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Congenital abnormalities in Japanese patients with Menkes disease

Yan-Hong Gu1, Hiroko Kodama, Tadaaki Kato

  • 1Department of Health Policy, National Research Institute for Child Health and Development, Tokyo, Japan. gyh@nch.go.jp

Brain & Development
|February 25, 2012
PubMed

Insights

Menkes disease (MNK) patients frequently exhibit congenital malformations (CMs), impacting survival. Early detection and management of these CMs are crucial for improving outcomes in individuals with this rare genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Research

Background:

  • Menkes disease (MNK) is a rare, X-linked recessive disorder affecting copper metabolism.
  • The incidence in Japan is approximately 2.8 per million live births.
  • Congenital malformations (CMs) are a recognized, yet not fully characterized, feature in MNK.

Purpose of the Study:

  • To investigate the prevalence and types of congenital malformations (CMs) in Japanese male patients with classical Menkes disease.
  • To explore potential correlations between CMs and ATP7A gene mutations.
  • To assess the impact of CMs on the clinical course and survival of MNK patients.

Main Methods:

  • Retrospective review of anonymized clinical data from 35 Japanese male patients with classical MNK.
  • Data collection via pediatrician's survey using medical records or summaries.
  • Statistical analysis, including Mann-Whitney U tests, to compare patient groups.

Main Results:

  • Twenty-one different CMs were observed in 14 out of 35 patients.
  • Higher arched palate was the most frequent CM, noted in five patients.
  • No significant relationship was found between CMs and ATP7A gene mutations.
  • MNK patients with CMs had a significantly lower age at death compared to those without CMs.
  • Sudden death occurred in three MNK patients with CMs, including congenital heart disease and microphallus.

Conclusions:

  • Congenital malformations are a significant clinical feature in Menkes disease patients.
  • The presence of CMs is associated with a poorer prognosis and reduced lifespan in MNK.
  • Further research is needed to understand the underlying mechanisms and management strategies for CMs in Menkes disease.

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