Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Autosomal dominant polycystic kidney disease in children and adolescents

  • Eunji Mun (Department of Pediatrics, Soonchunhyang University Gumi Hospital) ;
  • Hee Sun Baek (Department of Pediatrics, School of Medicine, Kyungpook National University)
  • Received : 2025.12.31
  • Accepted : 2026.02.20
  • Published : 2026.02.28
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Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder and primarily arises from mutations in either the polycystic kidney disease 1 (PKD1) or 2 (PKD2) gene. Although traditionally categorized as an adult-onset disease, cystogenesis often begins in utero, and structural changes may become evident during childhood. Although most pediatric patients with ADPKD remain asymptomatic, hypertension occurs in 20%-40% of cases, and albuminuria may also be present. Both findings represent early, treatable manifestations that can significantly influence long-term prognosis. Ultrasonography is the preferred diagnostic modality; however, genetic testing is indicated in very-early-onset or atypical cases. The cornerstone of disease management is rigorous blood pressure control using renin-angiotensin system inhibitors, along with lifestyle modifications such as sodium restriction and adequate hydration. Early diagnosis and intervention are essential for optimizing long-term clinical outcomes in pediatric patients with ADPKD. This study aimed to provide a comprehensive review of the genetics, pathophysiology, clinical manifestations, diagnosis, treatment, and future management of pediatric ADPKD.

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References

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