JOURNAL ARTICLE

Early‐onset urinary calculi in Menkes disease: A rare presentation in a 5‐month‐old infant.

  • Published In: Pediatrics International, 2025, v. 67, n. 1. P. 1 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Kimura, Eriko; Hada, Ichiro; Watanabe, Masae; Morohashi, Tamaki; Ishige, Mika; Kurayama, Ryota; Yan, Kunimasa 3 of 3

Abstract

The article focuses on a case study of a 5-month-old male infant diagnosed with Menkes disease, a genetic disorder affecting copper metabolism. The infant presented with developmental delays, dysmorphic features, and significant laboratory findings, including low serum copper levels. Notably, the patient developed bilateral kidney stones, a rare occurrence in Menkes disease, which was attributed to infection-induced calculi and potential hypercalciuria due to tubular dysfunction. The case highlights the importance of monitoring and managing urological complications in patients with Menkes disease to prevent severe outcomes. [Extracted from the article]

Additional Information

  • Source:Pediatrics International. 2025/01, Vol. 67, Issue 1, p1
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2025
  • ISSN:1328-8067
  • DOI:10.1111/ped.70292
  • Accession Number:190445341
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