IDEAS home Printed from https://ideas.repec.org/a/gam/jijerp/v19y2022i2p835-d723275.html
   My bibliography  Save this article

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

Author

Listed:
  • 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)

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.

Suggested Citation

  • Francesco Maria Rosanio & Francesca Di Candia & Luisa Occhiati & Ludovica Fedi & Francesco Paolo Malvone & Davide Fortunato Foschini & Adriana Franzese & Enza Mozzillo, 2022. "Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum," IJERPH, MDPI, vol. 19(2), pages 1-12, January.
  • Handle: RePEc:gam:jijerp:v:19:y:2022:i:2:p:835-:d:723275
    as

    Download full text from publisher

    File URL: https://www.mdpi.com/1660-4601/19/2/835/pdf
    Download Restriction: no

    File URL: https://www.mdpi.com/1660-4601/19/2/835/
    Download Restriction: no
    ---><---

    References listed on IDEAS

    as
    1. Maurizio Delvecchio & Matteo Iacoviello & Antonino Pantaleo & Nicoletta Resta, 2021. "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations," IJERPH, MDPI, vol. 18(9), pages 1-12, April.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Luciana Rigoli & Valerio Caruso & Giuseppina Salzano & Fortunato Lombardo, 2022. "Wolfram Syndrome 1: From Genetics to Therapy," IJERPH, MDPI, vol. 19(6), pages 1-18, March.
    2. Giuseppina Salzano & Luciana Rigoli & Mariella Valenzise & Roberto Chimenz & Stefano Passanisi & Fortunato Lombardo, 2022. "Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1," IJERPH, MDPI, vol. 19(1), pages 1-9, January.
    3. Mailis Liiv & Annika Vaarmann & Dzhamilja Safiulina & Vinay Choubey & Ruby Gupta & Malle Kuum & Lucia Janickova & Zuzana Hodurova & Michal Cagalinec & Akbar Zeb & Miriam A. Hickey & Yi-Long Huang & Na, 2024. "ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome," Nature Communications, Nature, vol. 15(1), pages 1-18, December.

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:gam:jijerp:v:19:y:2022:i:2:p:835-:d:723275. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: MDPI Indexing Manager (email available below). General contact details of provider: https://www.mdpi.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.