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Titolo:
Polycystic kidney disease: << 30 ans apres >>
Autore:
Grunfeld, JP; Chauveau, D; Joly, D; Fonck, C; Oualim, Z;
Indirizzi:
Hop Necker, Serv Nephrol, Paris, France Hop Necker Paris FranceHop Necker, Serv Nephrol, Paris, France
Titolo Testata:
JOURNAL OF NEPHROLOGY
, volume: 12, anno: 1999, supplemento:, 2
pagine: S42 - S46
SICI:
1121-8428(199907/08)12:<S42:PKD<3A>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
SOMATIC MUTATION; PKD1; ONSET; LIVER; GENE;
Keywords:
renal cyst; liver cyst; polycystic kidney disease; genetics; intracranial aneurysm; polycystin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Grunfeld, JP Hop Necker, Serv Nephrol, Paris, France Hop Necker Paris France ecker, Serv Nephrol, Paris, France
Citazione:
J.P. Grunfeld et al., "Polycystic kidney disease: << 30 ans apres >>", J NEPHROL, 12, 1999, pp. S42-S46

Abstract

Major progress has been achieved in autosomal dominant polycystic kidney disease in the last 30 years; Progress in imaging procedures has been decisive for diagnosis (by ultasonography), management of kidney and liver complications (by CT scan), and investigation and sometimes management of intracranial aneurysms (by MRI-angiography and endovascular treatment procedures). On the other hand, progress in molecular genetics has led to the identification of PKD1 and PDK2 genes, and their respective gene products, polycystin 1 and 2. A two-hit model for cyst formation has recently been put forward. The link between the gene defects and cyst fluid formation and progression is still unknown. In addition, cystic and non-cystic lesions coexist in the disease, underlining that the primary molecular defect is located upstream of the mechanism of cyst formation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 10:59:51