Splenomegaly as a sign of lysosomal storage disorder
DOI:
https://doi.org/10.24197/aramcv.56.2020.400-414Keywords:
Spleen, Gaucher Illness, Lysosomal storage disorders (LSDs).Abstract
Healthy spleen structure works as hematopoietic function for the fetal period; after, it becomes a big lymphoid organ, and also, it´s from the blood cells filter System.
Gaucher illness is a strange lysosomal storage disorder, most of them are inherited and multisystemic. Nowadays, seventy LSDs have been embraced
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Baudelaire C. El spleen de París (pequeños poemas en prosa). Ed. Susaeta, 1994.
Dacie JV, Brain MC, Harrison CV et al. Non-tropical splenomegaly (“primary hypersplenism”) a review of ten cases and their relationship to malignant lymphomas. Br J haematol 1969; 17: 317.
O'Reilly RA. Splenomegaly in 2505 Patients at a Large University Medical Center From 1913 to 1995. The Western Journal of Medicine 1998; 169:88-97.
Curovic Rotbain E, Lund Hansen D, Schaffalitzky de Muckadell O et al. Splenomegaly-diagnostic validity, work-up, and underlying causes. PloS One 2017; 12:e0186674.
Motta I, Filocamo M, Poggiali E et al. a multicenter observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia. European Journal of Haematology 2016; 96:352-359.
Sills R.H., Hochberg Z. (eds): Practical Algorithms in Pediatric Hematology and Oncology. Basel, Karger, 2003, pp 50-51. doi: 10.1159/000069597.
Chapman J, Azevedo AM. Splenomegaly. [Updated 2019 May 6]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430907/.
Platt FM, d´Azzo A, Davidson BL et al. Lysosomal storage diseases. Nature Reviews Disease Primers 2018; 4:27.
Platt FM. Nature Reviews Drug Discovery 2018; 17:133-150.
Grabowski GA. Phenotype, diagnosis and treatment of Gaucher´s disease. Lancet 2008; 372:1263-1271.
Schuchman EH & Wasserstein MP. Types A and B Niemann-Pick disease. Best practice & research Clinical endocrinology & metabolism 2015; 29:237-247.
Schuchman EH & Desnick RJ. Types A and B Niemann-Molecular genetics and metabolism 2017; 120:27-33.
Kaplan P, Andersson HC, Kacena KA et al. The clinical and demographic characteristics of nonneuropathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006; 160: 603-608.
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000; 160(18):2835-2843.
Grawoski GA, Andria G, Baldello A, et al. Pediatric non-neuronopathic Gaucher disease, presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 2004; 163: 58-66.
Mc Govern MM, Aron A, Brodie SE et al. Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology 2006; 66: 228-232.
Wasserstein MP, Desnick RJ, Schuchman EH, et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004; 114: e672-e677.
Thurberg BL, Wasserstein MP, Schlano T. Liver and skin histopathology in adults with sphingomyelinase deficiency (Niemann-Pck disease typeB). Am J Surg Pathol. 2012;36:1234-1246
Guillemot N, Troadec C, de Villemeur TB, et al. Lung disease in Niemann-Pick disease. Pediatr Pulmonol 2007; 42: 1207-1214.
McGovern, MM, Pohl-Worgall T, Deckelbaum RJ, .et al. Lipid abnormalities in children with types A and B Niemann-Pick disease. J Pediatr 2004;145:77-81.
Di Rocco M, Andria G, Deodato F, et al. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm. Pediatric blood & cancer. 2014;61:1905-1909.
Mistry PK, Capellini MD, Lukina E. A reappraisal of Gaucher disease-diagnosis and disease management algorithm. American Journal of Hematology 2011; 86:110-115.
McGovern MM, Dionisi C, Giugliani B et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics in Medicine 2017; 19:967-974.
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