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Bartter syndrome

Disease definition

Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.

ORPHA:112

  • Synonym(s):
    • Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
    • Salt-losing tubular disorder, Henle's loop type
    • Salt-wasting tubulopathy, Henle's loop type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: E26.8
  • OMIM: 241200  300971  601198  601678  602522  607364  613090
  • UMLS: C0004775
  • MeSH: D001477
  • GARD: 5893
  • MedDRA: 10050839

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