References
- Burrow T, Sun Y, Prada C, et al. CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings. Mol Genet Metab. 2015;114(2):233–241. doi:https://doi.org/10.1016/j.ymgme.2014.08.011.
- Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. IJMS. 2017; 18(2):441. doi:https://doi.org/10.3390/ijms18020441.
- Tantawy A. Cytokines in Gaucher disease: role in the pathogenesis of bone and pulmonary disease. Egypt J Med Hum Genet. 2015;16(3):207–213. doi:https://doi.org/10.1016/j.ejmhg.2015.02.001.
- Ługowska A, Hetmańczyk-Sawicka K, Iwanicka-Nowicka R, et al. Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes. Sci Rep. 2019;9(1):6060. doi:https://doi.org/10.1038/s41598-019-42584-1.
- Neudorfer O, Hadas-Halpern I, Elstein D, Abrahamov A, Zimran A. Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 Gaucher patients. Am J Hematol. 1997; 55(1):28–34.
- Ye ZX, Gao X, Qu Q, Ye X, He XD. Gaucher disease with mesenteric lymphadenopathy: a case with 13-year follow-up. Chin Med J (Engl). 2016; 129(20):2502–2503. doi:https://doi.org/10.4103/0366-6999.191825.
- Fowler DJ, Weber MA, Anderson G, Malone M, Sebire NJ, Vellodi A. Ultrastructural features of gaucher disease treated with enzyme replacement therapy presenting as mesenteric mass lesions. Fetal Pediatr Pathol. 2006; 25(5):241–248. doi:https://doi.org/10.1080/15513810601123334.
- Lim A, Vellodi A, McHugh K. Mesenteric mass in a young girl-an unusual site for Gaucher’s disease. Pediatr Radiol. 2002;32(9):674–676. doi:https://doi.org/10.1007/s00247-002-0761-0.
- Burrow T, Cohen M, Bokulic R, et al. Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. J Pediatr. 2007;150(2):202–206. doi:https://doi.org/10.1016/j.jpeds.2006.10.062.
- Yağci B, Salor O, Yalçin B, Gürakan F, Güçer S, Büyükpamukçu M. Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma. Pediatr Blood Cancer. 2009;52(7):870–871. doi:https://doi.org/10.1002/pbc.21948.
- Lee B, Kim D, Kim G, Cho K, Yoon H, Yoo H. Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. Mol Genet Metab. 2012;105(3):522–524. doi:https://doi.org/10.1016/j.ymgme.2011.12.010.
- Abdelwahab M, SeifEldien H. Mesenteric and mediastinal lymphadenopathy in Egyptian children with Gaucher disease types 1 and 3 treated with enzyme replacement therapy. J PediatrHematol Oncol. 2015;37:316–322. doi:https://doi.org/10.1097/MPH.0000000000000297.
- Hurvitz N, Dinur T, Becker-Cohen M, et al. Glucosylsphingosine (lyso-Gb1) as a biomarker for monitoring treated and untreated children with Gaucher disease. IJMS. 2019;20(12):3033. doi:https://doi.org/10.3390/ijms20123033.
- Murugesan V, Chuang W, Liu J, et al. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016;91(11):1082–1089. doi:https://doi.org/10.1002/ajh.24491.
- Gasparyan A, Ayvazyan L, Mukanova U, Yessirkepov M, Kitas G. The platelet-to-lymphocyte ratio as an inflammatory marker in rheumatic diseases. Ann Lab Med. 2019;39(4):345–357. doi:https://doi.org/10.3343/alm.2019.39.4.345.
- Lu Y, Jiang J, Ren C. The clinicopathological and prognostic value of the pretreatment neutrophil-to-lymphocyte ratio in small cell lung cancer: a meta-analysis. PLoS One. 2020;15(4):e0230979. doi:https://doi.org/10.1371/journal.pone.0230979.
- Duman T, Aktas G, Atak B, Kocak M, Erkus E, Savli H. Neutrophil to lymphocyte ratio as an indicative of diabetic control level in type 2 diabetes mellitus. Afr Health Sci. 2019;19(1):1602–1606. doi:https://doi.org/10.4314/ahs.v19i1.35.
- Uçar C, Çokal B, Artık H, İnan L, Yoldaş T. Comparison of neutrophil-lymphocyte ratio (NLR) in Parkinson’s disease subtypes. Neurol Sci. 2017;38(2):287–293. doi:https://doi.org/10.1007/s10072-016-2758-8.
