학술논문

Metabolic Treatment of Wolfram Syndrome.
Document Type
Academic Journal
Author
Iafusco D; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Zanfardino A; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Piscopo A; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Curto S; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Troncone A; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Chianese A; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Rollato AS; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Testa V; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Iafusco F; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', 80131 Naples, Italy.; CEINGE Advanced Biotechnologies, 80131 Naples, Italy.; Maione G; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', 80131 Naples, Italy.; CEINGE Advanced Biotechnologies, 80131 Naples, Italy.; Pennarella A; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Boccabella L; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Ozen G; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Palma PL; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Mazzaccara C; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', 80131 Naples, Italy.; CEINGE Advanced Biotechnologies, 80131 Naples, Italy.; Tinto N; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', 80131 Naples, Italy.; CEINGE Advanced Biotechnologies, 80131 Naples, Italy.; Miraglia Del Giudice E; Regional Center of Pediatric Diabetology 'G.Stoppoloni', University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Source
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238455 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-4601 (Electronic) Linking ISSN: 16604601 NLM ISO Abbreviation: Int J Environ Res Public Health Subsets: MEDLINE
Subject
Language
English
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.