KEGG   DISEASE: H00239Help
Entry
H00239                      Disease                                

Name
Bartter syndrome
Description
Bartter syndrome(BS) is a heterogeneous rare disease unified by autosomal recessive transmission. BS 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. Type 5 is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.
Category
Endocrine disease; Urinary system disease
BRITE hierarchy
Pathway
hsa04960 Aldosterone-regulated sodium reabsorption  
 
Gene
(Type 1) SLC12A1 [HSA:6557] [KO:K14425]
(Type 2) KCNJ1 [HSA:3758] [KO:K04995]
(Type 3) CLCNKB [HSA:1188] [KO:K05018]
(Type 4A) BSND [HSA:7809]
(Type 4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
(Type 5) CASR [HSA:846] [KO:K04612]
Drug
Spironolactone [DR:D00443]
Soldactone [DR:D01943]
Triamterene [DR:D00386]
Indometacin [DR:D00141]
Other DBs
Reference
  Authors
Kleta R, Bockenhauer D
  Title
Bartter syndromes and other salt-losing tubulopathies.
  Journal
Nephron Physiol 104:p73-80 (2006)
Reference
  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)
Reference
PMID:15044642 (Type 4B)
  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)
Reference
  Authors
Hebert SC
  Title
Bartter syndrome.
  Journal
Curr Opin Nephrol Hypertens 12:527-32 (2003)
Reference
  Authors
Amirlak I, Dawson KP
  Title
Bartter syndrome: an overview.
  Journal
QJM 93:207-15 (2000)

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