Oral glucose tolerance test in 100 normal children

Cf, Knopf; Jc, Cresto; Il, Dujovne; Ramos, Olga; Sf, De Majo

doi:10.1007/bf02581396

Cited by 11 publications

(5 citation statements)

References 18 publications

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“…2) and the anecdotal evidence of hypersensitivity to glucose exhibited by the proband's brother, we pursued OGTT in the mother (Table 1) and the brother (Table 2), both of whom are heterozygous for the V290M mutation. Blood glucose in healthy adults will be below 200 mg/dl at 1 h and below 140 mg/dl at 2 h; in healthy children, it will be ∼100 mg/dl at 1 h (25). Even though neither mother nor brother displays overt HI under-fed conditions, glucose was close to fasting levels in both at 1 h, and even lower at 2 h, suggestive of a “supranormal” response.…”

Section: Resultsmentioning

confidence: 99%

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation

et al. 2010

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OBJECTIVEThe ATP-sensitive K+ channel (KATP) controls insulin secretion from the islet. Gain- or loss-of-function mutations in channel subunits underlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively. In this study, we sought to identify the mechanistic basis of KATP-induced HI in two probands and to characterize the clinical course.RESEARCH DESIGN AND METHODSWe analyzed HI in two probands and characterized the course of clinical treatment in each, as well as properties of mutant KATP channels expressed in COSm6 cells using Rb efflux and patch-clamp methods.RESULTSWe identified mutation V290M in the pore-forming Kir6.2 subunit in each proband. In vitro expression in COSm6 cells supports the mutation resulting in an inactivating phenotype, which leads to significantly reduced activity in intact cells when expressed homomerically, and to a lesser extent when expressed heteromerically with wild-type subunits. In one heterozygous proband, a fluoro-DOPA scan revealed a causal focal lesion, indicating uniparental disomy with loss of heterozygosity. In a second family, the proband, homozygous for the mutation, was diagnosed with severe diazoxide–unresponsive hypersinsulinism at 2 weeks of age. The patient continues to be treated successfully with octreotide and amlodipine. The parents and a male sibling are heterozygous carriers without overt clinical HI. Interestingly, both the mother and the sibling exhibit evidence of abnormally enhanced glucose tolerance.CONCLUSIONSV290M results in inactivating KATP channels that underlie HI. Homozygous individuals may be managed medically, without pancreatectomy. Heterozygous carriers also show evidence of enhanced glucose sensitivity, consistent with incomplete loss of KATP channel activity.

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Section: Resultsmentioning

confidence: 99%

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation

et al. 2010

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“…OGTT test results were evaluated using American Diabetes Association guidelines and reference values for non-obese children. 26,27…”

Section: Oral Glucose Tolerance Test Visitmentioning

confidence: 99%

“…(A) Individual plasma blood glucose levels during the oral glucose tolerance test in 6 children with SMA type II. The dashed bottom line represents the mean value for healthy children 27. The dotted line at 140 mg/dL represents the cut-off for impaired glucose tolerance at 120 minutes.…”

mentioning

confidence: 99%

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II

Davis

Miller

Zhang

et al. 2015

The Journal of Pediatrics

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“…The statistical model was the "Intention to treat" (ITT) [94,95] which enables the researcher, when the child surpasses certain parameters previously described to change the group. The use of "Control" for children is not ethical, more when the treatment poses no risks.…”

Section: Methodsmentioning

confidence: 99%

Acetyl-L-Carnitine and Nicotinamide for Prevention of Type 1 Diabetes. I-Literature Review which Gave Support to the Treatment. II-Case Report, Evaluation of Five Years Treatment

Tonietti¹

2015

Immunome Res

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Oral glucose tolerance test in 100 normal children

Cited by 11 publications

References 18 publications

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II

Acetyl-L-Carnitine and Nicotinamide for Prevention of Type 1 Diabetes. I-Literature Review which Gave Support to the Treatment. II-Case Report, Evaluation of Five Years Treatment

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