Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer?

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Ana Teixeira1, Patrick Edery2, Pierre Cochat3

  • 1Centre de Référence des Maladies Rénales Rares Néphrogenes , Hospices Civils de Lyon et Université Claude-Bernard Lyon 1 , Lyon , France ; Serviço de Pediatria , Centro Hospitalar São João , Porto , Portugal.

Clinical Kidney Journal
|May 29, 2015
PubMed

Insights

Unilateral multicystic dysplastic kidney (MCDK) is common in children. A rare case report links MCDK with Cowden disease (CD), suggesting a potential increased risk for renal cancer in pediatric patients.

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Oncology

Background:

  • Unilateral multicystic dysplastic kidney (MCDK) is a frequent congenital urinary tract anomaly in children.
  • MCDK can be isolated or associated with other renal, urinary tract, or multisystemic disorders.
  • Cowden disease (CD) is a rare autosomal-dominant disorder characterized by hamartomatous lesions across multiple organs.

Purpose of the Study:

  • To report a novel association between unilateral multicystic dysplastic kidney and Cowden disease in a pediatric patient.
  • To investigate the potential implications of this association for the risk of renal cancer.

Main Methods:

  • Case report of a 7-year-old patient.
  • Clinical evaluation and diagnostic workup for MCDK and genetic disorder.

Main Results:

  • The patient presented with unilateral MCDK and was diagnosed with Cowden disease.
  • This represents a previously undescribed association in pediatric cases.

Conclusions:

  • The co-occurrence of MCDK and CD in a child warrants further investigation.
  • This association may indicate an elevated risk of renal cancer in pediatric patients with both conditions.

Keywords:
Cowden diseasePTEN tumour suppressor genehamartomamulticystic dysplastic kidney

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