Gaucher disease presenting with liver failure. Clinical observation
Abstract
Pediatric Acute liver failure (PALF) is a potentially devastating condition, which occurs in previously healthy children of alleges and frequently leads to a rapid clinical deterioration. An identified cause for liver injury is lacking in approximately 30% of cases. Children with unde-termined diagnosis have lower spontaneous survival and higher rates of transplantation and death than other diagnostic groups. Gaucher disease is the prototypically sosomal storage disease. It results from the accumulation of underrated glucosylceramide in the reticule endothelial system of the bone marrow, spleen and liver dueto deficiency of the enzyme glucocerebrosidase. This leads to hematologic, visceral and skeletal manifestations. In our patient, both acute liver failure and Gaucher's disease were found together. It is presented here because it is a rare case.
References
Kwong, A., et al., OPTN/SRTR 2020 annual data report: liver. American Journal of Transplantation, 2022. 22: p. 204-309.
Squires, J.E., et al., North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition position paper on the diagnosis and management of pediatric acute liver failure. Journal of pediatric gastroenterology and nutrition, 2022. 74(1): p. 138-158.
Stirnemann, J., et al., A review of Gaucher disease pathophysiology, clinical presentation and treatments. International journal of molecular sciences, 2017. 18(2): p. 441.
Hruska, K.S., et al., Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Human mutation, 2008. 29(5): p. 567-583.
Hoops, S.L., T. Kolter, and K. Sandhoff, Saposin C and other sphingolipid activator proteins. GAUCHER, 2007.
Dionisi-Vici, C., et al., Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. The Journal of pediatrics, 2002. 140(3): p. 321-329.
Poorthuis, B.J., et al., The frequency of lysosomal storage diseases in The Netherlands. Human genetics, 1999. 105(1): p. 151-156.
Sidransky, E., New perspectives in type 2 Gaucher disease. Advances in pediatrics, 1997. 44: p. 73-107.
Tylki‐Szymańska, A., et al., Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism, 2010. 33(4): p. 339-346.
Squires Jr, R.H., et al., Acute liver failure in children: the first 348 patients in the pediatric acute liver failure study group. The Journal of pediatrics, 2006. 148(5): p. 652-658. e2.
Narkewicz, M.R., et al., A learning collaborative approach increases specificity of diagnosis of acute liver failure in pediatric patients. Clinical Gastroenterology and Hepatology, 2018. 16(11): p. 1801-1810. e3.
Alonso, E.M., et al., Pediatric acute liver failure of undetermined cause: A research workshop. Hepatology, 2017. 65(3): p. 1026-1037.
Sidransky, E., Gaucher disease: insights from a rare Mendelian disorder. Discovery medicine, 2012. 14(77): p. 273.
Simpson, W.L., G. Hermann, and M. Balwani, Imaging of Gaucher disease. World journal of radiology, 2014. 6(9): p. 657.
Pastores, G. and D. Hughes, Gaucher disease: Synonyms: Glucocerebrosidase deficiency, glucosylceramidase deficiency. GeneR-eviews®. Seattle, WA: University of Washington, Seattle, 2018.
Keywords
болезнь Гоше
болезнь накопления kəskin qaraciyər çatışmazlığı
gaucher xəstəliyi
depo xəstəliyi. acute liver failure
Gaucher's disease
storage disease