- Beutler E, Grabowski GA. Gaucher Disease. The Metabolic and Molecular Bases of Inherited Diseases. Vol. III. New York: McGraw-Hill; 2001:3635–3668.
- De Fost M, Hollak C, Groener J, et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood. 2006;108(3):830–835. doi:https://doi.org/10.1182/blood-2005-12-5072.
- Schiffmann R, Jeff Sevigny J, Rolfs A, et al. The definition of neuronopathic Gaucher disease. J Inherit Metab Dis. 2020;43(5):1056–1059. doi:https://doi.org/10.1002/jimd.12235.
- Zimran A, Kay A, Gelbart T, et al. Gaucher disease. clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore). 1992;71(6):337–353.
- Childs JT, Thoirs KA, Esterman AJ. The development of a practice and uncomplicated predictive equation to determine liver volume from simple linear ultrasound measurements of the liver. Radiography. 2016;22(2):e125–e130. doi:https://doi.org/10.1016/j.radi.2015.12.009.
- Yetter E, Acosta K, Olson M, Blundell K. Estimating splenic volume: sonographic measurements correlated with Helical CT determination. AJR Am J Roentgenol. 2003;181(6):1615–1620. doi:https://doi.org/10.2214/ajr.181.6.1811615.
- Elstein D, Hadas-Halpern I, Azuri Y, Abrahamov A, Bar-Ziv Y, Zimran A. Accuracy of ultrasonography in assessing spleen and liver size in patients with Gaucher disease: comparison to computed tomographic measurements. J Ultrasound Med. 1997;16(3):209–211. doi:https://doi.org/10.7863/jum.1997.16.3.209.
- Spijkers S, Staats J, Littooij A, Nievelstein R. Abdominal lymph node size in children at computed tomography. Pediatr Radiol. 2020;50(9):1263–1270. doi:https://doi.org/10.1007/s00247-020-04715-z.
- Lee J, Kim N, Na S, Youn Y, Shin C. Reference values of neutrophil-lymphocyte ratio, lymphocyte-monocyte ratio, platelet-lymphocyte ratio, and mean platelet volume in healthy adults in South Korea. Medicine (Baltimore). 2018;97(26):e11138. doi:https://doi.org/10.1097/MD.0000000000011138.
- Saville J, McDermott B, Chin S, Fletcher J, Fuller M. Expanding the clinical utility of glucosylsphingosine for Gaucher disease. J Inherit Metab Dis. 2019;43(3):1–6.
- Ivanova M, Limgala R, Changsila E, Ioanou C, Badger A, Goker-Alpan O. Gaucher disease is associated with lymph node reactive follicular hyperplasia with tingible body macrophages of M2 phenotype. Int J ClinExp Pathol. 2017;10:2290–2297.
- Yano S, Moseley K, Mahajan N, Warren M, Linda Vachon L. Large mesenteric gaucheroma responds to substrate reduction therapy: a new management of Gaucheromas. J Pediatr Genet. 2020; doi:https://doi.org/10.1055/s-0040-1714699.
- Ramaswami U, Mengel E, Berrah A, et al. Throwing a spotlight on under-recognized manifestations of Gaucher disease: pulmonary involvement, lymphadenopathy and Gaucheroma. Mol Genet Metab. 2021;133(4):335–344. doi:https://doi.org/10.1016/j.ymgme.2021.06.009.
- Mahajan N, Warren M, Yano S. Reduction of large soft-tissue Gaucheromas with substrate reduction therapy . J Inherit Metab Dis. 2020;43(2):375–376. doi:https://doi.org/10.1002/jimd.12188.
- Aflaki E, Moaven N, Borger D, et al. Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages. Aging Cell. 2016;15(1):77–88. doi:https://doi.org/10.1111/acel.12409.
- Sara SF, César Fernandes P, JrJosé Barbosa Silva M, et al. The neutrophil-to-lymphocyte ratio: a narrative review. Ecancermedicalscience. 2016;10:702. doi:https://doi.org/10.3332/ecancer.2016.702.
- Imtiaz F, Shafique K, Mirza SS, Ayoob Z, Vart P, Rao S. Neutrophil lymphocyte ratio as a measure of systemic inflammation in prevalent chronic diseases in Asian population. Int Arch Med. 2012; 5(1):2. doi:https://doi.org/10.1186/1755-7682-5-2.
- Nair S, Bar N, Xu M, Dhodapkar M, Mistry P. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Mol Genet Metab. 2020;129(4):286–291. doi:https://doi.org/10.1016/j.ymgme.2020.01.009.