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Antenatal Bartter syndrome

Disease definition

A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome

ORPHA:93604

Classification level: Subtype of disorder
  • Synonym(s):
    • Bartter syndrome, furosemide type
    • Bartter syndrome, furosemide-amiloride type
    • Hyperprostaglandin E syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: E26.8
  • OMIM: 241200  300971  601678
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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