منابع مشابه
Polycystic kidney disease.
A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. The polycystin complex localizes to prim...
متن کاملBeyond polycystic kidney disease
Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndro...
متن کامل[Polycystic kidney disease].
要旨: 常染色体優性遺伝嚢胞腎(ADPKD)は 進行性の腎機能低下が主要な病態であるが, その予後は従 来いわれているように 「診断後10年で腎不全に到る」ものでもなく, 腎不全が不可避でもない. 本邦で の透析導入時平均年齢は52~56歳 であるが, 透析に移行しない者も含めると, おおよそ平均73歳で終末 期腎不全に到る. 60歳代で透析を受ける割合は約40%で あり, 本邦のADPKDの 予後は欧米よりも若干 良好である可能性がある. ADPKDの 遺伝子は第16染色体の短腕上のα-globin遺伝子の近くに存在することが確かめられてい る. この遺伝子(PKD1)に よるADPKDと, PKD1の 関与が証明されないADPKDで は, 腎機能の予 後が異なることが報告されている. 高血圧は約60%に 認められる. 嚢胞の圧迫によって腎動脈が狭細化し, レニン-ア ンギオテソシ...
متن کاملTRP channels and kidney disease: lessons from polycystic kidney disease.
Important insights in to the function of members of the TRP (transient receptor potential) channel superfamily have been gained from the identification of disease-related mutations. In particular the identification of mutations in the PKD2 gene in autosomal dominant polycystic kidney disease has revealed a link between TRP channel function, mechanosensation and the role of the primary cilium in...
متن کاملAutosomal Recessive Polycystic Kidney Disease
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...
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ژورنال
عنوان ژورنال: Wiley Interdisciplinary Reviews: Developmental Biology
سال: 2014
ISSN: 1759-7684
DOI: 10.1002/wdev.152