Rossi, Alessandro (2021) Novel monitoring and management strategies for hepatic glycogen storage diseases. [Tesi di dottorato]


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Item Type: Tesi di dottorato
Resource language: English
Title: Novel monitoring and management strategies for hepatic glycogen storage diseases
Date: 28 December 2021
Institution: Università degli Studi di Napoli Federico II
Department: Scienze Mediche Traslazionali
Dottorato: Medicina clinica e sperimentale
Ciclo di dottorato: 34
Coordinatore del Corso di dottorato:
Parenti, GiancarloUNSPECIFIED
Date: 28 December 2021
Keywords: glycogen storage diseases; biomarkers; treatment
Settori scientifico-disciplinari del MIUR: Area 06 - Scienze mediche > MED/03 - Genetica medica
Area 06 - Scienze mediche > MED/38 - Pediatria generale e specialistica
Date Deposited: 30 Dec 2021 07:44
Last Modified: 28 Feb 2024 12:05

Collection description

Hepatic glycogen storage diseases (GSDs) constitute a group of inherited metabolic disorders of glycogen metabolism that result from mutations in enzymes and transporters involved in glycogen breakdown and synthesis. While refined diagnostic methods have significantly improved the identification of (most) patients suffering from hepatic GSDs, the need to develop new methods for patients’ monitoring (including long-term complications) and to optimise patients’ management (including emergency situations) remain among the top research priorities defined by patients, carers, and healthcare professionals. In this PhD thesis potential solutions for these priorities have been investigated. Particularly, in part 1 the potential of continuous glucose monitoring (CGM) and the identification of a novel promising biomarker (namely cortisol metabolism) as possible monitoring tools in GSDIa are shown. In part 2 the benefit of novel management strategies is presented including: 1) high fat diet for (cardio)myopathy in GSDIII, 2) a generic emergency protocol for hepatic GSD patients, 3) empagliflozin administration for inflammatory bowel disease in GSDIb. By 1) defining novel minimally invasive monitoring tools translatable both in clinical research and care and 2) showing the benefit of innovative management strategies, the results of this thesis pave the way for future research directing precision medicine for individual GSD patients.


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