Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

Kidney Int Rep. 2022 Jan 8;7(4):895-898. doi: 10.1016/j.ekir.2021.12.027. eCollection 2022 Apr.

Claudia Izzi^{1

2}, Chiara Dordoni^{1

2}, Elisa Delbarba¹, Cinzia Mazza³, Gianfranco Savoldi³, Laura Econimo¹, Roberta Cortinovis¹, Letizia Zeni^{1

4}, Eva Martin⁵, Federico Alberici¹, Francesco Scolari¹

¹ Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili, Brescia, Italy.
² Medical Genetics Clinic, Department of Obstetrics and Gynecology, ASST-Spedali Civili, Brescia, Italy.
³ Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy.
⁴ Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy.
⁵ Radiology Unit, Montichiari Hospital, ASST-Spedali Civili, Brescia, Italy.

No abstract available

Keywords: PKD1; PKD2; PKHD1; autosomal dominant polycystic kidney disease; complex genotype; noncoding region.