Urological Problems in Patients with Menkes Disease

Area of Science:

• Genetics and rare diseases
• Pediatric nephrology
• Metabolic disorders

Background:

• Menkes disease (MD) is a rare X-linked disorder affecting copper metabolism.
• It causes neurodegeneration, connective tissue issues, and characteristic "kinky" hair.
• Urological complications are common in MD due to connective tissue abnormalities.

Purpose of the Study:

• To investigate the clinical features and outcomes of Menkes disease.
• To specifically focus on the prevalence and characteristics of urological complications in MD patients.

Main Methods:

• Retrospective analysis of 14 unrelated Korean pediatric patients with MD.
• Phenotypic and genotypic analysis, including ATP7A gene sequencing.
• Review of medical records for clinical features and urological evaluations.

Main Results:

• All patients exhibited early-onset neurological deficits.
• Bladder diverticula were the most frequent urological complication (57.1% of all patients).
• Four patients developed stage II chronic kidney disease; urological imaging was often prompted by urinary tract infections.

Conclusions:

• Urological problems, particularly bladder diverticula, are frequent in Menkes disease.
• Routine urological imaging and management are essential for MD patients.
• Proactive management can prevent or mitigate urinary tract infections and renal damage.