2019, Número 1
<< Anterior Siguiente >>
Ann Hepatol 2019; 18 (1)
Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation
Cunha-Silva M, Mazo DFC, Corrêa BR, LopesTM, Arrelaro RC, Ferreira GL, Rabello MI, Sevá-Pereira T, Escanhoela CAF, Almeida JRS
Idioma: Ingles.
Referencias bibliográficas: 29
Paginas: 230-235
Archivo PDF: 377.29 Kb.
RESUMEN
Sin resumen.
REFERENCIAS (EN ESTE ARTÍCULO)
Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013; 58: 1230-43.
Reiner Z, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, et al. Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 2014; 235: 21-30.
Valayannopoulos V, Mengel E, Brassier A, Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metab 2016; 120: 62-6.
Balwani M, Breen C, Enns GM, Deegan PB, Honzík T, Jones S, Kane JP, et al. Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients with Cholesteryl Ester Storage Disease. Hepatology 2013; 58: 950-7.
Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Cocker M, et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med 2015; 373: 1010-20.
U.S. Food & Drug Administration Application Number 125561Orig1s000. Sebelipase alfa submission, 2016-01-05. Available at www.accessdata.fda.gov/drugsatfda_docs/ nda/2015/125561orig1s000approv.pdf
Caldwell S. Cryptogenic cirrhosis: what are we missing? Curr Gastroenterol Rep 2010; 12: 40-8.
Maheshwari A, Thuluvath PJ. Cryptogenic cirrhosis and NAFLD: are they related? Am J Gastroenterol 2006; 101: 664-8.
Himes RW, Barlow SE, Bove K, Quintanilla NM, Sheridan R, Kohli R. Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease. Pediatrics 2016; 138: e20160214.
Pullinger CR, Stock EO, Movsesyan I, Malloy MJ, Frost PH, Tripuraneni R, Quinn AG, et al. Identification and metabolic profiling of patients with lysosomal acid lipase deficiency. J Clin Lipidol 2015; 9: 716-26.
Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, et al. Different missense mutations in histidine- 108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. Hum Mutat 1998; 12: 44-51.
Burton BK, Deegan PB, Enns GM, Guardamagna O, Horslen S, Hovingh GK, Lobritto SJ, et al. Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr 2015; 61: 619-25.
Tadiboyina VT, Liu DM, Miskie BA, Wang J, Hegele RA. Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. Lipids Health Dis 2005; 4: 1-6.
Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, et al. ä-Tocopherol reduces lipid accumulation in Niemann- Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem 2012; 287: 39349-60.
Su K, Donaldson E, Sharma R. Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa. Appl Clin Genet 2016; 9: 157-67.
Krivit W, Freese D, Chan KW, Kulkarni R. Wolman’s disease: a review of treatment with bone marrow transplantation and considerations for the future. Bone Marrow Transplant 1992; 10: 97-101.
Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, et al. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant 2009; 43: 21-7.
Gramatges MM, Dvorak CC, Regula DP, Enns GM, Weinberg K, Agarwal R. Pathological evidence of Wolman’s disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant 2009; 44: 449-50.
Yanir A, Allatif MA, Weintraub M, Stepensky P. Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. Mol Genet Metab 2013; 109: 224-6.
Arterburn JN, Lee WM, Wood RP, Shaw BW, Markin RS. Orthotopic liver transplantation for cholesteryl ester storage disease. J Clin Gastroenterol 1991; 13: 482-5.
Leone L, Ippoliti PF, Antonicelli R, Balli F, Gridelli B. Treatment and liver transplantation for cholesterol ester storage disease. J Pediatr 1995; 127: 509-10.
Ambler GK, Hoare M, Brais R, Shaw A, Butler A, Flynn P, Deegan P, et al. Orthotopic liver transplantation in an adult with cholesterol ester storage disease. JIMD Rep 2013; 8: 41-6.
Sreekantam S, Nicklaus-Wollenteit I, Orr J, Sharif K, Vijay S, McKiernan PJ, Santra S. Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency. Pediatr Transplant 2016; 20: 851-4.
Valayannopoulos V, Malinova V, Honzík T, Balwani M, Breen C, Deegan PB, Enns GM, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol 2014; 61: 1135-42.
Shah DS, Bower AG, Yang Y, Rojas-Caro S. Estimation of 10 Year Framingham Cardiovascular (CV) Risk of Adults with Lysosomal Acid Lipase (LAL) Deficiency. J Clin Lipid 2015; 9: 455-6.
Bay L, Canero Velasco C, Ciocca M, Cotti A, Cuarterolo M, Fainboim A, Fassio E, et al. Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LALD). Clinical and diagnostic aspects, and a new treatment. An update. Arch Argent Pediatr 2017; 115(3): 287-93.
Paton DM. Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency. Drugs Today (Barc) 2016; 52: 287-93.
Frampton JE. Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency. Am J Cardiovasc Drugs 2016; 16: 461-8.
Agência Nacional de Vigilância Sanitária (Anvisa). Kanuma® (alfassebelipase) approval, 10-18-2017. Available at http:// portal.anvisa.gov.br/