Two members of a family previously classified as type 1 von Willebrand disease (VWD), showed a quantitative defect in von Willebrand factor (VWF) antigen and ristocetin cofactor activity and an abnormal capacity of VWF to bind FVIII. Sequencing of the VWF gene region coding for the FVIII binding domain revealed the most frequent type 2N mutation: a single nucleotide change (G2811A) in exon 20, resulting in substitution of glutamine (Gln) for arginine (Arg) 91 in the mature VWF protein in one allele. The other allele contained a cytosine deletion (2680delC) in exon 18, introducing a premature stop codon at position 79 (Val79X) which produced a quantitative defect in VWF levels. The Arg91Gln defect is usually not evident in heterozygotes; however, in these patients it was expressed due to the lack of VWF production from the other allele. This is the first report of type 2N VWD in Italy.
ObjectiveTo report our experience of assessing children with chronic voiding dysfunction (>6 months’ duration) using a minimal urodynamic evaluation, and the management of detrusor‐sphincter dyscoordination (DSdc) using pelvic floor biofeedback.Patients and methodsFrom 1994 to 1997, 120 children (mean age 7.5 years) with three predominant and associated symptoms were referred to one urologist; they had nocturnal enuresis (28 children), urge incontinence (42) or urinary tract infection (50). All patients were assessed by urinary culture, renal ultrasonography and a minimal urodynamic evaluation, i.e. urinary flowmetry with sphincter electromyography (EMG) using perineal surface electrodes. If they had urinary tract infection and/or renal dilatation, they underwent voiding cysto‐urethrography. In children with DSdc, urinary training with frequent voiding was instituted initially, with subsequent pelvic floor biofeedback exercises if the improvement was deemed unsatisfactory.ResultsDSdc was diagnosed in 33 children (28%), none of whom had isolated nocturnal enuresis. Pelvic floor biofeedback was undertaken by 15 children (12 girls and three boys); it was well accepted because it was administered as a computer game. In all affected patients the DSdc resolved on EMG and there was a significant clinical improvement. Vesico‐ureteric reflux was detected in 24 patients, associated with DSdc in 10. The reflux resolved spontaneously on antibiotic prophylaxis in six children and after urinary re‐education in four.ConclusionA minimal urodynamic evaluation seems to be useful in the diagnosis of DSdc which caused urinary tract infection and/or bladder overactivity. The results with pelvic floor biofeedback were excellent in these children.
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