Autosomal recessive polycystic kidney disease (ARPKD) is caused primarily by pathogenic variants in PKHD1, encoding fibrocystin/polyductin. In Cys1cpk/cpk (cpk) mice, the kidney and liver lesions closely phenocopy ARPKD.
Cys1 encodes cystin, a myristoylated protein that traffics to the primary cilium and nucleus. We recently reported the first patient with ARPKD due to a homozygous CYS1 splicing variant.
Kidney International published a clinical update in Research Highlights on 18 Feb 2026.
The item focuses on Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.
Review the original article for the full source wording and details.