Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD
Laura Econimo, Céline Schaeffer, Letizia Zeni, R Cortinovis, Federico Alberici, Luca Rampoldi, Francesco Scolari, Claudia Izzi
Abstract
, the different mutated genes give rise to misfolded proteins leading to cellular stress and cytotoxicity. Research is now focused in better defining the underlying mechanism of fibrosis to guide therapeutic interventions. The aim of this review is to discuss how the knowledge of ADTKD has evolved in the last decades, with emphasis on the clinical features, molecular diagnosis, and pathogenic aspects of the different diseases included under the ADTKD term.
Topics & Concepts
MedicinePKD1Autosomal dominant polycystic kidney diseaseDiseaseKidney diseaseKidneyAlport syndromePathologyUrinalysisRenal functionKidney disorderBioinformaticsPolycystic kidney diseaseInternal medicineGlomerulonephritisUrinary systemBiologyRenal Diseases and GlomerulopathiesGenetic and Kidney Cyst DiseasesRenal and related cancers