ABCC8 p.Gly1469Val
| Predicted by SNAP2: | A: N (66%), C: D (59%), D: N (78%), E: N (72%), F: D (66%), H: N (78%), I: D (63%), K: N (87%), L: D (66%), M: N (53%), N: N (87%), P: D (66%), Q: N (87%), R: N (66%), S: N (87%), T: N (87%), V: D (63%), W: D (75%), Y: D (63%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Noninvasive diagnosis of focal hyperinsulinism of ... Diabetes. 2006 Jan;55(1):13-8. Otonkoski T, Nanto-Salonen K, Seppanen M, Veijola R, Huopio H, Hussain K, Tapanainen P, Eskola O, Parkkola R, Ekstrom K, Guiot Y, Rahier J, Laakso M, Rintala R, Nuutila P, Minn H
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography.
Diabetes. 2006 Jan;55(1):13-8., [PMID:16380471]
Abstract [show]
Congenital hyperinsulinism of infancy (CHI) is characterized by severe hypoglycemia due to dysregulated insulin secretion, associated with either focal or diffuse pathology of the endocrine pancreas. The focal condition is caused by a paternally inherited mutation in one of the genes encoding the subunits of the beta-cell ATP-sensitive potassium channel (SUR1/ABCC8 or Kir6.2/KCNJ11) and somatic loss of maternal 11p15 alleles within the affected area. Until now, preoperative diagnostics have relied on technically demanding and invasive catheterization techniques. We evaluated the utility of fluorine-18 l-3,4-dihydroxyphenylalanine ([(18)F]-DOPA) positron emission tomography (PET) to identify focal pancreatic lesions in 14 CHI patients, 11 of which carried mutations in the ABCC8 gene (age 1-42 months). To reduce bias in PET image interpretation, quantitative means for evaluation of pancreatic [(18)F]-DOPA uptake were established. Five patients had a visually apparent focal accumulation of [(18)F]-DOPA and standardized uptake value (SUV) >50% higher (mean 1.8-fold) than the maximum SUV of the unaffected part of the pancreas. When these patients were operated on, a focus of 4-5 x 5-8 mm matching with the PET scan was found, and all were normoglycemic after resection of the focus. The remaining nine patients had diffuse accumulation of [(18)F]-DOPA in the pancreas (SUV ratio <1.5). Diffuse histology was verified in four of these, and pancreatic catheterization was consistent with diffuse pathology in four cases. In conclusion, [(18)F]-DOPA PET is a promising noninvasive method for the identification and localization of the focal form of CHI.
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No. Sentence Comment
100 In one of these (case no. 7), a pancreatic biopsy with diffuse-type pathol- TABLE 1 Clinical and genetic characteristics of the patients, together with the findings in PET scan, pancreatic catheterization, surgery, and histology Patient Age at diagnosis/PET ABCC8 mutation Response to medication Glucose need (mg/kg/min) PET PVS/PACS Surgery/histology 1 Neonatal/6 months V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 12.3 focal/head focal/head focal resection/posterior neck PAD: focus 6.8 afb; 4 mm 2 4 months/13 months V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 9.5 focal/body focal/body focal resection/body PAD: focus 5 afb; 4 mm 3 Neonatal/6 months G1469V (4408Gb0e;T) (Paternal) Dzxafa;, Octr af9; 12.7 focal/head focal/head focal resection/head PAD: focus 8 afb; 5 mm 4 Neonatal/3.5 years V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 12.7 diffuse diffuse* ND 5 Neonatal/6 months A113V (338Cb0e;T) (Paternal) Dzxafa;, Octr af9; 12.7 diffuse diffuse Near-total pancreatectomy PAD: diffuse histology 6 Neonatal/5 years No mutations Dzx af9; 6.5 diffuse diffuse* ND 7 3 months/4 years No mutations Dzx af9; 6.5 diffuse ND Pancreas biopsy PAD: diffuse histology 8 Neonatal/9 months G92D (275Gb0e;A) Dzxafa;, Octr af9; 10.3 diffuse ND Near-total pancreatectomy PAD: diffuse histology 9 Neonatal/1 month V187D (561Tb0e;A) (Paternal) Dzxafa;, Octrafa; 20 focal/head ND focal resection/uncinate process PAD: focus 8 afb; 4 mm 10 Neonatal/2 months No mutations Dzx partial, Octr af9; 6.2 diffuse ND ND 11 5 months/13 months V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 6.4 diffuse diffuse ND 12 Neonatal/1.5 months G474A (de novo) Dzxafa;, Octr af9; 15.9 diffuse ND Near-total pancreatectomy PAD diffuse; 13 Neonatal/3 months C418R (1252Tb0e;C) (Maternal) Dzxafa;, Octr af9; 26 focal/body ND focal resection/body PAD: focus 10 afb; 6 mm 14 Neonatal/6 months A113V (338Cb0e;T) (Paternal) Dzxafa;, Octr af9; 13 diffuse ND ND The glucose need refers to the glucose infusion rate that was required to maintain normoglycemia at the time of the PET scan.
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ABCC8 p.Gly1469Val 16380471:100:687
status: NEW