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Peer-reviewedCC BYGenes

Genetic Insights into Pediatric Polycystic Kidney Disease and Overlapping Ciliopathies: A Narrative Review.

  • Valeria Chirico1
  • Filippo Tripodi1
  • Fabiola Cassaro2
  • Antonio Lacquaniti3
  • Salvatore Arena4
  • Carmelo Romeo4
  • Roberto Chimenz1
4 affiliations
  1. 1Pediatric Nephrology and Dialysis Unit, Department of Human Pathology of Adult and Childhood "Gaeta-no Barresi", University of Messina, 98124 Messina, Italy.
  2. 2Department of Biomedical and Dental Sciences and Morpho-functional Imaging, University of Messina, 98124 Messina, Italy.
  3. 3Nephrology and Dialysis Unit, Department of Internal Medicine, Papardo Hospital, 98158 Messina, Italy.
  4. 4Unit of Pediatric Surgery, Department of Human Pathology of Adult and Childhood "Gaetano Barresi", University of Messina, 98124 Messina, Italy.
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Abstract

Pediatric cystic kidney diseases lie at the intersection of autosomal dominant polycystic kidney disease (ADPKD) and a broad spectrum of ciliopathies. The pediatric phenotype often reflects a spectrum that includes ARPKD-like presentations, nephronophthisis-related disease, Joubert syndrome-associated kidney involvement, Bardet-Biedl syndrome, and other ciliopathies that can mimic or overlap with PKD. While ADPKD is traditionally attributed to pathogenic variants in PKD1 and PKD2, the widespread deployment of next-generation sequencing has uncovered causal variants in novel loci, including GANAB (~0.3%), DNAJB11 (~0.1%), ALG5, ALG9, and recently, IFT140 and NEK8. This review outlines the expanding genetic and clinical landscape of ADPKD, integrating recent cohort data and molecular insights. We discuss radiologically atypical presentations, overlapping syndromic ciliopathies, and the mechanisms of metabolic reprogramming and primary ciliary dysregulation in cyst pathogenesis. Recent milestones in clinical trials and emerging therapeutic strategies, including perspectives on early risk stratification before the transition to adulthood, are also evaluated. Ultimately, this review emphasizes the necessity of gene-based classifications and precise genotype-phenotype correlations, aligned with the 2025 KDIGO Clinical Practice Guideline for ADPKD, to optimize risk stratification and advance precision medicine in the clinical management of ADPKD.

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Cite

BibTeXRIS
BibTeX
@article{chirico2026genetic,
  title = {{Genetic Insights into Pediatric Polycystic Kidney Disease and Overlapping Ciliopathies: A Narrative Review.}},
  author = {Valeria Chirico and Filippo Tripodi and Fabiola Cassaro and Antonio Lacquaniti and Salvatore Arena and Carmelo Romeo and Roberto Chimenz},
  journal = {Genes},
  year = {2026},
  month = oct,
  doi = {10.3390/genes17101252},
  url = {https://europepmc.org/article/MED/42938368},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Genetic Insights into Pediatric Polycystic Kidney Disease and Overlapping Ciliopathies: A Narrative Review.
AU  - Valeria Chirico
AU  - Filippo Tripodi
AU  - Fabiola Cassaro
AU  - Antonio Lacquaniti
AU  - Salvatore Arena
AU  - Carmelo Romeo
AU  - Roberto Chimenz
PY  - 2026
DA  - 2026/10/10
JO  - Genes
DO  - 10.3390/genes17101252
UR  - https://europepmc.org/article/MED/42938368
AB  - Pediatric cystic kidney diseases lie at the intersection of autosomal dominant polycystic kidney disease (ADPKD) and a broad spectrum of ciliopathies. The pediatric phenotype often reflects a spectrum that includes ARPKD-like presentations, nephronophthisis-related disease, Joubert syndrome-associated kidney involvement, Bardet-Biedl syndrome, and other ciliopathies that can mimic or overlap with PKD. While ADPKD is traditionally attributed to pathogenic variants in PKD1 and PKD2, the widespread deployment of next-generation sequencing has uncovered causal variants in novel loci, including GANAB (~0.3%), DNAJB11 (~0.1%), ALG5, ALG9, and recently, IFT140 and NEK8. This review outlines the expanding genetic and clinical landscape of ADPKD, integrating recent cohort data and molecular insights. We discuss radiologically atypical presentations, overlapping syndromic ciliopathies, and the mechanisms of metabolic reprogramming and primary ciliary dysregulation in cyst pathogenesis. Recent milestones in clinical trials and emerging therapeutic strategies, including perspectives on early risk stratification before the transition to adulthood, are also evaluated. Ultimately, this review emphasizes the necessity of gene-based classifications and precise genotype-phenotype correlations, aligned with the 2025 KDIGO Clinical Practice Guideline for ADPKD, to optimize risk stratification and advance precision medicine in the clinical management of ADPKD.
SN  - 2073-4425
ER  -