[Autosomal dominant polycystic kidney disease in infancy]

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E Kuwertz-Bröking1, H Rabe, B Grande

  • 1Kinderklinik der Westfälischen Wilhelms-Universität Münster.

Klinische Padiatrie
|September 1, 1991
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) can cause severe hypertension in infants. Early family screening is crucial for diagnosing and treating high blood pressure in ADPKD patients.

Area of Science:

  • Nephrology
  • Pediatric Nephrology
  • Medical Genetics

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder.
  • ADPKD is characterized by the development of numerous cysts in the kidneys.
  • Hypertension is a frequent complication of ADPKD, particularly in adults.

Observation:

  • A 6-month-old infant presented with severe arterial hypertension attributed to polycystic kidneys.
  • Family screening identified similar kidney abnormalities in 4 adults and 5 children.
  • All affected family members were diagnosed with autosomal dominant polycystic kidney disease.

Findings:

  • The infant experienced sudden severe arterial hypertension due to polycystic kidneys.
  • Affected adults in the family exhibited elevated blood pressure.
  • Excretory kidney function remained normal in all diagnosed individuals.

Implications:

  • Early diagnosis of ADPKD through family screening is vital.
  • Prompt treatment of arterial hypertension in ADPKD can potentially improve outcomes.
  • The long-term prognosis for early-onset ADPKD remains uncertain, highlighting the need for further research.

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