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Titolo:
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - CLINICAL AND GENETIC-ASPECTS
Autore:
SESSA A; GHIGGERI GM; TURCO AE;
Indirizzi:
UO NEFROL & DIALISI,VIA C BATTISTI 23 I-20059 VIMERCATE MI ITALY RENAL UNIT VIMERCATE MI ITALY
Titolo Testata:
JN. Journal of nephrology
fascicolo: 6, volume: 10, anno: 1997,
pagine: 295 - 310
SICI:
1121-8428(1997)10:6<295:APK-CA>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
VONHIPPEL-LINDAU DISEASE; CYST FORMATION; RENAL-FAILURE; PKD1 GENE; NONSENSE MUTATION; EPITHELIAL-CELLS; INTRACRANIAL ANEURYSMS; DNA MARKERS; CPK MOUSE; POLYCYSTIC-KIDNEY-DISEASE-1 PKD1;
Keywords:
HEREDITARY KIDNEY DISEASE; ADPKD; POLYCYSTIN; RENAL CYSTOGENESIS;
Tipo documento:
Review
Natura:
Periodico
Citazioni:
181
Recensione:
Indirizzi per estratti:
Citazione:
A. Sessa et al., "AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - CLINICAL AND GENETIC-ASPECTS", JN. Journal of nephrology, 10(6), 1997, pp. 295-310

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited systemic disease caused by at least three different genes. The renal and extrarenal clinical manifestations, and the systemic complications due to cystic and non-cystic abnormalities in ADPKD patients have beenwidely investigated. Cellular and molecular aspects of cystogenetic mechanisms concern epithelial tubular cell proliferation, remodelling of extracellular matrix, fluid secretion and accumulation, and relations between cell proliferation and apoptosis. In vitro studies on cystogenesis suggest a key role of cell-to-cell or cell-to-matrix interactions. Surface proteins mediating cell-to-cell contact, such as E-cadherin (polycystin?), integrin interactions, growth factors, receptor expression, are involved in the process of differentiation of the cellular condition and of the extracellular matrix. Blocking any one of these complex mechanisms should influence the orientation and polarization ofepithelial tubular cells and should mediate the inversion of fluid secretion which ends in renal cystogenesis. ADPKD comprises at least three phenotypically indistinguishable but genetically distinct entities,caused by mutations in three autosomal genes: PKD 1 (chromosome 16P13.3) is present in about 85% of patients; PKD2 (chromosome 4q13q23) in 10%; PKD3 (unknown chromosome) in a few families. PCR-based mutation detection methods, automated DNA sequencing, and other ''functional'' methods are used to screen and analyse ADPKD patients. It is not yet known whether the mutations identified so far in PKDI and PKD2 inactivate the genes or generate an aberrant product. The products of PKD I andPKD 2 genes have been called polycystin I and 2. Polycystins are members of a family of interactive proteins involved in complex adhesive cell-cell, cell-matrix, protein-protein, and protein-carbohydrate interactions in the extracellular compartment, and are involved in the samepathway (ion channel regulator? ion channel? pore?) where mutations in only one of the simple genes (PKD3 too?) may cause the ADPKD phenotype. Genotype-phenotype correlations, in terms of disease severity and/or progression to end-stage renal disease, probably depend on other factors, both genetic and environmental (for instance: DD genotype of the ACE gene in ADPKD hypertensive patients), that might influence the clinical course and progression of ADPKD. The hypothesis of the ''two hits'' has been proposed to explain at the molecular level the focal nature of cyst formation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 03:49:17