Excision of massive bladder diverticula in Menkes disease

Eradi, Bala; Rajimwale, Ashok

doi:10.1016/j.jpurol.2009.08.005

Cited by 5 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Bladder diverticula result in urinary stasis with a high residual urine volume, which leads to infections and further bladder dysfunction. Therefore, the main goal of management in patients with bladder diverticula is to accomplish complete bladder emptying with clean intermittent catheterization or open surgical drainage in severe cases 262728. Two of our patients underwent urological intervention.…”

Section: Discussionmentioning

confidence: 99%

Urological Problems in Patients with Menkes Disease

Kim

Cho

et al. 2019

J Korean Med Sci

View full text Add to dashboard Cite

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 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.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.

show abstract

Section: Discussionmentioning

confidence: 99%