Management of Bladder Diverticula in Menkes Syndrome: A Case Report and Review of the Literature

Hebert, Kristi; Martin, Aaron

doi:10.1016/j.urology.2015.03.030

Cited by 5 publications

(1 citation statement)

References 6 publications

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“…However, because of its rarity, no consensus on the treatment of bladder diverticula in patients with MD is available. Furthermore, whether surgical treatment is warranted given the propensity of bladder diverticula to recur and the generally short expected life span of these patients remains to be elucidated 29. Therefore, surgical intervention should be considered based on the clinical condition of each patient, including the severity of urological problems, expected life expectancy, and tolerance to general anaesthesia 2930…”

Section: Discussionmentioning

confidence: 99%

Urological Problems in Patients with Menkes Disease

Kim

Cho

et al. 2019

J Korean Med Sci

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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.

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Section: Discussionmentioning

confidence: 99%