Autosomal dominant polycystic kidney disease: neoplasia in disguise?
1997; Oxford University Press; Volume: 12; Issue: 6 Linguagem: Inglês
10.1093/ndt/12.6.1089
ISSN1460-2385
Autores Tópico(s)Renal Diseases and Glomerulopathies
ResumoGenetic diseases are unique because the underlining Considerable variation is seen in these studies, presumdefect (the mutated gene/protein) can be identified and ably reflecting the specificities of the antibodies and studied even if the pathophysiology of the disorder the preservation, fixation and pre-treatment of tissue. is not understood. In this way our knowledge However, some consensus is evident with higher expresof autosomal dominant polycystic kidney disease sion generally seen in foetal than in adult tissue. In the ( ADPKD) has greatly increased over the last couple foetus tubular epithelial cells stain L, with evidence of of years. The major gene, PKD1 (accounting for 85% expression also in the ureteric bud and the S and of ADPKD cases) was identified in 1994 [1 ] and fully comma shaped bodies of the developing nephron. characterized in the following year [2,3]. Over the past Staining of regions of the Bowman’s capsule has also 12 months the rate of progress has continued with the been described with some studies showing tuft identification of a second gene, PKD2 (responsible for glomerular staining [7,10]. In the adult expression is most of the remaining cases), clues to the mechanism probably more localized to the collecting duct with of disease revealed, and localization of the PKD1 less staining of proximal tubules. The subcellular localprotein, polycystin. ization of polycystin is less clear. Some staining studies
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