title: Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up.
abstract: OBJECTIVE
  To present the long-term outcomes of appendicovesicostomy using the Mitrofanoff principle for end-stage Wolfram bladder dysfunction as an alternative to clean intermittent self-catheterization (CIC) per urethra mainly following blindness.
  
  
  METHODS
  Twelve Wolfram patients presenting with bilateral hydroureteronephrosis and advanced bladder dysfunction were included in this study. All patients were managed initially by CIC per urethra. All of these patients became blind during follow-up and were unable to perform urethral CIC independently. Out of these patients, six patients agreed to proceed to appendicovesicostomy. Appendicovesicostomy urinary diversion using the Mitrofanoff principle was performed in these six blind patients. The rest of the patients stopped CIC or performed CIC irregularly.
  
  
  RESULTS
  Severe hydroureteronephrosis and large bladders were found in all patients prior to intervention. All patients were able to conduct CIC independently through the stoma and maintained overnight bladder free drainage. In all patients with urinary diversion and CIC, the hydroureteronephrosis was reduced and renal function returned to normal. However, the non-intervention group ended with different degrees of progressive renal failure with three mortalities during the follow-up.
  
  
  CONCLUSIONS
  We suggest appendicovesicostomy as a safe and lifesaving procedure for long-term management of bladder dysfunction in Wolfram syndrome particularly after progression to blindness.
authors.affiliation: Pediatric Urology Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's, Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran (IRI).
authors.forename: Sarah
authors.initials: S
authors.lastname: Mozafarpour
authors.affiliation: Pediatric Urology Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's, Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran (IRI). Electronic address: kajbafzd@sina.tums.ac.ir.
authors.forename: Abdol-Mohammad
authors.initials: AM
authors.lastname: Kajbafzadeh
authors.affiliation: Pediatric Urology Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's, Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran (IRI).
authors.forename: Ali
authors.initials: A
authors.lastname: Mojtahed
authors.affiliation: Pediatric Urology Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's, Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran (IRI).
authors.forename: Mohammad
authors.initials: M
authors.lastname: Mojtahed
authors.affiliation: Pediatric Urology Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's, Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran (IRI).
authors.forename: Hossein
authors.initials: H
authors.lastname: Mahboubi
authors.affiliation: Pediatric Urology Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's, Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran (IRI).
authors.forename: Keivan
authors.initials: K
authors.lastname: Shalileh
mesh_terms: D000328:Adult; D001065:Appendix / Q000601:surgery; D003559:Cystostomy / Q000379:methods; D019468:Disease Management; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009404:Nephrotic Syndrome / Q000628:therapy*; D051437:Renal Insufficiency / Q000601:surgery; D054047:Surgical Stomas; D014521:Urethra / Q000601:surgery; D001743:Urinary Bladder / Q000002:abnormalities* / Q000601:surgery; D014546:Urinary Catheterization; D014547:Urinary Diversion / Q000379:methods; D013520:Urologic Surgical Procedures / Q000379:methods*; D014929:Wolfram Syndrome / Q000150:complications*
keywords: Bladder dysfunction; Diabetes insipidus; Diabetes mellitus; Mitrofanoff principle; Wolfram (DIDMOAD) syndrome