1 Citation (Scopus)

Abstract

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: 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: 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 ATP7A gene revealed 11 different mutations in 12 patients. Bladder diverticula was the most frequent urological complication: 8 (57.1%) in the 14 patients or 8 (72.7%) in the 11 patients who underwent urological evaluation. Urological imaging studies were performed essentially for the evaluation of accompanying urinary tract infections. Four patients had stage II chronic kidney disease at the last follow-up. Conclusion: 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.

Original languageEnglish
Article numbere4
Pages (from-to)e4
JournalJournal of Korean Medical Science
Volume34
Issue number1
DOIs
StatePublished - 1 Jan 2019

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Menkes Kinky Hair Syndrome
Urinary Tract Infections
Connective Tissue
Copper
Muscle Hypotonia
Ceruloplasmin
Chronic Renal Insufficiency
Hair
Medical Records
Seizures
Genotype
Pediatrics
Phenotype

Keywords

  • ATP7A gene
  • Chronic kidney disease
  • Menkes disease
  • Urinary bladder diverticula
  • Urological complication

Cite this

@article{f224af52998440a2ac36634edb05197c,
title = "Urological problems in patients with menkes disease",
abstract = "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: 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: 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 ATP7A gene revealed 11 different mutations in 12 patients. Bladder diverticula was the most frequent urological complication: 8 (57.1{\%}) in the 14 patients or 8 (72.7{\%}) in the 11 patients who underwent urological evaluation. Urological imaging studies were performed essentially for the evaluation of accompanying urinary tract infections. Four patients had stage II chronic kidney disease at the last follow-up. Conclusion: 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.",
keywords = "ATP7A gene, Chronic kidney disease, Menkes disease, Urinary bladder diverticula, Urological complication",
author = "Kim, {Mi Young} and Kim, {Ji Hyun} and Cho, {Myung Hyun} and Choi, {Young Hun} and Kim, {Seong Heon} and Im, {Young Jae} and Kwanjin Park and Kang, {Hee Gyung} and Chae, {Jong Hee} and Cheong, {Hae Il}",
year = "2019",
month = "1",
day = "1",
doi = "10.3346/jkms.2019.34.e4",
language = "English",
volume = "34",
pages = "e4",
journal = "Journal of Korean medical science",
issn = "1011-8934",
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Urological problems in patients with menkes disease. / Kim, Mi Young; Kim, Ji Hyun; Cho, Myung Hyun; Choi, Young Hun; Kim, Seong Heon; Im, Young Jae; Park, Kwanjin; Kang, Hee Gyung; Chae, Jong Hee; Cheong, Hae Il.

In: Journal of Korean Medical Science, Vol. 34, No. 1, e4, 01.01.2019, p. e4.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Urological problems in patients with menkes disease

AU - Kim, Mi Young

AU - Kim, Ji Hyun

AU - Cho, Myung Hyun

AU - Choi, Young Hun

AU - Kim, Seong Heon

AU - Im, Young Jae

AU - Park, Kwanjin

AU - Kang, Hee Gyung

AU - Chae, Jong Hee

AU - Cheong, Hae Il

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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: 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: 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 ATP7A gene revealed 11 different mutations in 12 patients. Bladder diverticula was the most frequent urological complication: 8 (57.1%) in the 14 patients or 8 (72.7%) in the 11 patients who underwent urological evaluation. Urological imaging studies were performed essentially for the evaluation of accompanying urinary tract infections. Four patients had stage II chronic kidney disease at the last follow-up. Conclusion: 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.

AB - 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: 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: 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 ATP7A gene revealed 11 different mutations in 12 patients. Bladder diverticula was the most frequent urological complication: 8 (57.1%) in the 14 patients or 8 (72.7%) in the 11 patients who underwent urological evaluation. Urological imaging studies were performed essentially for the evaluation of accompanying urinary tract infections. Four patients had stage II chronic kidney disease at the last follow-up. Conclusion: 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.

KW - ATP7A gene

KW - Chronic kidney disease

KW - Menkes disease

KW - Urinary bladder diverticula

KW - Urological complication

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