Gema Esteban Bueno1, Dyanne Ruiz-Castañeda2, Javier Ruiz Martínez3, Manuel Romero Muñoz4, Pedro Carrillo Alascio5. 1. Clinical Management Unit Garrucha, Area of Health Management North of Almería, Spanish Association for Research and Help to Wolfram Syndrome, Garrucha, Spain. gema.esteban.bueno@gmail.com. 2. Andalusian Public Foundation for the Biosanitary Research of Eastern Andalusia-Alejandro Otero, Spanish Association for Research and Help to Wolfram Syndrome, Andalucia, Spain. 3. CIBERNED, Donostia University Hospital Neurology Service Area of Neurosciences Biodonostia Research Institute, San Sebastian, Spain. 4. Endocrinology and Nutrition Unit, Rafael Méndez Hospital, Granada, Spain. 5. Clinical Management Unit, Internal Medicine Hospital La Inmaculada, Area of Health Management North of Almería, Almería, Spain.
Abstract
PURPOSE: To describe clinical characteristics of diabetes mellitus (DM) in a group of patients with Wolfram Syndrome (WS). METHODS: Descriptive, cross-sectional observational design. The sample consisted of 50 patients diagnosed with WS. Clinical criteria contributing to WS diagnosis were analyzed: diabetes mellitus (DM), optic nerve atrophy (OA), sensorineural deafness, urological and neurological dysfunction, among others. These parameters were assessed according to their presence/absence, age of onset, and various clinical-analytical parameters. RESULTS: All the patients studied presented DM and OA, with a mean age of onset of 5.4 ± .9 (1-14) years and 9 ± .9 (1-16) years, respectively. The remaining criteria were present with a variable frequency: 77% had diabetes insipidus, 66.7% auditory alterations, 77.8% neurogenic bladder, 61.1% neurological involvement, and 27.8% hypogonadism. A 16.7% of the patients had positive albuminuria (urinary albumin/creatinine ratio > 30 mg/g) and 72.2% had hyporreflexia. There were no significant differences in the age of diagnosis nor of the presence of different pathologies according to sex. CONCLUSIONS: The early presence of a non-autoimmune insulin dependent DM, should alert us of an "infrequent" diabetes syndrome. Wolfram's presumptive diagnosis could be established if juvenile-onset DM occurs concomitantly with OA, and this visual impairment is not attributable to diabetic retinopathy. Despite the long period of evolution of DM and altered values of HbA1c, the prevalence of microvascular complications in the sample are low.
PURPOSE: To describe clinical characteristics of diabetes mellitus (DM) in a group of patients with Wolfram Syndrome (WS). METHODS: Descriptive, cross-sectional observational design. The sample consisted of 50 patients diagnosed with WS. Clinical criteria contributing to WS diagnosis were analyzed: diabetes mellitus (DM), optic nerve atrophy (OA), sensorineural deafness, urological and neurological dysfunction, among others. These parameters were assessed according to their presence/absence, age of onset, and various clinical-analytical parameters. RESULTS: All the patients studied presented DM and OA, with a mean age of onset of 5.4 ± .9 (1-14) years and 9 ± .9 (1-16) years, respectively. The remaining criteria were present with a variable frequency: 77% had diabetes insipidus, 66.7% auditory alterations, 77.8% neurogenic bladder, 61.1% neurological involvement, and 27.8% hypogonadism. A 16.7% of the patients had positive albuminuria (urinary albumin/creatinine ratio > 30 mg/g) and 72.2% had hyporreflexia. There were no significant differences in the age of diagnosis nor of the presence of different pathologies according to sex. CONCLUSIONS: The early presence of a non-autoimmune insulin dependent DM, should alert us of an "infrequent" diabetes syndrome. Wolfram's presumptive diagnosis could be established if juvenile-onset DM occurs concomitantly with OA, and this visual impairment is not attributable to diabetic retinopathy. Despite the long period of evolution of DM and altered values of HbA1c, the prevalence of microvascular complications in the sample are low.
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