| H00239 | |
| H number | H00239 |
| Name | Bartter syndrome |
| Description | 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. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB90.43 ICD-10: E26.8 MeSH: D001477 OMIM: 601678 241200 607364 602522 613090 300971 601198 |
| Reference | PMID:16785747 AUTHORS Kleta R, Bockenhauer D TITLE Bartter syndromes and other salt-losing tubulopathies. JOURNAL Nephron Physiol 104:p73-80 (2006) DOI:10.1159/000094001 PMID:12920401 AUTHORS Hebert SC TITLE Bartter syndrome. JOURNAL Curr Opin Nephrol Hypertens 12:527-32 (2003) DOI:10.1097/01.mnh.0000088732.87142.43 PMID:15056980 (SLC12A1, KCNJ1, CLCNKB, BSND) AUTHORS Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D TITLE Bartter's and Gitelman's syndromes: from gene to clinic. JOURNAL Nephron Physiol 96:p65-78 (2004) DOI:10.1159/000076752 PMID:15044642 (CLCNKA, CLCNKB) AUTHORS Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S TITLE Salt wasting and deafness resulting from mutations in two chloride channels. JOURNAL N Engl J Med 350:1314-9 (2004) DOI:10.1056/NEJMoa032843 PMID:27120771 (MAGED2) AUTHORS 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 TITLE Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. JOURNAL N Engl J Med 374:1853-63 (2016) DOI:10.1056/NEJMoa1507629 |