Front line tests for the investigation of suspected porphyria

被引:87
作者
Deacon, AC
Elder, GH
机构
[1] Cardiff Univ, Dept Med Biochem, Cardiff CF14 4XN, S Glam, Wales
[2] Kings Coll Hosp London, Dept Clin Biochem, London SE5 9RS, England
关键词
porphyria; haem biosynthesis; best practice guidelines;
D O I
10.1136/jcp.54.7.500
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
The porphyrias are uncommon disorders of haem biosynthesis and their effective management requires prompt and accurate diagnosis. This article describes methods for the determination of urinary porphobilinogen, urinary and faecal total porphyrins, and total porphyrins in erythrocytes and plasma that are suitable for use in non-specialist laboratories. The selection and interpretation of these methods, and the indications for further, more specialised, investigation are discussed.
引用
收藏
页码:500 / 507
页数:8
相关论文
共 27 条
[1]  
BICKERS DR, 1999, FITZPATRICKS DERMATO, P1766
[2]  
BLAKE D, 1992, CLIN CHEM, V38, P96
[3]  
Blake D, 1992, CLIN BIOCHEM REV, V13, pS1
[4]   URINARY PORPHYRIN EXCRETION IN NORMAL-CHILDREN AND ADULTS [J].
BLOOM, KE ;
ZAIDER, EF ;
MORLEDGE, LJ ;
POHFITZPATRICK, MB .
AMERICAN JOURNAL OF KIDNEY DISEASES, 1991, 18 (04) :483-489
[5]   Diagnosis of porphyric syndromes: A practical approach in the era of molecular biology [J].
Bonkovsky, HL ;
Barnard, GF .
SEMINARS IN LIVER DISEASE, 1998, 18 (01) :57-65
[6]   ANALYTICAL SENSITIVITY AND SPECIFICITY OF 2 SCREENING METHODS FOR URINARY PORPHOBILINOGEN [J].
BUTTERY, JE ;
CARRERA, AM ;
PANNALL, PR .
ANNALS OF CLINICAL BIOCHEMISTRY, 1990, 27 :165-166
[7]   RELIABILITY OF THE PORPHOBILINOGEN SCREENING ASSAY [J].
BUTTERY, JE ;
CARRERA, AM ;
PANNALL, PR .
PATHOLOGY, 1990, 22 (04) :197-198
[8]  
DEACON AC, 1990, CLIN CHEM, V36, P1383
[9]   PERFORMANCE OF SCREENING-TESTS FOR PORPHYRIA [J].
DEACON, AC .
ANNALS OF CLINICAL BIOCHEMISTRY, 1988, 25 :392-397
[10]   Limitations of solvent fractionation methods for urinary and faecal porphyrins [J].
Deacon, AC ;
Ledden, JA .
ANNALS OF CLINICAL BIOCHEMISTRY, 1998, 35 :314-316