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More dissimilarities than affinities between DNAJB11-PKD and ADPKD

Isabella Pisani1, Marco Allinovi2, Viviana Palazzo3

  • 1Unità Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.

Clinical Kidney Journal
|June 6, 2022
PubMed

Insights

DNAJB11-PKD, a rare genetic kidney disease, presents with subtler symptoms and slower progression than typical Autosomal Dominant Polycystic Kidney Disease (ADPKD). This study highlights its unique clinical features, supporting its classification as a distinct condition.

Area of Science:

  • Nephrology
  • Genetics
  • Chronic Kidney Disease Research

Background:

  • Polycystic kidney diseases (PKD) are a significant cause of chronic kidney disease (CKD).
  • Autosomal dominant polycystic kidney disease (ADPKD) is the most common form, typically caused by PKD1 or PKD2 mutations.
  • Atypical ADPKD can arise from mutations in other genes, including a recently described form linked to DNAJB11 mutations (DNAJB11-PKD).

Purpose of the Study:

  • To characterize the distinct clinical and renal phenotypes of DNAJB11-PKD.
  • To compare the natural history and extrarenal manifestations of DNAJB11-PKD with typical ADPKD.
  • To determine if DNAJB11-PKD should be classified separately from ADPKD.

Main Methods:

  • Retrospective recruitment of 27 patients with a specific DNAJB11 mutation (c.100C>T, p.Arg34*) from six families.
  • Comparison of the DNAJB11-PKD cohort with a cohort of 42 patients diagnosed with typical ADPKD.
  • Analysis of renal imaging (ultrasound, CT/MRI), clinical data, and prevalence of comorbidities.

Main Results:

  • DNAJB11-PKD kidneys are small/normal-sized with smaller cysts and slower progression to end-stage kidney disease (ESKD) compared to ADPKD.
  • Renal cysts were not always detected by ultrasound in DNAJB11-PKD patients but were visible on CT/MRI.
  • DNAJB11-PKD patients exhibited proteinuria, were older, and had higher rates of type 2 diabetes and kidney stones, but fewer cardiac valvular defects than ADPKD patients.

Conclusions:

  • DNAJB11-PKD exhibits a unique renal and extrarenal phenotype, clinical presentation, and natural history.
  • The clinical features of DNAJB11-PKD are generally more subtle than those of ADPKD.
  • These findings support the classification of DNAJB11-PKD as a distinct genetic kidney disease separate from ADPKD.
Abstract

Keywords:
ADPKDDNAJB11chronic kidney diseasecystic kidney diseasegenetics

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