J Korean Med Sci.  2019 Jan;34(1):e4. 10.3346/jkms.2019.34.e4.

Urological Problems in Patients with Menkes Disease

Affiliations
  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@snu.ac.kr
  • 2Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea.
  • 3Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
  • 4Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
  • 5Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
  • 6Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.

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.

Keyword

ATP7A Gene; Chronic Kidney Disease; Menkes Disease; Urinary Bladder Diverticula; Urological Complication

MeSH Terms

Ceruloplasmin
Connective Tissue
Copper
Diverticulum
Female
Follow-Up Studies
Genotype
Hair
Humans
Medical Records
Menkes Kinky Hair Syndrome*
Metabolism
Muscle Hypotonia
Phenotype
Renal Insufficiency, Chronic
Retrospective Studies
Seizures
Urinary Bladder
Urinary Tract Infections
Ceruloplasmin
Copper
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