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Related Experiment Videos

[Denys-Drash syndrome: a case report].

Barbara Puczko-Nogal1, Paweł Nogal, Wiesława Bilińska

  • 1Klinika Nefrologii i Dializoterapii Instytutu Centrum Zdrowia Matki Polki w Łodzi.

Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego
|July 19, 2003
PubMed
Summary

Denys-Drash syndrome, a rare cause of nephrotic syndrome in newborns, presents with kidney failure and ambiguous genitalia. This case highlights the rapid progression and fatal outcome in an infant with this genetic disorder.

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Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Developmental Biology

Background:

  • Nephrotic syndrome (NS) is uncommon in infants under one year old.
  • Denys-Drash syndrome is a rare genetic disorder characterized by early-onset nephrotic syndrome, Wilms tumor, and male pseudohermaphroditism.
  • Early diagnosis and management are crucial for improving outcomes in pediatric kidney diseases.

Observation:

  • A newborn with female external genitalia but a 46XY karyotype presented with signs of nephrotic syndrome, including massive proteinuria, hypoalbuminemia, and hypercholesterolemia.
  • Renal biopsy revealed diffuse mesangial fibrosis, indicating significant kidney damage.
  • The infant experienced rapid progression to end-stage renal disease within weeks.

Findings:

  • The patient was diagnosed with Denys-Drash syndrome based on clinical presentation and genetic findings.

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  • Autopsy confirmed diffuse renal fibrosis and the presence of testicular structures in the abdominal cavity.
  • The rapid and severe course of the disease led to a fatal outcome at 102 days of age.

    • Implications:

    • This case underscores the importance of recognizing Denys-Drash syndrome in newborns with both nephrotic syndrome and ambiguous genitalia.
    • The rapid progression highlights the aggressive nature of the renal disease in this syndrome.
    • Understanding the genetic and pathological basis of Denys-Drash syndrome is vital for potential future therapeutic strategies and genetic counseling.