Urological Problems in Patients with Menkes Disease.
ATP7A Gene
Chronic Kidney Disease
Menkes Disease
Urinary Bladder Diverticula
Urological Complication
Journal
Journal of Korean medical science
ISSN: 1598-6357
Titre abrégé: J Korean Med Sci
Pays: Korea (South)
ID NLM: 8703518
Informations de publication
Date de publication:
07 Jan 2019
07 Jan 2019
Historique:
received:
04
08
2018
accepted:
11
08
2018
entrez:
9
1
2019
pubmed:
9
1
2019
medline:
13
4
2019
Statut:
epublish
Résumé
Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and characteristic "kinky" hair. In addition, various types of urological complications are frequent in MD because of underlying connective tissue abnormalities. In this study, we studied the clinical features and outcomes of MD, focusing on urological complications. A total of 14 unrelated Korean pediatric patients (13 boys and 1 girl) with MD were recruited, and their phenotypes and genotypes were analyzed by retrospective review of their medical records. All the patients had early-onset neurological deficit, including developmental delay, seizures, and hypotonia. The girl patient showed normal serum copper and ceruloplasmin levels as well as milder symptoms. Mutational analysis of the Urologic problems occurred frequently in MD, with bladder diverticula being the most common. Therefore, urological imaging studies and appropriate management of urological complications, which may prevent or reduce the development of urinary tract infections and renal parenchymal damage, are required in all patients with MD.
Sections du résumé
BACKGROUND
BACKGROUND
Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and characteristic "kinky" hair. In addition, various types of urological complications are frequent in MD because of underlying connective tissue abnormalities. In this study, we studied the clinical features and outcomes of MD, focusing on urological complications.
METHODS
METHODS
A total of 14 unrelated Korean pediatric patients (13 boys and 1 girl) with MD were recruited, and their phenotypes and genotypes were analyzed by retrospective review of their medical records.
RESULTS
RESULTS
All the patients had early-onset neurological deficit, including developmental delay, seizures, and hypotonia. The girl patient showed normal serum copper and ceruloplasmin levels as well as milder symptoms. Mutational analysis of the
CONCLUSION
CONCLUSIONS
Urologic problems occurred frequently in MD, with bladder diverticula being the most common. Therefore, urological imaging studies and appropriate management of urological complications, which may prevent or reduce the development of urinary tract infections and renal parenchymal damage, are required in all patients with MD.
Identifiants
pubmed: 30618512
doi: 10.3346/jkms.2019.34.e4
pmc: PMC6318444
doi:
Substances chimiques
ATP7A protein, human
EC 7.2.2.8
Copper-Transporting ATPases
EC 7.2.2.8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e4Commentaires et corrections
Type : ErratumIn
Déclaration de conflit d'intérêts
Disclosure: The authors have no potential conflicts of interest to disclose.
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