Urological complications and copper replacement therapy in childhood Menkes syndrome

Abstract

Our investigation suggests that Cu therapy in patients with Menkes syndrome does not prevent the progression of urological complications; however, it might delay their worsening.

Effects of Copper Supplementation on the Structure and Content of Elements in Kidneys of Mosaic Mutant Mice

“…The presence of Cu ions in the extracellular environment, and their accumulation, enhanced the degeneration of both kidney structure and function. Similarly to mottled mice, Menkes patients accumulate copper in the kidney tissue [60,61]; little is known about the kidney histology of these patients. However, the side effects of copper therapy on the kidney structure of mosaic mutants probably simulate the effects of such therapy in human patients with Menkes disease.…”

“…As found in this work, copper administration significantly increased the lifespan of ms/−(Cu) mice, as also observed in Menkes patients treated with copper. The urological disorders of those patients, such as bladder diverticula, enlargement of the bladder and ureter, urinary tract infections, hydronephrosis, ureteropelvic junction obstruction, vesico-ureteral reflux, and cryptorchism, seem to be a consequence of a lack of activity of copper-dependent enzyme lysil oxidase but kidney disease is caused by enormously high copper concentration in the cells of this organ [10,12,[61][62][63]. Both Menkes patients treated with copper and the ms/−(Cu) mice developed urinary disorders with age [61,63].…”

Excision of massive bladder diverticula in Menkes disease

“…The bladder emptying gradually improved so that he is now voiding spontaneously with a good stream and there is minimal post-void residual volume. Zaffanello et al (2006) investigated urological complications in 57 patients with Menkes disease and found bladder diverticula in 38.4% [1]. Daly and Rabinovitch (1981) reported three patients with bladder diverticula.…”

“…Bladder diverticula are the most frequent associated urological abnormality [1]. CIC and vesicostomy have been the mainstay of management.…”

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

“…They did conclude, however, that treatment may slightly delay the worsening of the complications. 2 This article presents a case of bladder diverticula in Menkes syndrome and a review of the literature on this rare urologic condition.…”