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Titolo:
ETIOPATHOLOGY AND GENETIC-BASIS OF NEONATAL DIABETES
Autore:
SHIELD JPH; GARDNER RJ; WADSWORTH EJK; WHITEFORD ML; JAMES RS; ROBINSON DO; BAUM JD; TEMPLE IK;
Indirizzi:
INST CHILD HLTH,ST MICHAELS HILL BRISTOL BS2 8BJ AVON ENGLAND SALISBURY DIST HOSP,WESSEX REG GENET LAB SALISBURY WILTS ENGLAND DUNCAN GUTHRIE INST MED GENET GLASGOW G3 8SJ LANARK SCOTLAND PRINCESS ANNE HOSP,WESSEX CLIN GENET SERV SOUTHAMPTON HANTS ENGLAND
Titolo Testata:
Archives of Disease in Childhood
fascicolo: 1, volume: 76, anno: 1997,
pagine: 39 - 42
SICI:
0003-9888(1997)76:1<39:EAGOND>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
MELLITUS; CHROMOSOME-6; CELLS; AGE;
Keywords:
NEONATAL DIABETES; UNIPARENTAL ISODISOMY; CHROMOSOME 6; TYPE 2 DIABETES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
J.P.H. Shield et al., "ETIOPATHOLOGY AND GENETIC-BASIS OF NEONATAL DIABETES", Archives of Disease in Childhood, 76(1), 1997, pp. 39-42

Abstract

A British Paediatric Association Surveillance Unit(star) study of neonatal diabetes determined a national incidence of 1 in 400 000 live births. Additional cases of transient neonatal diabetes were collected retrospectively. Most cases were of low birthweight at term: none had evidence of an autoimmune aetiopathogenesis. The median requirement forexogenous insulin treatment was three months. A significant number ofcases developed type 2 diabetes in later life. Three of the 11 cases were found to have paternal uniparental isodisomy of chromosome 6. A further patient carried an unbalanced duplication of 6q 22-23, inherited from the father, which localised a potentially imprinted gene for diabetes to this region. The fact that low birthweight predisposes to type 2 diabetes in later life is well established, but a genetic defect that may relate both to intrauterine growth failure and the development of type 2 diabetes in later life has now been identified.

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Documento generato il 26/09/20 alle ore 16:13:34