Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature

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dc.authorid0000-0003-0120-9976
dc.authorid0000-0001-5132-9066
dc.authorid0000-0002-3708-459X
dc.authorid0000-0002-0243-5011
dc.contributor.authorŞimşek, Enver
dc.contributor.authorŞimşek, Tülay
dc.contributor.authorTekgül, Serdar
dc.contributor.authorHoşal, Şefik
dc.contributor.authorSeyrantepe, Volkan
dc.contributor.authorAktan, Gülderen
dc.date.accessioned2021-06-23T19:17:42Z
dc.date.available2021-06-23T19:17:42Z
dc.date.issued2003
dc.departmentBAİBÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractAim: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. Methods: Nine patients fulfilled the ascertainment criteria of WFS (insulin-dependent diabetes mellitus and optic atrophy). All patients were evaluated by the departments of paediatrics, ophthalmology, audiology, urology and medical biology. Results: The earliest manifestation of WFS was insulin-dependent diabetes mellitus (at a median age of 6.9 y), followed by optic atrophy (8.9 y), diabetes insipidus (10.2 y) and deafness (10.5 y). Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hearing loss at high frequency in all patients (100%), but only five patients had clinical subjective hearing problems. Intravenous pyelography revealed hydroureteronephrosis in eight patients. Urodynamics revealed a normal bladder in only one patient. Three patients had a low-capacity, low-compliance bladder, detrusor external sphincteric dyssynergia and emptying problem, while five had an atonic bladder. Ocular findings were optic atrophy, low visual acuity and colour vision defects. Visual field tests revealed concentric and/or peripheral diminution in five patients. Visual evoked potentials were abnormal (reduced amplitude to both flash and pattern stimulation) in seven patients. Cranial magnetic resonance imaging showed mild or moderate atrophy of the optic nerves, chiasm, cerebellum, basal ganglia and brainstem in six patients; there was a partially empty sella in one case. There was no evidence of mitochondrial tRNA(Leu) (UUR) A to G (nucleotide 3243) mutation. Conclusion: Wolfram syndrome should be evaluated in a multidisciplinary manner. Some specific and dynamic tests are necessary to make a more precise estimate of the prevalence and median age of the components of WFS. Short stature is a common feature in WFS. Hypogonadism may be hypogonadotropic or hypergonadotropic. Bladder dysfunction does not always present as a large atonic bladder in WFS. A low-capacity, high-pressure bladder with sphincteric dyssynergia is also common.en_US
dc.identifier.endpage61en_US
dc.identifier.issn0803-5253
dc.identifier.issue1en_US
dc.identifier.pmid12650300en_US
dc.identifier.scopus2-s2.0-0037282001en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage55en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/5514
dc.identifier.urihttps://doi.org/10.1111/j.1651-2227.2003.tb00469.x
dc.identifier.volume92en_US
dc.identifier.wosWOS:000181612300010en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorŞimşek, Enver
dc.institutionauthorAktan, Gülderen
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofActa Paediatricaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGrowth Retardationen_US
dc.subjectSphincteric Dyssynergiaen_US
dc.subjectWolfram (DIDMOAD) Syndromeen_US
dc.titleWolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literatureen_US
dc.typeArticleen_US

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