More dissimilarities than affinities between DNAJB11-PKD and ADPKD.

ABSTRACT:

Background

Polycystic kidney diseases (PKD) are an important cause of chronic kidney disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to PKD1 or PKD2 mutations is the most common form, but other genes can be responsible for ADPKD and its phenocopies. Among them, a form of atypical ADPKD caused by DNAJB11 mutations (DNAJB11-PKD) has been recently described.

Methods

We retrospectively recruited a cohort of 27 patients from six different families sharing common ancestries and harboring the same DNAJB11 mutation (c.100C>T, p.Arg34*) and we compared it with a cohort of 42 typical ADPKD patients.

Results

DNAJB11-PKD patients show small/normal-sized kidneys, with significantly smaller cysts and a slower progression to end-st

SUBMITTER: Pisani I 

PROVIDER: S-EPMC9155219 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature