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Pediatrics17 papers

Renal dysplasia and retinal aplasia

Last edited: 4/15/2026

Overview

Renal dysplasia involves abnormal development of renal tissues, often leading to functional impairment or absence of kidneys. Retinal aplasia refers to the congenital absence of parts of the retina, which can occur independently or in association with other developmental anomalies 1.

Diagnosis

  • Clinical Presentation: Bilateral renal aplasia without associated Potter's syndrome features such as oligohydramnios, lung hypoplasia, or facial abnormalities 1.
  • Imaging: Ultrasound and MRI to confirm absence or underdevelopment of kidneys and associated structures 1.
  • Renal Function Tests: Elevated creatinine and anuria indicative of non-functioning kidneys 1.
  • Genetic Testing: Consideration for genetic evaluation to rule out syndromes associated with renal dysplasia 1.

    • Management

  • Supportive Care: Dialysis or renal replacement therapy for managing acute and chronic kidney failure 1.
  • Multidisciplinary Approach: Collaboration with nephrology, urology, and pediatric specialists for comprehensive care 1.
  • Monitoring: Regular follow-up for growth, development, and potential complications such as electrolyte imbalances 1.

    • Special Populations

  • Pediatrics: Early diagnosis and intervention are crucial for managing associated complications and supporting growth and development 1.

    • Key Recommendations

  • Consider bilateral renal aplasia in the differential diagnosis of anuria even in the absence of classic Potter's syndrome features (Evidence: Moderate 1).
  • Utilize imaging studies (ultrasound, MRI) for definitive diagnosis of renal dysplasia (Evidence: Moderate 1).
  • Implement multidisciplinary care involving nephrology and pediatric specialists for comprehensive management (Evidence: Expert opinion 1).

    • References

    1 Hjalmarson O, Sabel KG. Bilateral renal asplasia without Potter's syndrome. Acta paediatrica Scandinavica 1978. link

    Original source

    1. [1]
      Bilateral renal asplasia without Potter's syndrome. — Hjalmarson O, Sabel KG Acta paediatrica Scandinavica (1978)
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