Protocolo de actuación en pacientes con sospecha de porfiria aguda

Revista Clínica Española - Tập 220 - Trang 592-596 - 2020
F.J. Castelbón Fernández1, I. Solares Fernandez1, E. Arranz Canales1, R. Enríquez de Salamanca Lorente2, M. Morales Conejo2
1Grupo CSUR de errores congénitos del metabolismo en el adulto, Hospital Universitario 12 de Octubre, Madrid, España
2Servicio de Medicina Interna. Hospital Universitario 12 de Octubre. Madrid. España

Tài liệu tham khảo

Anderson KE. Acute hepatic porphyrias: Current diagnosis & management. Mol Genet Metab. 2019;128:219-227; DOI: 10.1016/j.ymgme.2019.07.002 Bissell, 2017, Porphyria, N Engl J Med, 377, 862, 10.1056/NEJMra1608634 Enriquez de Salamanca Lorente, 2016, Porfirias, 1770 Wang, 2019, Acute Hepatic Porphyrias: Review and Recent Progress, Hepatol Commun, 3, 193, 10.1002/hep4.1297 Elder, 2013, The incidence of inherited porphyrias in Europe, J Inherit Metab Dis, 36, 849, 10.1007/s10545-012-9544-4 Lenglet, 2018, From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria, Hum Mol Genet, 27, 1164, 10.1093/hmg/ddy030 Stein, 2017, Update review of the acute porphyrias, Br J Haematol, 176, 527, 10.1111/bjh.14459 Calvo de Mora Almazán, 2012, Acute porphyria in an intensive care unit, Emergencias, 24, 454 Lamon, 1979, The Hoesch test: Bedside screening for urinary porphobilinogen in patients with suspected porphyria, Clin Chem, 20, 1438, 10.1093/clinchem/20.11.1438 Deacon, 1998, Identificaction of acute porphyria: Evaluation of a commercial screening test for urinary porphobilinogen, Ann Clin Biochem, 35, 726, 10.1177/000456329803500604 Pischik, 2015, An update of clinical management of acute intermittent porphyria, Appl Clin Genet, 8, 201, 10.2147/TACG.S48605 Stein, 2013, Best practice guidelines on clinical management of acute attacks of porphyria and their complications, Ann Clin Biochem, 50, 217, 10.1177/0004563212474555 Balwani, 2016, Acute Intermittent Porphyria in children: A case report and review of the literature, Mol Genet Metab, 119, 295, 10.1016/j.ymgme.2016.10.005 Kaplan, 1986, Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: A case report and review of the literature, J Child Neurol, 1, 38, 10.1177/088307388600100106 Balwani, 2017, Acute hepatic porphyrias: Recommendations for evaluation and long-term management, Hepatology, 66, 1314, 10.1002/hep.29313