Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Diagnosis of variegate porphyria - hard to get?
Autore:
Fraunberg, MVZ; Kauppinen, R;
Indirizzi:
Univ Helsinki Hosp, Div Diabetol, Dept Med, Helsinki, Finland Univ Helsinki Hosp Helsinki Finland abetol, Dept Med, Helsinki, Finland
Titolo Testata:
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
fascicolo: 7, volume: 60, anno: 2000,
pagine: 605 - 610
SICI:
0036-5513(200011)60:7<605:DOVP-H>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTOPORPHYRINOGEN OXIDASE GENE; MISSENSE MUTATION; MOLECULAR-BASIS; IDENTIFICATION; FAMILIES;
Keywords:
diagnosis; mutation; porphyria;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Fraunberg, MVZ Univ Helsinki, Cent Hosp, Dept Med, POB 340, Helsinki 00029, Finland Univ Helsinki POB 340 Helsinki Finland 00029 0029, Finland
Citazione:
M.V.Z. Fraunberg e R. Kauppinen, "Diagnosis of variegate porphyria - hard to get?", SC J CL INV, 60(7), 2000, pp. 605-610

Abstract

Variegate porphyria (VP) is an inherited metabolic disease that results from the partial deficiency of protoporphyrinogen oxidase. In this communication we have used DNA technology in the diagnosis of VP and compared the results with the biochemical and clinical data. To date, we have diagnosed 107VP patients using either biochemical or DNA techniques or both. In addition, in 106 family members the diagnosis of VP could be excluded. The sensitivity and specificity of the biochemical screening for VP were studied among38 family members. These individuals were either asymptomatic (n=19) or had experienced occasional skin symptoms (n=13), acute attacks (n=5) or both (n=1). The sensitivity of urinary and fecal coproporphyrin analysis was 48%and 52%, respectively. The sensitivity of urinary uroporphyrin analysis was 71% and for fecal protoporphyrin 77%. Plasma fluorescence was sensitive in symptomatic patients even in remission, but resulted in false negatives in four asymptomatic patients with normal excretion of porphyrins in the urine. In our series of mutation screening, many new asymptomatic patients were identified, and this demonstrated that DNA analysis is the only reliable way to screen (a)symptomatic patients facilitating correct treatment and proper genetic counselling of family members at risk. Biochemical analyses (e.g. plasma fluorescence, fecal protoporphyrins, urinary copro- and uroporphyrins, porphobilinogen and delta-aminolevulinic acid) are essential when the diagnosis of VP is confirmed at the symptomatic phase.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 01:06:48