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  • 1
    ISSN: 1432-198X
    Keywords: Acute renal failure ; Hypoxanthineguanine and adenine phosphoribosyltransferase ; Lesch-Nyhan syndrome ; 2,8-Dihydroxyadenine ; Uric acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Acute renal failure (ARF) is not listed as a usual form of presentation in hypoxanthineguanine phosphoribosyltransferase deficiency, despite the gross uric acid overproduction in the defect. We found that a third of such patients may present in ARF when the urinary uric acid/creatinine ratio may be normal, not raised, and the defect may be suspected from the disproportionate increase in plasma uric acid. This is important in view of the potential confusion of uric acid with 2,8-dihydroxyadenine, the even more insoluble purine excreted in the other salvage enzyme disorder, adenine phosphoribosyltransferase deficiency. In that disorder, presentation in ARF is well recognised, the uric acid/creatinine ratio is also normal, but plasma urate is not raised. Our combined experience in these two disorders underlines the importance of early recognition and treatment with carefully adjusted doses of allopurinol, which may reverse or postpone renal failure.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 4 (1990), S. 178-184 
    ISSN: 1432-198X
    Keywords: Day wetting ; Diurnal enuresis ; Urge incontinence ; Unstable bladder
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract About 1% of healthy children over the age of 5 years have troublesome daytime wetting. Two-thirds of those who wet by day are reliably dry at night. The problem is more common in girls and is usually the result of urge incontinence. Although the wetting may be exacerbated by giggling and/or stress, pure giggle micturition and isolated stress incontinence are both rare. There is a strong association with bacteriuria (50% prevalence) in girls who wet by day. A potentially important relationship exists between day wetting, infection, reflux and upper tract damage, which is expressed in an extreme form in the syndromes of incoordinated voiding and progressive renal damage. Most children who wet by day have unstable bladders. Many of them adopt characteristic “holding” postures. There is an increased incidence of emotional disorder compared with children who merely wet the bed. Between 10% and 15% of children who wet by day become dry during the next 12 months. The acquisition of dryness is accelerated by eradication of bacteriuria and a sympathetic and energetic management regime, which should place responsibility on the child and result in the child voiding more frequently and completely. Reminder alarms and other behaviour therapies have proved effective. There is no satisfactory evidence for the efficacy of drugs. More complex behavioural training regimes including biofeedback are valuable for severe cases.
    Type of Medium: Electronic Resource
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