Background: Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal resistance to arginine vasopressin, most commonly caused by pathogenic variants in the AVPR2 gene. While X-linked NDI classically affects males, heterozygous females may exhibit variable clinical expression. Certain AVPR2 variants are associated with partial NDI and milder phenotypes. Methods: We conducted a retrospective family study of a multigenerational Greek pedigree with suspected hereditary NDI. Cli
X-linked Nephrogenic Diabetes Insipidus Associated with the AVPR2 c.964C>T (p.Pro322Ser) Variant: A Family Case Series
Kalliopi Vardaki·Kostas Stylianou·Eleni Drosataki·Christos Pleros·Ariadni Androvitsanea·Dimitra Lygerou·Eleftheria-Kleio Dermitzaki·Andreas Antonakis·Konstantina Kydonaki·Ioannis Petrakis
