Document Detail

Dual porphyria of coexisting variegata and cutanea tarda.
MedLine Citation:
PMID:  7548446     Owner:  NLM     Status:  MEDLINE    
While porphyria cutanea tarda and porphyria variegata are independent diseases, we report on seven rare cases with a coincidence of these two different porphyrias in one individuum. The mutual clinical symptom was a cutaneous photosensitivity, which is a major symptom in porphyria cutanea tarda and a facultative one in porphyria variegata. Additionally, five patients had also experienced episodes of acute abdominal pain, which were in three cases accompanied by neurological symptoms, thus offering evidence for an acute hepatic porphyria, such as porphyria variegata. Determination of urinary porphyrin metabolites revealed a porphyria cutanea tarda-like excretion pattern with an elevation of uroporphyrin (mean 1134 nmol/24 h, range 563-4052, normal < or = 30) and heptacarboxyporphyrin (mean 389 nmol/24 h, range 64-830, normal < or = 4). In all patients, however, urinary coproporphyrin was also increased, reaching levels too high for porphyria cutanea tarda but typical for porphyria variegata (mean 1788 nmol/24 h, range 142-4168, normal < or = 120). Fecal porphyrin excretion also resembled the variegate-type with a high concentration especially of protoporphyrin (mean 628 nmol/g dry weight, range 401-1018, normal < or = 151), accompanied by an increase of coproporphyrin (mean 194 nmol/g dry weight, range 75-409, normal < or = 37). The urinary porphyrin precursors 5-aminolaevulinic acid and porphobilinogen were markedly elevated only in one patient, who was in an acute porphyric phase at the time of investigation. The activity of uroporphyrinogen decarboxylase in erythrocytes was considerably decreased in six of our cases (33-64%) and slightly diminished in the other one (83% of normal activity).(ABSTRACT TRUNCATED AT 250 WORDS)
I Sieg; L K Bhutani; M O Doss
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies     Volume:  33     ISSN:  0939-4974     ISO Abbreviation:  Eur J Clin Chem Clin Biochem     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1995-11-21     Completed Date:  1995-11-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9105775     Medline TA:  Eur J Clin Chem Clin Biochem     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  405-10     Citation Subset:  IM    
Abteilung für Klinische Biochemie im Fachbereich Humanmedizin, Philipps-Universität, Marburg/Lahn, Germany.
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MeSH Terms
Aminolevulinic Acid / urine
Porphobilinogen / urine
Porphyria Cutanea Tarda / complications*,  diagnosis,  urine
Porphyrias, Hepatic / complications*,  diagnosis,  urine
Porphyrins / analysis,  urine
Reference Values
Reg. No./Substance:
0/Porphyrins; 106-60-5/Aminolevulinic Acid; 487-90-1/Porphobilinogen

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