Novel Treatments for Polycystic Kidney Disease
نویسندگان
چکیده
منابع مشابه
Novel treatments of autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is considered the most common inherited form of kidney disease across all ethnic types (1–3). Present understanding holds that mutations of responsible genes, either PKD1 or PKD2, occur during embryogenesis and variably combine with “second hit” mutationswithin renal tubular epithelial cells that alter the intracellular level of polycystins, ...
متن کاملNew treatments for autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and results from mutations in PKD1 or PKD2. Cyst initiation and expansion arise from a combination of abnormal cell proliferation, fluid secretion and extracellular matrix defects and results in kidney enlargement and interstitial fibrosis. Since its first description over 200 years ago, ADPKD has b...
متن کاملA Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
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...
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ژورنال
عنوان ژورنال: Translational Science of Rare Diseases
سال: 2019
ISSN: 2214-6490,2214-6512
DOI: 10.3233/trd-190040