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Acrorenal syndrome associated with visual defect

A A al Salloum1, S A al Rasheed, M A al Husain

  • 1Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Pediatric Nephrology (Berlin, Germany)
|December 1, 1996
PubMed
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A 5-year-old boy with limb deformities and renal failure due to oligomeganephronia and renal hypoplasia exemplifies acrorenal syndrome. He also presented with a previously unreported severe visual defect from pigmentary retinopathy.

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Ophthalmology

Background:

  • Acrorenal syndrome is a rare disorder characterized by limb abnormalities and kidney malformations.
  • Oligomeganephronia and renal hypoplasia are specific kidney conditions that can lead to renal failure.
  • Early diagnosis and comprehensive management are crucial for affected children.

Observation:

  • This report details a 5-year-old boy with severe limb deformities and end-stage renal disease.
  • Clinical, biochemical, radiological, and histological data were collected and analyzed.
  • The patient exhibited features consistent with acrorenal syndrome.

Findings:

  • The patient's renal failure was attributed to oligomeganephronia and renal hypoplasia.
  • A novel finding in this case was a severe visual impairment caused by pigmentary retinopathy.

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  • This presentation expands the known clinical spectrum of acrorenal syndrome.

    • Implications:

    • This case highlights the importance of thorough ophthalmological evaluation in patients with acrorenal syndrome.
    • Understanding the full phenotypic variability is essential for accurate diagnosis and genetic counseling.
    • Further research may elucidate the genetic underpinnings and potential therapeutic targets for this complex syndrome.