Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Int J Environ Res Public Health
; 19(2)2022 01 12.
Article
in En
| MEDLINE
| ID: mdl-35055657
ABSTRACT
BACKGROUND:
Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928).METHODS:
A systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form.CONCLUSION:
WS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Wolfram Syndrome
/
Optic Atrophy
/
Mitochondrial Diseases
/
Diabetes Mellitus, Type 2
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Systematic_reviews
Limits:
Humans
Language:
En
Journal:
Int J Environ Res Public Health
Year:
2022
Document type:
Article
Affiliation country:
Italy