ArticleJournal of Korean medical science2019
Urological Problems in Patients with Menkes Disease.
Article in Journal of Korean medical science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 26 citations in OpenAlex.
- Review
- Severe Shock Caused by Rupture of Bladder Diverticulum in a Patient With Menkes Disease: A Case Report.Clinical case reports · 2025Article
- Elesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis.The Journal of pharmacology and experimental therapeutics · 2025Article
- Case Report: Child with Menkes syndrome complicated by bladder diverticula.Frontiers in pediatrics · 2025Article
- Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review.BMC pediatrics · 2024Review
- Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.Scientific reports · 2024Article
- Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.Molecular genetics and metabolism · 2023Article
- Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.Journal of clinical medicine · 2023Article
- Decreased Expression of theInternational journal of molecular sciences · 2022Article
- Laparoscopic bladder diverticulectomy in a child with situs inversus totalis: A case report and literature review.Frontiers in surgery · 2022Article
- Neurogenic Bowel Dysfunction in Children and Adolescents.Journal of clinical medicine · 2021Review
- Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome.Case reports in pediatrics · 2021Article
- Recurrent Urinary Tract Infections: Unraveling the Complicated Environment of Uncomplicated rUTIs.Frontiers in cellular and infection microbiology · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMenkes 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.
methodsA 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.
resultsAll 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
conclusionUrologic 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.
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