Metabolic Treatment of Wolfram Syndrome

Dario Iafusco, Angela Zanfardino, Alessia Piscopo, Stefano Curto, Alda Troncone, Antonietta Chianese, Assunta Serena Rollato, Veronica Testa, Fernanda Iafusco, Giovanna Maione, Alessandro Pennarella, Lucia Boccabella, Gulsum Ozen, Pier Luigi Palma, Cristina Mazzaccara, Nadia Tinto and Emanuele Miraglia del Giudice
Additional contact information
Dario Iafusco: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Angela Zanfardino: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Alessia Piscopo: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Stefano Curto: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Alda Troncone: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Antonietta Chianese: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Assunta Serena Rollato: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Veronica Testa: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Fernanda Iafusco: Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, 80131 Naples, Italy
Giovanna Maione: Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, 80131 Naples, Italy
Alessandro Pennarella: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Lucia Boccabella: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Gulsum Ozen: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Pier Luigi Palma: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Cristina Mazzaccara: Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, 80131 Naples, Italy
Nadia Tinto: Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, 80131 Naples, Italy
Emanuele Miraglia del Giudice: Regional Center of Pediatric Diabetology “G.Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy

IJERPH, 2022, vol. 19, issue 5, 1-10

Abstract: Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an early state and may be diagnosed after diabetes’ onset. Prognosis is poor, and the death occurs at the median age of 39 years as a consequence of progressive respiratory impairment, secondary to brain atrophy and neurological failure. The aim of this paper is the description of the metabolic treatment of the WS. We reported the experience of long treatment in patients with this syndrome diagnosed in pediatric age and followed also in adult age. It is known that there is a correlation between metabolic control of diabetes, the onset of other associated symptoms, and the progression of the neurodegenerative alterations. Therefore, a multidisciplinary approach is necessary in order to prevent, treat and carefully monitor all the comorbidities that may occur. An extensive understanding of WS from pathophysiology to novel possible therapy is fundamental and further studies are needed to better manage this devastating disease and to guarantee to patients a better quality of life and a longer life expectancy.

Keywords: Wolfram Syndrome; diabetes mellitus; insulin therapy (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.mdpi.com/1660-4601/19/5/2755/pdf (application/pdf)
https://www.mdpi.com/1660-4601/19/5/2755/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:19:y:2022:i:5:p:2755-:d:759880

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().