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1.
Egyptian Journal of Hospital Medicine [The]. 2018; 70 (1): 102-108
em Inglês | IMEMR | ID: emr-190710

RESUMO

Background: Glucose-6-Phosphate-Dehydrogenase [G6PD] deficiency is the most common enzyme deficiency globally and is more remarkable in certain parts of the world which had high malaria prevalence in the past. It is an X-linked genetically inherited disorder, where the first presentation can be neonatal jaundice. There are over 300 variants of this disorder based upon the genetics. Although the morbidity and mortality is not very high, the deficiency can be more appropriately managed by proper preventive methods which include screening and avoidance of trigger. Also prompt management of acute hemolysis can save a child from many complications


Methodology: we conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE from January 1987 to March 2017. The following search terms were used: G6PD deficiency, prevalence of G6PD, genetics of G6PD deficiency, management and diagnosis of G6PD


Aim of the work: this study aimed to understand about the etiology, pathophysiology and study various lines of prevention and management of G6PD deficiency in pediatric age group


Conclusion: proper preventive and treatment methods can avoid negative effects on the child's quality of life and reduce morbidity and mortality, therefore the child's care takers must be well informed

2.
Egyptian Journal of Hospital Medicine [The]. 2018; 70 (9): 1539-1543
em Inglês | IMEMR | ID: emr-192689

RESUMO

Introduction: The pathway of glycogen metabolism is regulated by many hormones such as insulin, glucagon, and corticosteroids. Glycogen storage diseases [GSD] most commonly affect muscles, liver, or both and occur in each 20000 to 43000 live birth. They are classified into 12 subtypes, but types I, II, and IX are the most common


Methodology: We conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE, from January 2001, through February 2017. The following search terms were used: glycogen storage diseases, Von Gierke disease, Pompe's disease, Cori Disease, Forbes disease, Andersen's disease, McArdle disease, neonatal hypoglycemia, neonatal hepatomegaly


Aim: In this review, we aim to study the genetic basis, diagnosis, presentation, and different management approach to various common types of glycogen storage diseases prevalent in pediatric population


Conclusion: There are no cures for any type of glycogen storage diseases presently. Most treatments are designed to control signs and symptoms. The overall goals are primarily avoiding hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Liver transplantation should be deliberated for patients with GSD type IV and for other progressive hepatic types of GSDs in order to avoid hepatic failure or malignancy. More research must be carried out to develop newer and more effective ways of management

3.
Egyptian Journal of Hospital Medicine [The]. 2018; 70 (12): 2067-2071
em Inglês | IMEMR | ID: emr-192767

RESUMO

Introduction: The pathway of glycogen metabolism is regulated by many hormones such as insulin, glucagon, and corticosteroids. Glycogen storage diseases [GSD] most commonly affect muscles, liver, or both and occur in each 20000 to 43000 live birth. They are classified into 12 subtypes, but types I, II, and IX are the most common


Methodology: We conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE, from January 2001, through February 2017. The following search terms were used: glycogen storage diseases, Von Gierke disease, Pompe's disease, Cori Disease, Forbes disease, Andersen's disease, McArdle disease, neonatal hypoglycemia, neonatal hepatomegaly


Aim: In this review, we aim to study the genetic basis, diagnosis, presentation, and different management approach to various common types of glycogen storage diseases prevalent in pediatric population


Conclusion: There are no cures for any type of glycogen storage diseases presently. Most treatments are designed to control signs and symptoms. The overall goals are primarily avoiding hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Liver transplantation should be deliberated for patients with GSD type IV and for other progressive hepatic types of GSDs in order to avoid hepatic failure or malignancy. More research must be carried out to develop newer and more effective ways of management

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