| H00239 | |
| H番号 | H00239 |
| 名称 | バーター症候群 |
| 概要 | Bartter syndrome is a heterogeneous rare disease unified by autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | (BARTS1) SLC12A1 [HSA:6557] [KO:K14425] (BARTS2) KCNJ1 [HSA:3758] [KO:K04995] (BARTS3) CLCNKB [HSA:1188] [KO:K05018] (BARTS4A) BSND [HSA:7809] [KO:K19331] (BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018] (BARTS5) MAGED2 [HSA:10916] [KO:K24127] (HYPOC1) CASR [HSA:846] [KO:K04612] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: GB90.43 ICD-10: E26.8 MeSH: D001477 OMIM: 601678 241200 607364 602522 613090 300971 601198 |
| 文献 | PMID:16785747 著者 Kleta R, Bockenhauer D タイトル Bartter syndromes and other salt-losing tubulopathies. 雑誌 Nephron Physiol 104:p73-80 (2006) DOI:10.1159/000094001 PMID:12920401 著者 Hebert SC タイトル Bartter syndrome. 雑誌 Curr Opin Nephrol Hypertens 12:527-32 (2003) DOI:10.1097/01.mnh.0000088732.87142.43 PMID:15056980 (SLC12A1, KCNJ1, CLCNKB, BSND) 著者 Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D タイトル Bartter's and Gitelman's syndromes: from gene to clinic. 雑誌 Nephron Physiol 96:p65-78 (2004) DOI:10.1159/000076752 PMID:15044642 (CLCNKA, CLCNKB) 著者 Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S タイトル Salt wasting and deafness resulting from mutations in two chloride channels. 雑誌 N Engl J Med 350:1314-9 (2004) DOI:10.1056/NEJMoa032843 PMID:27120771 (MAGED2) 著者 Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Gobel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmuller J, Nurnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Komhoff M タイトル Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. 雑誌 N Engl J Med 374:1853-63 (2016) DOI:10.1056/NEJMoa1507629 |