Fetal polycystic kidney disease: Pathological overview
نویسندگان
چکیده
منابع مشابه
Dilemma of Fetal Autosomal Dominant Polycystic Kidney Disease, a Disease Rare to Present in Fetal Life!
Prenatal presentation of fetal ADPKD is rare, however the disease is seen to present in fetal life also. We realize that ADPKD has varied presentations. It can present as isolated enlarged echogenic kidneys with or without any cystic change in fetal life or any decline in renal function. Their presence in fetal life makes a difficult situation to explain the parents the uncertain risk of progre...
متن کاملPolycystic 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 کاملPolycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
Polycystic kidney disease 1 (PKD1) is the major locus of the common genetic disorder autosomal dominant polycystic kidney disease. We have studied PKD1 mRNA, with an RNase protection assay, and found widespread expression in adult tissue, with high levels in brain and moderate signal in kidney. Expression of the PKD1 protein, polycystin, was assessed in kidney using monoclonal antibodies to a r...
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ژورنال
عنوان ژورنال: Journal of the Scientific Society
سال: 2013
ISSN: 0974-5009
DOI: 10.4103/0974-5009.115481