| H01267 | |
| H番号 | H01267 |
| 名称 | 家族性高インスリン性低血糖症 |
| 概要 | Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects in the regulation of insulin secretion. Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and INSR. Mutations of these loci have significant differences in phenotype and inheritance pattern. The most common genes associated with hyperinsulinism, involve the ABCC8 and KCNJ11 genes that encode the two subunits of the beta-cell ATP-dependent potassium channel. Recessive mutations of these genes cause a severe form of neonatal hypoglycemia that frequently requires near-total pancreatectomy. Diazoxide, a drug that acts as an agonist of the ATP-dependent potassium channel to suppress insulin secretion, is effective in defects associated with mutations of GLUD1 and HADHSC. Diazoxide is often ineffective in mutations of the ATP- dependent potassium channel and may not adequately control hypoglycemia in GCK or SLC16A1 mutations. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032] (HHF2) KCNJ11 [HSA:3767] [KO:K05004] (HHF3) GCK [HSA:2645] [KO:K12407] (HHF4) HADH [HSA:3033] [KO:K00022] (HHF5) INSR [HSA:3643] [KO:K04527] (HHF6) GLUD1 [HSA:2746] [KO:K00261] (HHF7) SLC16A1 [HSA:6566] [KO:K08179] (HHF8) SLC25A36 [HSA:55186] [KO:K15116] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ジアゾキシド [DR:D00294] |
| コメント | Leucine-induced hypoglycemia (LIH) |
| リンク | ICD-11: 5A45 ICD-10: E16.1 MeSH: D006946 OMIM: 256450 240800 601820 602485 609975 609968 606762 610021 620211 |
| 文献 | PMID:16356235 著者 Lheureux PE, Zahir S, Penaloza A, Gris M タイトル Bench-to-bedside review: Antidotal treatment of sulfonylurea-induced hypoglycaemia with octreotide. 雑誌 Crit Care 9:543-9 (2005) DOI:10.1186/cc3807 PMID:21378225 著者 Palladino AA, Stanley CA タイトル Nesidioblastosis no longer! It's all about genetics. 雑誌 J Clin Endocrinol Metab 96:617-9 (2011) DOI:10.1210/jc.2011-0164 PMID:16357843 (HHF1/2) 著者 Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA タイトル Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 雑誌 Mod Pathol 19:122-9 (2006) DOI:10.1038/modpathol.3800497 PMID:15356046 (LIH) 著者 Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA タイトル Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. 雑誌 J Clin Endocrinol Metab 89:4450-6 (2004) DOI:10.1210/jc.2004-0441 PMID:9435328 (HHF3) 著者 Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC タイトル Familial hyperinsulinism caused by an activating glucokinase mutation. 雑誌 N Engl J Med 338:226-30 (1998) DOI:10.1056/NEJM199801223380404 PMID:11489939 (HHF4) 著者 Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE タイトル Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. 雑誌 J Clin Invest 108:457-65 (2001) DOI:10.1172/JCI11294 PMID:15161766 (HHF5) 著者 Hojlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H タイトル A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 雑誌 Diabetes 53:1592-8 (2004) DOI:10.2337/diabetes.53.6.1592 PMID:9571255 (HHF6) 著者 Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M タイトル Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. 雑誌 N Engl J Med 338:1352-7 (1998) DOI:10.1056/NEJM199805073381904 PMID:17701893 (HHF7) 著者 Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipila I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J タイトル Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. 雑誌 Am J Hum Genet 81:467-74 (2007) DOI:10.1086/520960 PMID:34576089 (HHF8) 著者 Jasper L, Scarcia P, Rust S, Reunert J, Palmieri F, Marquardt T タイトル Uridine Treatment of the First Known Case of SLC25A36 Deficiency. 雑誌 Int J Mol Sci 22:ijms22189929 (2021) DOI:10.3390/ijms22189929 |