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Bartter syndrome with hypocalcemia

Disease definition

Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)

ORPHA:263417

  • Synonym(s):
    • Bartter syndrome type 5
    • Bartter syndrome type V
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: E26.8
  • OMIM: 601198
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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