: 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.

Metabolic Treatment of Wolfram Syndrome / Iafusco, Dario; Zanfardino, Angela; Piscopo, Alessia; Curto, Stefano; Troncone, Alda; Chianese, Antonietta; Rollato, Assunta Serena; Testa, Veronica; Iafusco, Fernanda; Maione, Giovanna; Pennarella, Alessandro; Boccabella, Lucia; Ozen, Gulsum; Palma, Pier Luigi; Mazzaccara, Cristina; Tinto, Nadia; Miraglia Del Giudice, Emanuele. - In: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH. - ISSN 1660-4601. - 19:5(2022). [10.3390/ijerph19052755]

Metabolic Treatment of Wolfram Syndrome

Curto, Stefano;Iafusco, Fernanda;Palma, Pier Luigi;Mazzaccara, Cristina;Tinto, Nadia;Miraglia Del Giudice, Emanuele
2022

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.
2022
Metabolic Treatment of Wolfram Syndrome / Iafusco, Dario; Zanfardino, Angela; Piscopo, Alessia; Curto, Stefano; Troncone, Alda; Chianese, Antonietta; Rollato, Assunta Serena; Testa, Veronica; Iafusco, Fernanda; Maione, Giovanna; Pennarella, Alessandro; Boccabella, Lucia; Ozen, Gulsum; Palma, Pier Luigi; Mazzaccara, Cristina; Tinto, Nadia; Miraglia Del Giudice, Emanuele. - In: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH. - ISSN 1660-4601. - 19:5(2022). [10.3390/ijerph19052755]
Metabolic Treatment of Wolfram Syndrome / Iafusco, Dario; Zanfardino, Angela; Piscopo, Alessia; Curto, Stefano; Troncone, Alda; Chianese, Antonietta; Rollato, Assunta Serena; Testa, Veronica; Iafusco, Fernanda; Maione, Giovanna; Pennarella, Alessandro; Boccabella, Lucia; Ozen, Gulsum; Palma, Pier Luigi; Mazzaccara, Cristina; Tinto, Nadia; Miraglia Del Giudice, Emanuele. - In: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH. - ISSN 1660-4601. - 19:5(2022). [10.3390/ijerph19052755]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/882117
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