Natural history and clinical characteristics of 50 patients with Wolfram syndrome

• Published in: Endocrine Vol. 61; no. 3; pp. 440 - 446
• Main Authors: Bueno, Gema Esteban, Ruiz-Castañeda, Dyanne, Martínez, Javier Ruiz, Muñoz, Manuel Romero, Alascio, Pedro Carrillo
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-09-2018; Springer Nature B.V
• Subjects: Adolescent; Adult; Age; Atrophy; Child; Creatinine; Cross-Sectional Studies; Deafness; Diabetes; Diabetes insipidus; Diabetes Insipidus - etiology; Diabetes mellitus; Diabetes mellitus (insulin dependent); Diabetes Mellitus - etiology; Diabetic retinopathy; Diagnosis; Disease Progression; Endocrinology; Female; Hearing Loss, Sensorineural - etiology; Humanities and Social Sciences; Humans; Hypogonadism; Hypogonadism - etiology; Insulin; Internal Medicine; Male; Medicine; Medicine & Public Health; Microvasculature; Middle Aged; multidisciplinary; Neurological complications; Optic Atrophy - etiology; Optic nerve; Original Article; Retinopathy; Science; Symptom Assessment; Wolfram Syndrome - complications; Wolfram Syndrome - diagnosis; Young Adult; Wolfram syndrome; Optic atrophy; Sensorineural deafness; Neurodegeneration; Diabetes mellitus; DIDMOAD
• ISSN: 1355-008X; 1559-0100
• DOI: 10.1007/s12020-018-1608-2

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.