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Titolo:
CYSTIC-FIBROSIS DIAGNOSED AFTER THE AGE OF 25 YEARS
Autore:
PESCATORE P; MARTEAU P; LEMIERE E; XERRI B; DENAMUR E; ELION J; MATUCHANSKY C; RAMBAUD JC;
Indirizzi:
HOP ST LAZARE,SERV HEPATOGASTROENTEROL,107BIS,RUE FAUBOURG ST DENIS F-75010 PARIS FRANCE HOP ST LAZARE,SERV HEPATOGASTROENTEROL F-75010 PARIS FRANCE HOP ROBERT DEBRE,BIOCHIM GENET LAB F-75019 PARIS FRANCE
Titolo Testata:
Gastroenterologie clinique et biologique
fascicolo: 3, volume: 18, anno: 1994,
pagine: 195 - 199
SICI:
0399-8320(1994)18:3<195:CDATAO>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
URSODEOXYCHOLIC ACID THERAPY; LIVER-DISEASE; MUTATION DELTA-F508; COMMON MUTATION; GENE; IDENTIFICATION; ADULTS; FREQUENCY;
Keywords:
CYSTIC FIBROSIS; ADULT; PANCREATIC INSUFFICIENCY; STEATOSIS; GENETICS; PROGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
41
Recensione:
Indirizzi per estratti:
Citazione:
P. Pescatore et al., "CYSTIC-FIBROSIS DIAGNOSED AFTER THE AGE OF 25 YEARS", Gastroenterologie clinique et biologique, 18(3), 1994, pp. 195-199

Abstract

We report a case of cystic fibrosis diagnosed in a 27-year-old man complaining of diarrhoea which was present for 2 years. The diagnosis was suspected upon the association of exocrine pancreatic insufficiency,massive hepatic steatosis, pulmonary infiltrates on chest radiograph,and moderate alterations of pulmonary function rests. It was confirmed by positive sweat tests. Study of the cystic fibrosis gene demonstrated a compound heterozygosity for Delta F508 deletion and for mutationW1282X. Diagnosis of cystic fibrosis after the age of 25 is a rare event and the 25 hitherto published case reports are analysed after obtention of more detailled information from the authors. The existence ofcases of rate diagnosis might be explained by genetic heterogeneity.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 07:18:23