Evaluation of clinical follow-up and treatment outcomes in patients with Glycogen Storage Disease Type Ia in relation to glycemic balance

Project no. 32777 · Status: Kapanmış (Yayın bekleniyor) · 2024

Summary

<p><strong>Objective:&nbsp;</strong>Glycogen&nbsp;Storage&nbsp;Disease&nbsp;Type&nbsp;1a&nbsp;(GSD&nbsp;1a)&nbsp;is&nbsp;a&nbsp;metabolic&nbsp;disorder&nbsp;</p><p>characterized&nbsp;by&nbsp;severe&nbsp;hypoglycemia&nbsp;and&nbsp;long-term&nbsp;complications.&nbsp;The&nbsp;primary&nbsp;therapeutic&nbsp;approach&nbsp;is&nbsp;to&nbsp;maintain&nbsp;normoglycemia&nbsp;through&nbsp;meticulous&nbsp;dietary&nbsp;management.&nbsp;This&nbsp;study&nbsp;aims&nbsp;to&nbsp;evaluate&nbsp;the&nbsp;initial&nbsp;presentation&nbsp;and&nbsp;long-term&nbsp;follow-up&nbsp;outcomes&nbsp;of&nbsp;cases&nbsp;monitored&nbsp;with&nbsp;GSD&nbsp;1a.&nbsp;Furthermore,&nbsp;it&nbsp;aims&nbsp;to&nbsp;conduct&nbsp;a&nbsp;comprehensive&nbsp;assessment&nbsp;of&nbsp;metabolic&nbsp;parameters,&nbsp;dietary&nbsp;intake&nbsp;records,&nbsp;and&nbsp;Continuous&nbsp;Glucose&nbsp;Monitoring&nbsp;System&nbsp;(CGMS)&nbsp;data.&nbsp;Following&nbsp;this&nbsp;assessment,&nbsp;the&nbsp;study&nbsp;intends&nbsp;to&nbsp;re-evaluate&nbsp;the&nbsp;holistic&nbsp;outcomes&nbsp;of&nbsp;subsequent&nbsp;dietary&nbsp;revisions,&nbsp;individualized&nbsp;patient&nbsp;and&nbsp;family&nbsp;education,&nbsp;and&nbsp;vitamin&nbsp;supplementation&nbsp;after&nbsp;a&nbsp;six-month&nbsp;follow-up&nbsp;period.&nbsp;</p><p><strong>Materials&nbsp;and&nbsp;Methods:&nbsp;</strong>Nine&nbsp;patients&nbsp;genetically&nbsp;diagnosed&nbsp;with&nbsp;Glycogen&nbsp;Storage&nbsp;Disease&nbsp;Type&nbsp;1a&nbsp;(GSD&nbsp;1a),&nbsp;who&nbsp;are&nbsp;under&nbsp;follow-up&nbsp;at&nbsp;the&nbsp;Ege&nbsp;University&nbsp;Faculty&nbsp;of&nbsp;Medicine,&nbsp;Department&nbsp;of&nbsp;Pediatric&nbsp;Metabolism&nbsp;and&nbsp;Nutrition,&nbsp;were&nbsp;included&nbsp;in&nbsp;the&nbsp;study.&nbsp;The&nbsp;clinical&nbsp;and&nbsp;metabolic&nbsp;parameters&nbsp;of&nbsp;the&nbsp;patients&nbsp;at&nbsp;admission&nbsp;and&nbsp;during&nbsp;follow-up&nbsp;were&nbsp;analyzed.&nbsp;Following&nbsp;a&nbsp;comprehensive&nbsp;evaluation&nbsp;of&nbsp;current&nbsp;Continuous&nbsp;Glucose&nbsp;Monitoring&nbsp;System&nbsp;(CGMS)&nbsp;data,&nbsp;nutritional&nbsp;balance,&nbsp;and&nbsp;biochemical&nbsp;metabolites,&nbsp;an&nbsp;intervention&nbsp;consisting&nbsp;of&nbsp;dietary&nbsp;revision&nbsp;(D),&nbsp;education&nbsp;(E),&nbsp;and&nbsp;vitamin-biotin&nbsp;(10mg/day&nbsp;p.o.)&nbsp;(V)&nbsp;(DEV)&nbsp;was&nbsp;implemented.&nbsp;The&nbsp;patients&nbsp;were&nbsp;re-evaluated&nbsp;after&nbsp;a&nbsp;six-month&nbsp;follow-up&nbsp;period.&nbsp;</p><p><strong>Results:&nbsp;</strong>The&nbsp;ages&nbsp;of&nbsp;the&nbsp;nine&nbsp;patients&nbsp;included&nbsp;in&nbsp;the&nbsp;study&nbsp;ranged&nbsp;from&nbsp;4&nbsp;to&nbsp;29&nbsp;years,&nbsp;with&nbsp;a&nbsp;mean&nbsp;age&nbsp;of&nbsp;17±9&nbsp;years.&nbsp;The&nbsp;mean&nbsp;age&nbsp;at&nbsp;initial&nbsp;presentation&nbsp;was&nbsp;30.67±47.5&nbsp;months,&nbsp;while&nbsp;the&nbsp;mean&nbsp;age&nbsp;at&nbsp;diagnosis&nbsp;was&nbsp;66.22±60.43&nbsp;months.&nbsp;Of&nbsp;the&nbsp;cases,&nbsp;55.6%&nbsp;were&nbsp;male&nbsp;and&nbsp;44.4%&nbsp;were&nbsp;female.&nbsp;At&nbsp;the&nbsp;time&nbsp;of&nbsp;presentation,&nbsp;total&nbsp;cholesterol,&nbsp;LDL,&nbsp;triglyceride,&nbsp;biotinidase&nbsp;activity,&nbsp;blood&nbsp;gas&nbsp;lactate,&nbsp;AST,&nbsp;ALT,&nbsp;GGT,&nbsp;lactic&nbsp;acid&nbsp;(LA),&nbsp;and&nbsp;pyruvic&nbsp;acid&nbsp;(PA)&nbsp;levels&nbsp;were&nbsp;found&nbsp;to&nbsp;be&nbsp;higher&nbsp;than&nbsp;normal.&nbsp;The&nbsp;total&nbsp;follow-up&nbsp;duration&nbsp;was&nbsp;132&nbsp;years,&nbsp;with&nbsp;an&nbsp;average&nbsp;follow-up&nbsp;of&nbsp;14.6&nbsp;years&nbsp;per&nbsp;patient.&nbsp;During&nbsp;the&nbsp;follow-up&nbsp;period,&nbsp;a&nbsp;downward&nbsp;trend&nbsp;was&nbsp;observed&nbsp;in&nbsp;AST,&nbsp;ALT,&nbsp;and&nbsp;LA&nbsp;levels.&nbsp;Following&nbsp;the&nbsp;initial&nbsp;Continuous&nbsp;Glucose&nbsp;Monitoring&nbsp;System&nbsp;(CGMS)&nbsp;implementation;&nbsp;interventions&nbsp;including&nbsp;dietary&nbsp;revision,&nbsp;education,&nbsp;and&nbsp;vitamin&nbsp;supplementation&nbsp;were&nbsp;performed.&nbsp;In&nbsp;the&nbsp;evaluation&nbsp;of&nbsp;dietary&nbsp;revisions,&nbsp;an&nbsp;increase&nbsp;was&nbsp;observed&nbsp;in&nbsp;daily&nbsp;caloric&nbsp;intake,&nbsp;protein&nbsp;(g/kg),&nbsp;protein&nbsp;percentage,&nbsp;and&nbsp;the&nbsp;number&nbsp;of&nbsp;daily&nbsp;meals,&nbsp;while&nbsp;a&nbsp;decrease&nbsp;was&nbsp;noted&nbsp;in&nbsp;starch&nbsp;(g/kg)&nbsp;consumption.&nbsp;A&nbsp;comparative&nbsp;analysis&nbsp;of&nbsp;laboratory&nbsp;parameters&nbsp;before&nbsp;and&nbsp;after&nbsp;these&nbsp;interventions&nbsp;showed&nbsp;a&nbsp;significant&nbsp;decrease&nbsp;in&nbsp;biotinidase&nbsp;activity&nbsp;and&nbsp;triglycerides,&nbsp;whereas&nbsp;HDL&nbsp;levels&nbsp;increased.&nbsp;Statistical&nbsp;analysis&nbsp;of&nbsp;the&nbsp;CGMS&nbsp;data&nbsp;revealed&nbsp;a&nbsp;positive&nbsp;correlation&nbsp;between&nbsp;the&nbsp;percentage&nbsp;of&nbsp;</p><p>xiii&nbsp;</p><p>hyperglycemia&nbsp;and&nbsp;total&nbsp;cholesterol.&nbsp;Additionally,&nbsp;BMI&nbsp;was&nbsp;positively&nbsp;correlated&nbsp;with&nbsp;total&nbsp;cholesterol,&nbsp;and&nbsp;the&nbsp;total&nbsp;percentage&nbsp;of&nbsp;hyperglycemia&nbsp;was&nbsp;positively&nbsp;correlated&nbsp;with&nbsp;triglycerides.&nbsp;A&nbsp;negative&nbsp;correlation&nbsp;was&nbsp;identified&nbsp;between&nbsp;the&nbsp;presence&nbsp;of&nbsp;percutaneous&nbsp;endoscopic&nbsp;gastrostomy&nbsp;(PEG)&nbsp;in&nbsp;patients&nbsp;and&nbsp;the&nbsp;standard&nbsp;deviation&nbsp;of&nbsp;CGMS&nbsp;data&nbsp;prior&nbsp;to&nbsp;DEV&nbsp;intervention;&nbsp;similarly,&nbsp;after&nbsp;the&nbsp;intervention,&nbsp;a&nbsp;negative&nbsp;correlation&nbsp;was&nbsp;observed&nbsp;between&nbsp;PEG&nbsp;presence&nbsp;and&nbsp;both&nbsp;the&nbsp;standard&nbsp;deviation&nbsp;and&nbsp;the&nbsp;percentage&nbsp;of&nbsp;time&nbsp;spent&nbsp;in&nbsp;hyperglycemia&nbsp;in&nbsp;CGMS&nbsp;data.&nbsp;A&nbsp;positive&nbsp;correlation&nbsp;was&nbsp;found&nbsp;between&nbsp;the&nbsp;percentage&nbsp;of&nbsp;time&nbsp;spent&nbsp;in&nbsp;hypoglycemia&nbsp;on&nbsp;pre-intervention&nbsp;CGMS&nbsp;and&nbsp;biotinidase&nbsp;levels&nbsp;as&nbsp;well&nbsp;as&nbsp;LDL&nbsp;levels.&nbsp;A&nbsp;negative&nbsp;correlation&nbsp;was&nbsp;noted&nbsp;between&nbsp;the&nbsp;percentage&nbsp;of&nbsp;time&nbsp;in&nbsp;range&nbsp;and&nbsp;lactic&nbsp;acid&nbsp;levels&nbsp;in&nbsp;both&nbsp;pre-&nbsp;and&nbsp;post-intervention&nbsp;CGMS&nbsp;data,&nbsp;and&nbsp;a&nbsp;similar&nbsp;negative&nbsp;correlation&nbsp;was&nbsp;detected&nbsp;between&nbsp;time&nbsp;in&nbsp;range&nbsp;and&nbsp;pyruvic&nbsp;acid&nbsp;levels&nbsp;in&nbsp;post-intervention&nbsp;CGMS&nbsp;data.