Diabetes mellitus in a patient with glycogen storage disease type Ia: A case report

被引：10

作者：

Cohn A. ^{[1
]}

Ohri A. ^{[1
]}

机构：

[1] Department of Internal Medicine, Rutgers Robert Wood Johnson Medical School, MEB 486 PO Box 19, 1 RWJ Place, New Brunswick, 08903, NJ

来源：

Journal of Medical Case Reports | / 11卷 / 1期

关键词：

Diabetes; Glycogen storage disease; Hyperglycemia; Hypoglycemia; Metabolic syndrome;

D O I：

10.1186/s13256-017-1462-5

中图分类号：

学科分类号：

摘要：

Background: Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. Case presentation: We describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult. Hyperglycemia was noted after childbirth, and worsened years later. Treatment for diabetes was difficult due to risks of hypoglycemia from her underlying glycogen storage disease. With minimal hypoglycemic events, the patient's blood glucose improved with exercise in combination with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor. Conclusion: We report a rare case of diabetes in the setting of glycogen storage disease-Ia. Based on the literature, there appears to be a relationship between glycogen storage disease and metabolic syndrome, which likely plays a role in the pathogenesis. The management of glycemic control remains a clinical challenge, requiring management of both fasting hypoglycemia from glycogen storage disease, as well as post-prandial hyperglycemia from diabetes mellitus. © 2017 The Author(s).

引用

共 15 条

[1]

Rajas F., Labrune P., Mithieux G., Glycogen storage disease type 1 and diabetes: Learning by comparing and contrasting the two disorders, Diabetes Metab, 39, 5, pp. 377-387, (2013)

[2]

Rajas F., Et al., Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease, J Inherit Metab Dis, 38, 3, pp. 521-527, (2015)

[3]

Froissart R., Et al., Glucose-6-phosphatase deficiency, Orphanet J Rare Dis, 6, (2011)

[4]

Spiegel R., Et al., Secondary diabetes mellitus: Late complication of glycogen storage disease type 1b, J Pediatr Endocrinol Metab, 18, 6, pp. 617-620, (2005)

[5]

Melis D., Et al., Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation, Orphanet J Rare Dis, 10, 1, (2015)

[6]

Lockwood D.H., Et al., Insulin secretion in type i glycogen storage disease, Diabetes, 18, 11, pp. 755-758, (1969)

[7]

Sechi A., Ellerton C., Peters C., Gissen P., Mundy H., Lachmann R.H., Murphy E., Insulin resistance and diabetes in glycogen storage disease: Presentation of 5 clinical cases, J Inherit Metab Dis, 35, (2012)

[8]

Bali D.S., Chen Y.T., Austin S., Et al., Glycogen storage disease type I., GeneReviews®

[9]

Perry R.J., Et al., The role of hepatic lipids in hepatic insulin resistance and type 2 diabetes, Nature, 510, 7503, pp. 84-91, (2014)

[10]

Dowman J.K., Tomlinson J.W., Newsome P.N., Pathogenesis of non-alcoholic fatty liver disease, QJM, 103, 2, pp. 71-83, (2010)

← 1 2 →