Renal cystic disease (ADPKD and ARPKD)
نویسندگان
چکیده
منابع مشابه
Ultrasonography Lesson Renal cystic disease (ADPKD and ARPKD)
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and is often encountered in the work-up of renal patients. The diagnosis is obvious in advanced stages, but may be very difficult in young individuals in whom the need to provide a correct diagnosis is particularly pressing. By ultrasonography cysts are round or oval, echolucent, thin-walled, clea...
متن کاملEmerging Therapies for Childhood Polycystic Kidney Disease
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype. In pediatric patients, the term polycystic kidney disease (PKD) commonly refers to two specific hereditary diseases, autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Remarkable progr...
متن کاملMacrophages promote polycystic kidney disease progression
Renal M2-like macrophages have critical roles in tissue repair, stimulating tubule cell proliferation and, if they remain, fibrosis. M2-like macrophages have also been implicated in promoting cyst expansion in mouse models of autosomal dominant polycystic kidney disease (ADPKD). While renal macrophages have been documented in human ADPKD, there are no studies in autosomal recessive polycystic k...
متن کاملFunctional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p....
متن کاملProstaglandin E(2) mediates proliferation and chloride secretion in ADPKD cystic renal epithelia.
Prostaglandin E(2) (PGE(2)) contributes to cystogenesis in genetically nonorthologous models of autosomal dominant polycystic kidney disease (ADPKD). However, it remains unknown whether PGE(2) induces the classic features of cystic epithelia in genetically orthologous models of ADPKD. We hypothesized that, in ADPKD epithelia, PGE(2) induces proliferation and chloride (Cl(-)) secretion, two arch...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2002
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/17.2.311