A5033044142- Genetic and Kidney Cyst Diseases
- Renal Diseases and Glomerulopathies
- Biomedical Research and Pathophysiology
- Renal and related cancers
- Cystic Fibrosis Research Advances
- CRISPR and Genetic Engineering
Yale University
2025
Critical Path Institute
2022
Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent genetic disorder, affecting over 10 million individuals worldwide. Cystic expansion typically progresses to failure and also involves liver with limited treatment options. Pathogenic variants in PKD1 or PKD2 account for 85-90% of cases. Genetic re-expression Pkd1 Pkd2 has been shown partially reverse key characteristics phenotype mice. Despite advancements understanding basis, it remains unclear whether...
Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum inherited diseases that also includes autosomal recessive disease, liver and an expanding group recessively disorders collectively termed hepatorenal fibrocystic disorders. ADPKD the most common monogenic disorder frequently leading to chronic failure with estimated prevalence 12 million people worldwide. Currently, only one drug (tolvaptan) has been approved by regulatory agencies as disease-modifying therapy for...
Inherited cystic diseases include a spectrum of disorders, such as autosomal dominant polycystic kidney disease (ADPKD), recessive (ARPKD), liver disease, and an expanding group recessively inherited collectively termed hepatorenal fibrocystic disorders. ADPKD is the most common monogenic disorder that can lead to failure, with prevalence 600,000 people in United States (1). ARPKD associated significant kidney- liver-related morbidity mortality children, >50% affected individuals progressing...