Pathogenesis

Bulaj ZJ, Phillips JD, Ajioka RS, Franklin MR, Griffen LM, Guinee DJ, Edwards CQ, Kushner JP.

Hemochromatosis genes and other factors contributing to the pathogenesis porphyria cutanea tarda.
Blood 95:5 Mar 1, 2000: 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.

Diagnosis

Deacon AC, Elder GH.

ACP Best Practice No 165: front line tests for the investigation of suspected porphyria.
J Clin Pathol 54:7 Jul, 2001: 500-507.
Description: This article describes methods for the determination of urinary porphobilinogen, urinary an1d fecal total porphyrins, and total porphhrins in erythrocytes and plasma that are suitable for use in non-specialist laboratories.

Treatment

Tenhunen R, Mustajoki P.

Acute porphyria: treatment with heme.
Semin Liver Dis 18:1, 1998: 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.

Mustajoki P, Nordmann Y.

Early administration of heme arginate for acute porphyric attacks.
Arch Intern Med 153:17 Sep 13, 1993: 2004-2008.
Description: This paper reports the outcome of patients experiencing an acute porphyric attack treated with heme arginate.

Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, Yetgin S, Ersoy F, Aizencang G, Astrin KH, Desnick RJ.

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
Blood 92:11 Dec 1, 1998: 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.

Review

Ahmed I.

Childhood porphyrias.
Mayo Clin Proc 77:8 Aug, 2002: 825-836.
Description: This paper reviews the pathophysiology of porphyrias and discusses the presentation and treatment of the most common disorders in children.

Elder GH, Hift RJ, Meissner PN.

The acute porphyrias
Lancet 349:9065 May 31, 1997: 1613-1617.
Description: This is a concise review adapted from a seminar outlining the pathologic and clinical features of three major acute porphyrias.

Gross U, Hoffmann GF, Doss MO.

Erythropoietic and hepatic porphyrias.
J Inherit Metab Dis 23:7 Nov, 2000: 641-661.
Description: This comprehensive review covers the molecular genetics, manifestations, diagnosis, and treatment of the erythropoietic and hepatic porphyrias.

Thadani H, Deacon A, Peters T.

Diagnosis and management of porphyria.
BMJ 320:7250 Jun 17, 2000: 1647-1651.
Description: This review concisely covers the diagnosis and management of both systemic and cutaneous porphyrias.

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