1.
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He, B, Li, X, Zhou, Z
Journal of diabetes. 2021;(1):19-32
Abstract
The KCNJ11 gene encodes the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (KATP ) channel, which plays a key role in insulin secretion. Monogenic diseases caused by KCNJ11 gene mutation are rare and easily misdiagnosed. It has been shown that mutations in the KCNJ11 gene are associated with neonatal diabetes mellitus (NDM), maturity-onset diabetes of the young 13 (MODY13), type 2 diabetes mellitus (T2DM), and hyperinsulinemic hypoglycemia. We report four patients with KCNJ11 gene mutations and provide a systematic review of the literature. A boy with diabetes onset at the age of 1 month was misdiagnosed as type 1 diabetes mellitus (T1DM) for 12 years and received insulin therapy continuously, resulting in poor glycemic control. He was diagnosed as NDM with KCNJ11 E322K gene mutation, and glibenclamide was given to replace exogenous insulin. The successful transfer time was 4 months, much longer than the previous unsuccessful standard of 4 weeks. The other three patients were two sisters and their mother; the younger sister was misdiagnosed with T1DM at 13 years old, while the elder sister was diagnosed with diabetes (type undefined) at 16 years old. They were treated with insulin for 3 years, with poor glycemic control. Their mother was diagnosed with T2DM and achieved good glycemia control with glimepiride. They were diagnosed as MODY13 because of the autosomal dominant inheritance of two generations, early onset of diabetes before 25 years of age in the two sisters, and the presence of the KCNJ11 N48D gene mutation. All patients successfully transferred to sulfonylureas with excellent glycemic control. Therefore, the wide spectrum of clinical phenotypes of glucose dysmetabolism caused by KCNJ11 should be recognized to reduce misdiagnosis and implement appropriate treatment.
2.
Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism.
Vajravelu, ME, Congdon, M, Mitteer, L, Koh, J, Givler, S, Shults, J, De León, DD
Hormone research in paediatrics. 2019;(1):62-68
-
-
Free full text
-
Abstract
UNLABELLED Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center's HI team uses dextrose solution given continuously via gastric tube (intrasgastric dextrose, IGD) for infants not fully responsive to conventional medical therapy or pancreatectomy. Here, we describe our practice as well as growth, feeding, and adverse events in infants with HI exposed to IGD. METHODS This was a retrospective cohort of infants with HI treated with IGD from 2009-2017. Primary outcomes were weight-for-length and body mass index Z-scores (WFL-Z and BMI-Z) in the year following IGD initiation. Secondary outcomes included EN use and adverse events. We used multivariable regression to assess covariates of interest. RESULTS We studied 32 subjects (13 female) with a median age at IGD initiation of 73 days (range 17-367); median follow-up was 11.2 months (range 5.0-14.2). WFL-Z did not change significantly over time (p > 0.05). EN use decreased significantly over time, i.e., at 0 months: 72% (95% CI 53-85) vs. at 12 months 39% (95% CI 22-59). No potential adverse events led to discontinuation of IGD. CONCLUSIONS Over a median follow-up of nearly 1 year, IGD was well-tolerated, with no change in WFL-Z or BMI-Z from baseline.
3.
Icodextrin-induced acute pancreatitis in a peritoneal dialysis patient: a case report and literature review
.
Rubinstein, S, Franjul, R, Surana, S, Fogel, J
Clinical nephrology. 2016;(11):283-286
Abstract
The 7.5% icodextrin solution is widely used for long-dwell in peritoneal dialysis (PD) regimens as an alternative osmotic agent to glucose. It has been defined as a biocompatible agent because of its iso-osmolarity and is generally safe and well tolerated. Icodextrin and its hydrolyzed metabolites are found in systemic circulation. In serum, icodextrin interferes with amylase determination causing a significantly decreased plasma amylase level making it unreliable for the diagnosis of acute pancreatitis. Lipase measurement provides an alternative and accurate method for diagnosing acute pancreatitis (AP) in patients using icodextrin. Icodextrin-induced acute pancreatitis is not well described. The literature appears limited to two case reports. We describe a case of a man with end-stage renal disease (ESRD) on PD who developed acute pancreatitis following icodextrin use. We also provide a novel possible mechanism for understanding how icodextrin causes AP.
.
4.
Congenital hyperinsulinism: exclusive human milk and breastfeeding.
Edwards, TM, Spatz, DL
Advances in neonatal care : official journal of the National Association of Neonatal Nurses. 2014;(4):262-6; quiz 267-8
Abstract
Congenital hyperinsulinism is a genetic condition causing dysregulation of insulin and results in persistent hypoglycemia. The most common types are sulfonylurea receptor (SUR1), potassium inward rectifying channel (Kir6.2), glutamate dehydrogenase (GDH), and glucokinase (GK), with SUR1 and Kir6.2 being the most prevalent. It is imperative that these infants undergo diagnostic testing, which includes genetic, neonatal fasting study to induce hypoglycemia, glucagon stimulation, and imaging. Once a diagnosis has been made, surgical intervention may be needed to help regulate blood glucose levels. During this diagnostic process and as the infant is undergoing treatment, there may be little concern for the mother's feeding plan. Because human milk is the preferred form of nutrition for all infants, these mothers should receive prenatal counseling regarding the initiation and maintenance of milk supply. Parenteral nutrition may be necessary to maintain blood glucose to support human milk administration and breastfeeding.
5.
[Chromium (III)-ion enhances the utilization of glucose in type-2 diabetes mellitus].
Keszthelyi, Z, Past, T, Koltai, K, Szabó, L, Mózsik, G
Orvosi hetilap. 2003;(42):2073-6
Abstract
INTRODUCTION The prevalence of the type 2 diabetes mellitus is still growing. Although the occurrence of insulin resistance is quite frequent in the whole population, diabetes not always develops because for a time the compensating mechanism avoids it. In a frequent variation of type-2 diabetes the disease is not the result of an alteration in the insulin receptor or the glucose transporter, but a genetically determined defect of the postreceptorial intracellular signaling mechanism plays a role in its occurrence. There have been investigations for decades to find out more about the role of chromium (III) ions in glucose metabolism and in the prevention of type-2 diabetes. It has also been investigated if chromium substitution can prevent or treat those forms of diabetes where chromium deficiency is suspected to be in the background of the disorder. AIM: The aim of our present investigation is to test the role of chromium (III) compounds in glucose metabolism that are known from literature. The authors examined the effect of oral chromium supplementation on antidiabetic treatment. Chromium supplementation was applied for 6 months. METHODS Before, through and after the investigation changes in the patient's carbohydrate and lipid metabolism were followed by laboratory tests. RESULTS At the end of our examination the cholesterin level significantly, the HbA1c level close to the significant value decreased. Due to their results the authors presume that chromium (III) compounds may be effective in the treatment of patients' with decreased glucose tolerance or type-2 diabetes mellitus as a supplement to their therapy.