Urological Problems in Patients with Menkes Disease
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.
| Errataetall: |
ErratumIn: J Korean Med Sci. 2019 May 27;34(20):e154. - PMID 31124329 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:34 |
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| Enthalten in: |
Journal of Korean medical science - 34(2019), 1 vom: 07. Jan., Seite e4 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kim, Mi Young [VerfasserIn] |
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| Links: |
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| Themen: |
ATP7A Gene |
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| Anmerkungen: |
Date Completed 12.04.2019 Date Revised 16.07.2022 published: Electronic-eCollection ErratumIn: J Korean Med Sci. 2019 May 27;34(20):e154. - PMID 31124329 Citation Status MEDLINE |
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| doi: |
10.3346/jkms.2019.34.e4 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM292469934 |
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| 500 | |a ErratumIn: J Korean Med Sci. 2019 May 27;34(20):e154. - PMID 31124329 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a ATP7A Gene | |
| 650 | 4 | |a Chronic Kidney Disease | |
| 650 | 4 | |a Menkes Disease | |
| 650 | 4 | |a Urinary Bladder Diverticula | |
| 650 | 4 | |a Urological Complication | |
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| 700 | 1 | |a Cho, Myung Hyun |e verfasserin |4 aut | |
| 700 | 1 | |a Choi, Young Hun |e verfasserin |4 aut | |
| 700 | 1 | |a Kim, Seong Heon |e verfasserin |4 aut | |
| 700 | 1 | |a Im, Young Jae |e verfasserin |4 aut | |
| 700 | 1 | |a Park, Kwanjin |e verfasserin |4 aut | |
| 700 | 1 | |a Kang, Hee Gyung |e verfasserin |4 aut | |
| 700 | 1 | |a Chae, Jong-Hee |e verfasserin |4 aut | |
| 700 | 1 | |a Cheong, Hae Il |e verfasserin |4 aut | |
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