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Modern diagnosis and management of the porphyrias.
Br J Haematol. 2006 Nov; 135(3):281-92.BJ

Abstract

Recent advances in the molecular understanding of the porphyrias now offer specific diagnosis and precise definition of the types of genetic mutations involved in the disease. Molecular diagnostic testing is powerful and very useful in kindred evaluation and genetic counselling when a disease-responsible mutation has been identified in the family. It is also the only way to properly screen asymptomatic gene carriers, facilitating correct treatment and appropriate genetic counselling of family members at risk. However, it should be noted that DNA-based testing is for the diagnosis of the gene carrier status, but not for the diagnosis of clinical syndrome or severity of the disease, e.g. an acute attack. For the diagnosis of clinically expressed porphyrias, a logical stepwise approach including the analysis of porphyrins and their precursors should not be underestimated, as it is still very useful, and is often the best from the cost-effective point of view.

Authors+Show Affiliations

Laboratory of Biochemical Hematology, The Rockefeller University, New York 10021, USA. ssassa@jcom.home.ne.jp

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16956347

Citation

Sassa, Shigeru. "Modern Diagnosis and Management of the Porphyrias." British Journal of Haematology, vol. 135, no. 3, 2006, pp. 281-92.
Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol. 2006;135(3):281-92.
Sassa, S. (2006). Modern diagnosis and management of the porphyrias. British Journal of Haematology, 135(3), 281-92.
Sassa S. Modern Diagnosis and Management of the Porphyrias. Br J Haematol. 2006;135(3):281-92. PubMed PMID: 16956347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Modern diagnosis and management of the porphyrias. A1 - Sassa,Shigeru, Y1 - 2006/09/04/ PY - 2006/9/8/pubmed PY - 2006/12/15/medline PY - 2006/9/8/entrez SP - 281 EP - 92 JF - British journal of haematology JO - Br. J. Haematol. VL - 135 IS - 3 N2 - Recent advances in the molecular understanding of the porphyrias now offer specific diagnosis and precise definition of the types of genetic mutations involved in the disease. Molecular diagnostic testing is powerful and very useful in kindred evaluation and genetic counselling when a disease-responsible mutation has been identified in the family. It is also the only way to properly screen asymptomatic gene carriers, facilitating correct treatment and appropriate genetic counselling of family members at risk. However, it should be noted that DNA-based testing is for the diagnosis of the gene carrier status, but not for the diagnosis of clinical syndrome or severity of the disease, e.g. an acute attack. For the diagnosis of clinically expressed porphyrias, a logical stepwise approach including the analysis of porphyrins and their precursors should not be underestimated, as it is still very useful, and is often the best from the cost-effective point of view. SN - 0007-1048 UR - https://www.unboundmedicine.com/medline/citation/16956347/Modern_diagnosis_and_management_of_the_porphyrias_ L2 - https://doi.org/10.1111/j.1365-2141.2006.06289.x DB - PRIME DP - Unbound Medicine ER -