| H00512 | |
| H番号 | H00512 |
| 名称 | 新生児永続型糖尿病 |
| 概要 | Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | (PNDM1) GCK [HSA:2645] [KO:K12407] (PNDM2) KCNJ11 [HSA:3767] [KO:K05004] (PNDM3) ABCC8 [HSA:6833] [KO:K05032] (PNDM4) INS [HSA:3630] [KO:K04526] (PAGEN1) PDX1 [HSA:3651] [KO:K07594] (PACA) PTF1A [HSA:256297] [KO:K09073] (IPEX) FOXP3 [HSA:50943] [KO:K10163] (NDH) GLIS3 [HSA:169792] [KO:K09232] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: KB60.2Y ICD-10: P70.2 MeSH: C563424 C563425 C563796 OMIM: 606176 618856 618857 618858 260370 609069 304790 610199 |
| 文献 | PMID:17349054 著者 Polak M, Cave H タイトル Neonatal diabetes mellitus: a disease linked to multiple mechanisms. 雑誌 Orphanet J Rare Dis 2:12 (2007) DOI:10.1186/1750-1172-2-12 PMID:21054355 著者 Rubio-Cabezas O, Klupa T, Malecki MT タイトル Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. 雑誌 Eur J Clin Invest 41:323-33 (2011) DOI:10.1111/j.1365-2362.2010.02409.x PMID:11372010 (GCK) 著者 Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI タイトル Neonatal diabetes mellitus due to complete glucokinase deficiency. 雑誌 N Engl J Med 344:1588-92 (2001) DOI:10.1056/NEJM200105243442104 PMID:15115830 (KCNJ11) 著者 Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT タイトル Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. 雑誌 N Engl J Med 350:1838-49 (2004) DOI:10.1056/NEJMoa032922 PMID:16613899 (ABCC8) 著者 Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S タイトル A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 雑誌 Hum Mol Genet 15:1793-800 (2006) DOI:10.1093/hmg/ddl101 PMID:17855560 (INS) 著者 Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI タイトル Insulin gene mutations as a cause of permanent neonatal diabetes. 雑誌 Proc Natl Acad Sci U S A 104:15040-4 (2007) DOI:10.1073/pnas.0707291104 PMID:20009086 (PDX1) 著者 Nicolino M, Claiborn KC, Senee V, Boland A, Stoffers DA, Julier C タイトル A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 雑誌 Diabetes 59:733-40 (2010) DOI:10.2337/db09-1284 PMID:15543146 (PTF1A) 著者 Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS タイトル Mutations in PTF1A cause pancreatic and cerebellar agenesis. 雑誌 Nat Genet 36:1301-5 (2004) DOI:10.1038/ng1475 PMID:16741580 (FOXP3) 著者 Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG タイトル Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 雑誌 J Clin Invest 116:1713-22 (2006) DOI:10.1172/JCI25112 PMID:16715098 (GLIS3) 著者 Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D, Julier C タイトル Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 雑誌 Nat Genet 38:682-7 (2006) DOI:10.1038/ng1802 |