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Titolo:
Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics
Autore:
Ohura, T; Abukawa, D; Shiraishi, H; Yamaguchi, A; Arashima, S; Hiyamuta, S; Tada, K; Iinuma, K;
Indirizzi:
Tohoku Univ, Sch Med, Dept Pediat, Aoba Ku, Sendi 9808574, Japan Tohoku Univ Sendi Japan 9808574 pt Pediat, Aoba Ku, Sendi 9808574, Japan Sapporo City Inst Publ Hlth, Sapporo, Hokkaido, Japan Sapporo City Inst Publ Hlth Sapporo Hokkaido Japan poro, Hokkaido, Japan
Titolo Testata:
JOURNAL OF INHERITED METABOLIC DISEASE
fascicolo: 1, volume: 22, anno: 1999,
pagine: 74 - 80
SICI:
0141-8955(199902)22:1<74:PSOSFW>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
MONOCLONAL-ANTIBODY; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Ohura, T Tohoku,Univ, Sch Med, Dept Pediat, Aoba Ku, 1-1 Seiryo Machi, Sendi 9808574 Tohoku Univ 1-1 Seiryo Machi Sendi Japan 9808574 , Sendi 9808574
Citazione:
T. Ohura et al., "Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics", J INH MET D, 22(1), 1999, pp. 74-80

Abstract

Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1 to6 years who were seen at local paediatric outpatient clinics in the MiyagiPrefecture. We measured ceruloplasmin (CP) concentrations in 2789 childrenusing an enzyme-linked immunosorbent assay. The mean value was 12.4 +/- 3.95 mg/dl blood. Among these children we identified two (case 1, male, 2 years old; case 2, female, 3 years old) with markedly reduced CP concentrations. Apart from low serum copper concentrations, their biochemical findings were almost normal as were growth and development. To confirm the diagnosis,we analysed the WD gene and detected A803T/2871delC mutations in case 1 and R778L/G1035V mutations in case 2. We conclude that these children were presymptomatic WD patients. The CP level in dried blood samples from childrenaged I to 6 years appears to be a reliable marker for early detection of WD.

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Documento generato il 19/01/20 alle ore 09:44:50