Cistogênese e a expressão das policistinas nos rins policísticos / Cystogenesis and polycystin expression in polycystic kidneys
Rev. HCPA & Fac. Med. Univ. Fed. Rio Gd. do Sul
;
26(3): 46-50, 2006.
Article
in Portuguese
| LILACS
| ID: lil-691674
RESUMO
A doença renal policística do adulto é uma desordem genética de caráter autossômicodominante, caracterizada pelo progressivo desenvolvimento e crescimento de cistos renais,que podem levar à doença renal terminal durante a fase adulta do indivíduo. Outrasmanifestações clínicas associadas incluem cistos hepáticos e pancreáticos, hipertensão,aneurismas cerebrais e alterações cardiovasculares. Aspectos celulares e moleculares dosmecanismos de cistogênese envolvem proliferação e apoptose celular, remodelamento damatriz extracelular, secreção e acúmulo de líquidos. Geneticamente heterogênea, na maioriados casos (~ 85%) são mutações no gene PKD1, localizado no cromossomo 16p13.3, como segundo gene, PKD2, localizado nos intervalos do cromossomo 4q13-q23, respondendopor 15% de mutações, ambos já seqüenciados e caracterizados, ocorrendo ainda um terceirogene, PKD3, porém ainda pouco estudado. Existem evidências da interação comum dasproteínas policistinas 1 e 2, associadas com proteínas ciliares em rotas de eventos deadesões extracelulares e transportes iônicos, possibilitando a regulação do fluxo de Cl- eCa2+ transmembrana.
ABSTRACT
Adult polycystic kidney disease is an autosomal dominant genetic disorder, characterizedby progressive development and growth of renal cysts, which may lead to terminal renalfailure during adulthood. Other associated clinical manifestations include hepatic andpancreatic cysts, hypertension, cerebral aneurysms and cardiovascular disorders. Cellularand mononuclear aspects of the mechanisms of cytogenesis comprehend cellular proliferationand apoptosis, remodeling of the extracellular matrix, secretion and accumulation of fluids.This disease is genetically heterogeneous; in most cases (approximately 85%), the geneinvolved is PKD1, which is located on chromosome 16p13.3. In the remaining cases (15%),the disease is caused by mutational changes in another gene (PKD2), which is located atchromosome intervals 4q13-q23. Both genes have been sequenced and characterized. Thereis also a third gene, PKD3, which has been little studied. There is evidence of the commoninteraction of polycystins 1 and 2, associated with ciliary proteins in pathways of extracellularadhesion and ionic transportation events, which promotes the regulation of Cl- andtransmembrane Ca2+ flow.
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Index:
LILACS (Americas)
Main subject:
Polycystic Kidney, Autosomal Dominant
/
Kidney Diseases
/
Molecular Biology
Limits:
Adult
Language:
Portuguese
Journal:
Rev. HCPA & Fac. Med. Univ. Fed. Rio Gd. do Sul
Journal subject:
Medicine
Year:
2006
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal do Rio Grande do Sul/BR
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