Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.

Alberto La Valle,Gianluca Piccolo,Giuseppe D’Annunzio,Mohamad Maghnie

doi:10.3390/ijerph182211994

Abstract

Wolfram Syndrome (WS) is a rare neurodegenerative disease with autosomal recessive inheritance and characterized by juvenile onset, non-autoimmune diabetes mellitus and later followed by optic atrophy leading to blindness, diabetes insipidus, hearing loss, and other neurological and endocrine dysfunctions. A wide spectrum of neurodegenerative abnormalities affecting the central nervous system has been described. Among these complications, neurogenic bladder and urodynamic abnormalities also deserve attention. Urinary tract dysfunctions (UTD) up to end stage renal disease are a life-threatening complication of WS patients. Notably, end stage renal disease is reported as one of the most common causes of death among WS patients. UTD have been also reported in affected adolescents. Involvement of the urinary tract occurs in about 90% of affected patients, at a median age of 20 years and with peaks at 13, 21 and 33 years. The aim of our narrative review was to provide an overview of the most important papers regarding urological impairment in Wolfram Syndrome. A comprehensive search on PubMed including Wolfram Syndrome and one or more of the following terms: chronic renal failure, bladder dysfunction, urological aspects, and urinary tract dysfunction, was done. The exclusion criteria were studies not written in English and not including urinary tract dysfunction deep evaluation and description. Studies mentioning general urologic abnormalities without deep description and/or follow-up were not considered. Due to the rarity of the condition, we considered not only papers including pediatric patients, but also papers with pediatric and adult case reports

Highlights

Wolfram Syndrome (WS) (OMIM 222300) is a rare neurodegenerative disease (RN1290 code) with autosomal recessive inheritance and characterized by juvenile-onset, nonautoimmune diabetes mellitus and later followed by optic atrophy leading to blindness, diabetes insipidus, hearing loss, and other neurological and endocrine dysfunctions [1,2]
Due to the rarity of the condition, we considered papers including pediatric patients, and papers with pediatric and adult case reports
Ultrasound revealed bilateral dilatation of upper urinary tract ureters associated with bladder distension

Summary

Introduction

Wolfram Syndrome (WS) (OMIM 222300) is a rare neurodegenerative disease (RN1290 code) with autosomal recessive inheritance and characterized by juvenile-onset, nonautoimmune diabetes mellitus and later followed by optic atrophy leading to blindness, diabetes insipidus, hearing loss, and other neurological and endocrine dysfunctions [1,2]. It was firstly described by Wolfram and Wagner in 1938 [1]. The acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) includes the main clinical characteristics of the syndrome. Several abnormalities in heterozygous relatives of WS patients have been described, like glucose abnormalities, subclinical hearing loss, and neuropsychiatric disturbances including suicidal behavior

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