Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Very-early-onset autosomal dominant polycystic kidney disease coexisting with congenital adrenal hyperplasia in a newborn: a case report

  • Chang Kim (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Hwa Young Kim (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Young Hwa Jung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Chang Won Choi (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Jaehyun Kim (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ji Hyun Kim (Department of Pediatrics, Seoul National University College of Medicine)
  • Received : 2026.04.30
  • Accepted : 2026.06.01
  • Published : 2026.06.30
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Abstract

This case report describes a newborn diagnosed with very-early-onset autosomal dominant polycystic kidney disease (VEO-ADPKD) and congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The patient presented with prenatally detected kidney cysts and exhibited clinical and laboratory features consistent with salt-wasting, including markedly elevated 17-hydroxyprogesterone levels, requiring treatment with hydrocortisone, fludrocortisone, and sodium chloride. Genetic analysis revealed a de novo truncating variant in PKD1 and two variants in CYP21A2. Hypertension developed at 3 years and 7 months despite unchanged steroid replacement doses, requiring antihypertensive treatment, and resolved after mineralocorticoid dose reduction. This case highlights the competing therapeutic demands of concurrent salt-wasting CAH and VEO-ADPKD, underscoring the importance of early genetic evaluation and integrated multidisciplinary surveillance.

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Acknowledgement

This work was supported by grants 2019-ER7304-00, 2019-ER7304-01, 2019-ER7304-02, and 2022-ER0703-00, 2022-ER0703-01, 2022-ER0703-02, and 2025-ER0704-00 from the National Institute of Health research project.

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