Kanfer JN. Gaucher’s disease: neurologic disorder in adult siblings. Ann Intern Med 1973;78:883-7. https://doi.org/10.7326/0003-4819-78-6-883 google scholar
  • 8. Beutler E, Saven A. Misuse of marrow examination in the diagnosis of Gaucher disease. Blood 1990;76(3): 646-8. google scholar
  • 9. Evin M, Pleskova I, 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 google scholar
  • 10. Okuyama T. Gaucher disease. Brain Nerve 2015; 67(9):1109-13. google scholar

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APA

Urgancı, N., & Yağar Keskin, G. (2016). Patient with Gaucher Disease Presenting with Respiratory Distress. Journal of Child, 16(1), 25-28. https://doi.org/10.5222/j.child.2016.025


AMA

Urgancı N, Yağar Keskin G. Patient with Gaucher Disease Presenting with Respiratory Distress. Journal of Child. 2016;16(1):25-28. https://doi.org/10.5222/j.child.2016.025


ABNT

Urgancı, N.; Yağar Keskin, G. Patient with Gaucher Disease Presenting with Respiratory Distress. Journal of Child, [Publisher Location], v. 16, n. 1, p. 25-28, 2016.


Chicago: Author-Date Style

Urgancı, Nafiye, and Gülperi Yağar Keskin. 2016. “Patient with Gaucher Disease Presenting with Respiratory Distress.” Journal of Child 16, no. 1: 25-28. https://doi.org/10.5222/j.child.2016.025


Chicago: Humanities Style

Urgancı, Nafiye, and Gülperi Yağar Keskin. “Patient with Gaucher Disease Presenting with Respiratory Distress.” Journal of Child 16, no. 1 (May. 2025): 25-28. https://doi.org/10.5222/j.child.2016.025


Harvard: Australian Style

Urgancı, N & Yağar Keskin, G 2016, 'Patient with Gaucher Disease Presenting with Respiratory Distress', Journal of Child, vol. 16, no. 1, pp. 25-28, viewed 23 May. 2025, https://doi.org/10.5222/j.child.2016.025


Harvard: Author-Date Style

Urgancı, N. and Yağar Keskin, G. (2016) ‘Patient with Gaucher Disease Presenting with Respiratory Distress’, Journal of Child, 16(1), pp. 25-28. https://doi.org/10.5222/j.child.2016.025 (23 May. 2025).


MLA

Urgancı, Nafiye, and Gülperi Yağar Keskin. “Patient with Gaucher Disease Presenting with Respiratory Distress.” Journal of Child, vol. 16, no. 1, 2016, pp. 25-28. [Database Container], https://doi.org/10.5222/j.child.2016.025


Vancouver

Urgancı N, Yağar Keskin G. Patient with Gaucher Disease Presenting with Respiratory Distress. Journal of Child [Internet]. 23 May. 2025 [cited 23 May. 2025];16(1):25-28. Available from: https://doi.org/10.5222/j.child.2016.025 doi: 10.5222/j.child.2016.025


ISNAD

Urgancı, Nafiye - Yağar Keskin, Gülperi. “Patient with Gaucher Disease Presenting with Respiratory Distress”. Journal of Child 16/1 (May. 2025): 25-28. https://doi.org/10.5222/j.child.2016.025



TIMELINE


Submitted11.02.2017
Accepted22.05.2017

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