Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Francesco Maria Rosanio, Francesca Di Candia, Luisa Occhiati, Ludovica Fedi, Francesco Paolo Malvone, Davide Fortunato Foschini, Adriana Franzese and Enza Mozzillo
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Francesco Maria Rosanio: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Francesca Di Candia: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Luisa Occhiati: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Ludovica Fedi: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Francesco Paolo Malvone: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Davide Fortunato Foschini: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Adriana Franzese: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Enza Mozzillo: Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy

IJERPH, 2022, vol. 19, issue 2, 1-12

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.

Keywords: Wolfram syndrome type 2; CISD2; DIDMOAD; genetic diabetes; optic atrophy; hearing loss; bleeding disorders; gastrointestinal ulcers (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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