Wolfram syndrome. Clinical and urodynamic analysis from 6 observations’’ from:

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Progrèsenurologie(2020)30,983—985

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EDITORIAL COMMENT BY . . .

Commentary to ‘‘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; report of six cases in two wolfram syndrome siblings

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 de 6 cas dans deux fratries atteintes du syndrome de Wolfram

I. Boualaoui

^∗

, I. Ziani , O. Bellouki , H. El Sayegh , L. Benslimane , Y. Nouini

DepartementofurologyA,MohammedVuniversityinRabat,IbnSinauniversity hospital,Rabat,Morocco

Availableonline17August2020

Totheeditors,

We read with a great interest the article entitled

‘‘UrinarydisordersofWolframsyndrome.Clinicalanduro- dynamic analysis from 6 observations’’ from: C. Leroux,

DOI of original article: https://doi.org/10.1016/j.purol.2019.

10.008.

∗Correspondingauthor.

E-mailaddress:[email protected](I.Boualaoui).

M.Grasland,N.Turmel,F.LeBreton,C.Chesnel,C.Hentzen, G. Amarenco, published in November 2019. Their study showed that urinary dysfunction in WOLFRAM syndrome ismainly characterizedby overactive bladderandurinary retention.Wewouldliketocontributesomepointsoftheir paper.

Theauthorsdiscussedthemainlowerurinarytractdisor- dersinWOLFRAMsyndrome.Alltheirpatientssufferedfrom overactivebladderandurodynamicﬁndingsshoweddetrusor overactivity in 50% of their patients [1]. In our depart- ment,wealsotreated6casesofWOLFRAMsyndromeintwo https://doi.org/10.1016/j.purol.2020.07.246

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984 I.Boualaouietal.

Table1 Characteristicsofourpatients.

Cases Ageatthe diagnosis/gender

Lowerurinary tractdisorders

NIUD Upperurinary tractdisorders

Renalfunction after10years follow-upDFG (mL/min)

Treatment

Case1 12/man OAB+dysuria Normal Minimalpelvic distension

60 Desmopressin

Clean

intermittentself- catheterization Case2 14/man OAB+dysuria Normal Bilateral

ureteropelvic distension

60 Desmopressin

CIC

Case3 16/man OAB Normal Bilateral

ureteropelvic distensionby vesicoureteral reﬂux

30 Surgicalurinary

diversionafter failedCICand bilateralureteral reimplantation Case4 18/woman Urinaryretention

treatedatthe ageoffourby surgical vesicostomy

Not available

Minimalpelvic distension

80 Desmopressine

Surgicalclosure ofvesicostomy Anticholigergics CIC

Case5 20/woman OAB Normal Bilateralpelvic

distension

35 Desmopressine

Anticholigergics CIC

Case6 22/woman OAB+urge incontinence

Normal Minimalpelvic distension

70 Desmopressine

Anticholigergics CIC

OAB:overactivebladder;CIC:cleanintermittentself-catheterization;NIUD:non-invasiveurodynamictest.

Moroccanfamilies,from2000to2019,duringtenyearsof minimalfollow-up.Theageofdiagnosedcasesat theﬁrst urologicconsultation is 17±5years. Parent’spropinquity, bilateralopticnerveatrophyandsensorineuralhearingloss werenoticed amongall thesecases. Three patientswere diagnosedwithdiabetesinsipidus.LikeLerouxetal.,ﬁveof ourpatients(83%)sufferedfromdysuriaandaclinicalover- activebladder,however,wehavenotnoticedanydetrusor overactivityinthenon-invasiveurodynamictest(NIUD).The onlypatientwhohasnoNIUDiseighteenyearsold.Shehas beentreated at theageof fourbya surgicalvesicostomy tomanageaurinaryretention.Duetosocialandeconomi- calissues,nomedicalconsultationhasbeendonesincethe paediatricsurgery.Thelimitedmedicalaccessinsomefar areas,explains thatthe most common revealing mode of thediagnosis is the complications of renalfailure. It was thecaseoffourofourpatients(66%)(Table1).

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 perfectcontrolof urinaryoutputmayhave asigniﬁcant impact onlimiting bladder damage.Indeed, bladder dysfunction has been not only attributed to the autonomic anddegenerativedamageaffectingthecentralandperiph- eral nerve system but also to polyuric stretch injury due to the high urinary output of diabetes mellitus and dia- betesinsipidus.Furthermore,theuseofdesmopressinhas adoubleinterest,ontheonehand,itreducestheurinary outputandhelpsintheresolutionofincontinence. Onthe otherhand,itreducestheprogressionofbladderdysfunc- tionandmegacystis[2].Secondly, theupperurinarytract distensionseen in 50%of Lerouxetal. study and100% of our patients,may persistafter the treatment ofdiabetes insipidusbydesmopressinandlowerurinarytractsymptoms bycleanintermittentself-catheterization,anticholinergics orintra-detrusorinjectionofbotulinumtoxin[1].Thisfact suggeststhat thereis anownupper urinarytractdamage whenthe neurodegenerativeprocess reachesureteric and pelvicinnervation[3].

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Reportofsixcasesintwowolframsyndromesiblings 985 Urological manifestations might not be obvious at

the time of diagnosis unless the ﬁrst urological work up. Careful urological follow-up and close monitor- ing are the key points enabling to avoid consequent disorders.

Disclosure of interest

Theauthorsdeclarethattheyhavenocompetinginterest.

References

[1]LerouxC,GraslandM,TurmelN,LeBretonF,ChesnelC,Hentzen C, et al. Les troubles vésico-sphinctériens du syndrome de Wolfram.Analysecliniqueeturodynamiqueàpartirde6obser- vations.ProgrUrol2020;30(4):205—8.

[2]WraggR,DiasRP,BarrettT,McCarthyL.Bladderdysfunctionin Wolframsyndromeishighlyprevalentandprogressestomega- cystis.JPediatrSurg2018;53(2):321—5.

[3]TekgulS,OgeO,SimsekE,YordamN,KendiS.Urologicalmani- festationsoftheWolframsyndrome:observationsin14patients.

JUrol1999;161(2):616—7.