KIREPORTS

Next-generation sequencing (NGS) is transforming how we diagnose autosomal dominant polycystic kidney disease (ADPKD), particularly in atypical or unclear cases. While most diagnoses rely on imaging and family history, genetic testing offers critical insights into prognosis, mutation type, and family planning. This evolving tool helps unravel diagnostic uncertainty and supports more precise, personalized care in ADPKD.

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder caused by PKD1/PKD2 mutations, leading to progressive cyst growth and kidney decline. This blog reviews key disease mechanisms and highlights strategies to slow progression, including strict blood pressure control, tolvaptan therapy, and comprehensive management of modifiable risk factors.

Written by Elba Medina Reviewed by Brian Rifkin;Sophia Ambruso Today, current methods for measuring kidney function, due to several critical limitations, need to be reimagined. In the  reimagining Kidney Function Assessment Workshop , organized by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), experts met to deliberate current limitations and potential advances in the quantification of kidney function. Read the  executive summary  and watch the