More Dissimilarities Than Affinities Between DNAJB11-PKD and ADPKD

Overview

Journal Clin Kidney J

Publisher Oxford University Press

Specialty Nephrology

Date 2022 Jun 6

PMID 35664268

Authors

Isabella Pisani

Marco Allinovi

Viviana Palazzo

Paola Zanelli

Micaela Gentile

Maria Teresa Farina

Sara Giuliotti

Paolo Cravedi

Marco Delsante

Umberto Maggiore

Enrico Fiaccadori

Lucio Manenti

Affiliations

Soon will be listed here.

Abstract

Background: Polycystic kidney diseases (PKD) are an important cause of chronic kidney disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to or 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 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 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-stage kidney disease (ESKD) than ADPKD patients. In the DNAJB11-PKD cohort, the cystic phenotype could not be detected by ultrasound in about half of the patients, but all cases with available computed tomography/magnetic resonance scans displayed cysts. Clinically, DNAJB11-PKD patients displayed proteinuria (mostly albuminuria). Compared with ADPKD, DNAJB11-PKD patients were older and had a higher prevalence of type 2 diabetes mellitus (19% versus 0%; = 0.007) and nephrolithiasis (62% versus 29%; = 0.01), whereas the prevalence of cardiac valvular defects was lower (4% versus 51%; < 0.001).

Conclusions: Overall, clinical features of DNAJB11-PKD were more subtle compared with those of ADPKD. DNAJB11-PKD shows a unique renal and extrarenal phenotype, clinical presentation and natural history. Therefore our data support that this genetic disease is classified separately from ADPKD.

Citing Articles

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Autosomal dominant tubulointerstitial kidney disease: A review.

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