Identification of a new therapy for polycystic kidney disease (PKD)
نویسندگان
چکیده
منابع مشابه
a new pkd-1 mutation discovered in a black african woman with autosomal polycystic kidney disease
autosomal polycystic kidney disease (adpkd) is a genetic disorder with two causal pkd-1 and pkd-2. genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in african populations. we report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to adpkd. molecular genetic testing found a del...
متن کاملA New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease
Autosomal polycystic kidney disease (ADPKD) is a genetic disorder with two causal PKD-1 and PKD-2. Genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in African populations. We report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to ADPKD. Molecular genetic testing found a del...
متن کاملLong-term rapamycin therapy in the Han:SPRD rat model of polycystic kidney disease (PKD).
BACKGROUND Short-term studies have demonstrated that rapamycin or everolimus treatment decreases cyst formation and improves renal function in animal models of polycystic kidney disease (PKD). Autosomal dominant polycystic kidney disease (ADPKD) patients would likely require life-long treatment with rapamycin. METHODS Male Han:SPRD rats with PKD (Cy/+) were treated with rapamycin (0.2 mg/kg/d...
متن کاملThe structure of a PKD domain from polycystin-1: implications for polycystic kidney disease.
Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the result of mutations in the PKD1 gene. The PKD1 gene codes for a large cell-surface glycoprotein, polycystin-1, of unknown function, which, based on its predicted domain structure, may be involved in protein-protein and protein-carbohydrate interactions. Approximately 30% of polycystin-1 consists of 16 copies of a novel p...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
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ژورنال
عنوان ژورنال: Nefrología
سال: 2019
ISSN: 0211-6995
DOI: 10.1016/j.nefro.2018.12.014