Porphyrias
Pathophysiology
Hemochromatosis genes and other factors contributing to the pathogenesis porphyria cutanea tarda.
Bulaj ZJ, Phillips JD, Ajioka RS, et al.
Blood. 2000;95:1565-1571.
Description: This paper reports the incidence of hemochromatosis gene mutations and other risk factors in porphyria cutanea tarda to help understand the contribution of inherited and acquired factors to the pathogenesis of this disease.
PubMed citation number: 10688809
Diagnosis
ACP Best Practice No 165: front line tests for the investigation of suspected porphyria.
Deacon AC, Elder GH.
J Clin Pathol. 2001;54:500-507.
Description: This article describes methods for the determination of urinary porphobilinogen, urinary and fecal total porphyrins, and total porphhrins in erythrocytes and plasma that are suitable for use in nonspecialist laboratories.
PubMed citation number: 11429419
Treatment
Acute porphyria: treatment with heme.
Tenhunen R, Mustajoki P.
Semin Liver Dis. 1998;18:53-55.
Description: This paper discusses the role of hematin and heme arginate in the role of treatment for porphyria and discusses the risks and benefits of both agents.
PubMed citation number: 9516678
Early administration of heme arginate for acute porphyric attacks.
Mustajoki P, Nordmann Y.
Arch Intern Med. 1993;153:2004-2008.
Description: This paper reports the outcome of patients experiencing an acute porphyric attack treated with heme arginate.
PubMed citation number: 8357285
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
Tezcan I, Xu W, Gurgey A, et al.
Blood. 1998;92:4053-4058.
Description: This paper reports on the feasibility of allogenic bone marrow transplantation as having long-term biochemical and clinical effectiveness in select cases of erythropoietic porphyrias.
PubMed citation number: 9834209
Review
Childhood porphyrias.
Ahmed I.
Mayo Clin Proc. 2002;77:825-836.
Description: This paper reviews the pathophysiology of porphyrias and discusses the presentation and treatment of the most common disorders in children.
PubMed citation number: 12173716
The acute porphyries.
Elder GH, Hift RJ, Meissner PN.
Lancet. 1997;349:1613-1617.
Description: This is a concise review adapted from a seminar outlining the pathologic and clinical features of three major acute porphyrias.
PubMed citation number: 9174571
Erythropoietic and hepatic porphyrias.
Gross U, Hoffmann GF, Doss MO.
J Inherit Metab Dis. 2000;23:641-661.
Description: This comprehensive review covers the molecular genetics, manifestations, diagnosis, and treatment of the erythropoietic and hepatic porphyrias.
PubMed citation number: 11117426
Diagnosis and management of porphyria.
Thadani H, Deacon A, Peters T.
BMJ. 2000;320:1647-1651.
Description: This review concisely covers the diagnosis and management of both systemic and cutaneous porphyrias.
PubMed citation number: 10856069