Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review

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 dysfun...

Full description

Saved in:
Bibliographic Details
Published in:International journal of environmental research and public health 2021-11, Vol.18 (22), p.11994
Main Authors: La Valle, Alberto, Piccolo, Gianluca, Maghnie, Mohamad, d’Annunzio, Giuseppe
Format: Article
Language:English
Subjects:
Abnormalities
Age
Asymptomatic
Atrophy
Autoimmune diseases
Bladder
Blindness
Case reports
Central nervous system
Complications
Diabetes
Diabetes insipidus
Diabetes mellitus
Diabetic retinopathy
Endoplasmic reticulum
Hearing loss
Heredity
Insulin
Kidney diseases
Mutation
Neurological diseases
Optic atrophy
Optic nerve
Pancreas
Pathogenesis
Patients
Pediatrics
Proteins
Renal failure
Renal function
Review
Signal transduction
Urinary tract
Urogenital system
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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
ISSN:1660-4601
1661-7827
1660-4601
DOI:10.3390/ijerph182211994