Commentaire à « Les troubles vesico-sphinctériens du syndrome de Wolfram. Analyse clinique et urodynamique à partir de 6 observations » de C. Leroux, M. Grasland, N. Turmel, F. Le Breton, C. Chesnel, C. Hentzen, G. Amarenco ; à propos d...

29 décembre 2020

Auteurs : I. Boualaoui, I. Ziani, O. Bellouki, H. El Sayegh, L. Benslimane, Y. Nouini
Référence : Prog Urol, 2020, 16, 30, 983-985


To the editors,

We read with a great interest the article entitled "Urinary disorders of Wolfram syndrome. Clinical and urodynamic analysis from 6 observations" from: C. Leroux, M. Grasland, N. Turmel, F. Le Breton, C. Chesnel, C. Hentzen, G. Amarenco, published in November 2019. Their study showed that urinary dysfunction in WOLFRAM syndrome is mainly characterized by overactive bladder and urinary retention. We would like to contribute some points of their paper.

The authors discussed the main lower urinary tract disorders in WOLFRAM syndrome. All their patients suffered from overactive bladder and urodynamic findings showed detrusor overactivity in 50% of their patients [1]. In our department, we also treated 6 cases of WOLFRAM syndrome in two Moroccan families, from 2000 to 2019, during ten years of minimal follow-up. The age of diagnosed cases at the first urologic consultation is 17±5 years. Parent's propinquity, bilateral optic nerve atrophy and sensorineural hearing loss were noticed among all these cases. Three patients were diagnosed with diabetes insipidus. Like Leroux et al., five of our patients (83%) suffered from dysuria and a clinical overactive bladder, however, we have not noticed any detrusor overactivity in the non-invasive urodynamic test (NIUD). The only patient who has no NIUD is eighteen years old. She has been treated at the age of four by a surgical vesicostomy to manage a urinary retention. Due to social and economical issues, no medical consultation has been done since the paediatric surgery. The limited medical access in some far areas, explains that the most common revealing mode of the diagnosis is the complications of renal failure. It was the case of four of our patients (66%) (Table 1).

In addition, to the therapeutic issues discussed in the study, there are two additional challenging factors which complicate the treatment of lower urinary tract manifestations in our wolfram syndrome patients. Firstly, a perfect control of urinary output may have a significant impact on limiting bladder damage. Indeed, bladder dysfunction has been not only attributed to the autonomic and degenerative damage affecting the central and peripheral nerve system but also to polyuric stretch injury due to the high urinary output of diabetes mellitus and diabetes insipidus. Furthermore, the use of desmopressin has a double interest, on the one hand, it reduces the urinary output and helps in the resolution of incontinence. On the other hand, it reduces the progression of bladder dysfunction and megacystis [2]. Secondly, the upper urinary tract distension seen in 50% of Leroux et al. study and 100% of our patients, may persist after the treatment of diabetes insipidus by desmopressin and lower urinary tract symptoms by clean intermittent self-catheterization, anticholinergics or intra-detrusor injection of botulinum toxin [1]. This fact suggests that there is an own upper urinary tract damage when the neurodegenerative process reaches ureteric and pelvic innervation [3].

Urological manifestations might not be obvious at the time of diagnosis unless the first urological work up. Careful urological follow-up and close monitoring are the key points enabling to avoid consequent disorders.

Disclosure of interest

The authors declare that they have no competing interest.

Table 1 - Characteristics of our patients.
Cases  Age at the diagnosis/gender  Lower urinary tract disorders  NIUD  Upper urinary tract disorders  Renal function after 10 years follow-up DFG
Case 1  12/man  OAB+dysuria  Normal  Minimal pelvic distension  60  Desmopressin 
            Clean intermittent self-catheterization 
Case 2  14/man  OAB+dysuria  Normal  Bilateral ureteropelvic distension  60  Desmopressin 
Case 3  16/man  OAB  Normal  Bilateral ureteropelvic distension by vesicoureteral reflux  30  Surgical urinary diversion after failed CIC and bilateral ureteral reimplantation 
Case 4  18/woman  Urinary retention treated at the age of four by surgical vesicostomy  Not available  Minimal pelvic distension  80  Desmopressine 
            Surgical closure of vesicostomy 
Case 5  20/woman  OAB  Normal  Bilateral pelvic distension  35  Desmopressine 
Case 6  22/woman  OAB+urge incontinence  Normal  Minimal pelvic distension  70  Desmopressine 

Légende :
OAB: overactive bladder; CIC: clean intermittent self-catheterization; NIUD: non-invasive urodynamic test.


Leroux C., Grasland M., Turmel N., Le Breton F., Chesnel C., Hentzen C., et al. Les troubles vésico-sphinctériens du syndrome de Wolfram. Analyse clinique et urodynamique à partir de 6 observations Progr Urol 2020 ;  30 (4) : 205-208 [cross-ref]
Wragg R., Dias R.P., Barrett T., McCarthy L. Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis J Pediatr Surg 2018 ;  53 (2) : 321-325 [cross-ref]
Tekgul S., Oge O., Simsek E., Yordam N., Kendi S. Urological manifestations of the Wolfram syndrome: observations in 14 patients J Urol 1999 ;  161 (2) : 616-617 [cross-ref]

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Elsevier Masson SAS. Tous droits réservés.