&nbsp;Additionally,&nbsp;PEG&nbsp;presence&nbsp;showed&nbsp;a&nbsp;positive&nbsp;correlation&nbsp;with&nbsp;the&nbsp;percentage&nbsp;of&nbsp;time&nbsp;in&nbsp;range&nbsp;in&nbsp;both&nbsp;pre-&nbsp;and&nbsp;post-intervention&nbsp;analyses,&nbsp;while&nbsp;a&nbsp;negative&nbsp;correlation&nbsp;was&nbsp;found&nbsp;between&nbsp;PEG&nbsp;presence&nbsp;and&nbsp;the&nbsp;frequency&nbsp;of&nbsp;severe&nbsp;hypoglycemia&nbsp;in&nbsp;post-intervention&nbsp;CGMS&nbsp;data.&nbsp;</p><p><strong>Conclusion:&nbsp;</strong>As&nbsp;a&nbsp;clinical&nbsp;result&nbsp;of&nbsp;the&nbsp;study,&nbsp;a&nbsp;decrease&nbsp;in&nbsp;biotinidase&nbsp;enzyme&nbsp;activity&nbsp;and&nbsp;triglyceride&nbsp;levels,&nbsp;and&nbsp;an&nbsp;increase&nbsp;in&nbsp;HDL&nbsp;levels&nbsp;were&nbsp;observed&nbsp;in&nbsp;cases&nbsp;of&nbsp;Glycogen&nbsp;Storage&nbsp;Disease&nbsp;Type&nbsp;1a&nbsp;following&nbsp;diet&nbsp;revision,&nbsp;education,&nbsp;and&nbsp;vitamin&nbsp;supplementation&nbsp;(biotin&nbsp;10&nbsp;mg/day).&nbsp;Furthermore,&nbsp;CGMS&nbsp;data&nbsp;indicated&nbsp;that&nbsp;as&nbsp;the&nbsp;duration&nbsp;spent&nbsp;in&nbsp;hyperglycemia&nbsp;increased,&nbsp;the&nbsp;patients&nbsp;BMI&nbsp;values&nbsp;were&nbsp;higher,&nbsp;and&nbsp;dyslipidemia&nbsp;(total&nbsp;cholesterol&nbsp;and&nbsp;triglycerides)&nbsp;worsened&nbsp;accordingly.&nbsp;</p><p>In&nbsp;the&nbsp;pre-intervention&nbsp;CGMS&nbsp;data,&nbsp;it&nbsp;was&nbsp;also&nbsp;observed&nbsp;that&nbsp;biotinidase&nbsp;activity&nbsp;and&nbsp;LDL&nbsp;levels&nbsp;increased&nbsp;as&nbsp;the&nbsp;duration&nbsp;spent&nbsp;in&nbsp;hypoglycemia&nbsp;lengthened.&nbsp;</p><p>The&nbsp;combined&nbsp;evaluation&nbsp;of&nbsp;CGMS&nbsp;use,&nbsp;consumption&nbsp;lists,&nbsp;and&nbsp;biochemical&nbsp;data&nbsp;in&nbsp;GSD&nbsp;Type&nbsp;1a&nbsp;allows&nbsp;for&nbsp;the&nbsp;creation&nbsp;of&nbsp;personalized&nbsp;diet&nbsp;programs;&nbsp;through&nbsp;diet&nbsp;revision,&nbsp;individual&nbsp;and&nbsp;family&nbsp;education,&nbsp;and&nbsp;vitamin&nbsp;supplementation&nbsp;(biotin),&nbsp;improvement&nbsp;in&nbsp;the&nbsp;metabolic&nbsp;complications&nbsp;of&nbsp;the&nbsp;disease&nbsp;has&nbsp;been&nbsp;achieved.&nbsp;</p>

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