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Infantile Bartter syndrome with sensorineural deafness

Disease definition

Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.

ORPHA:89938

  • Synonym(s):
    • Bartter syndrome type 4
    • Bartter syndrome type IV
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood
  • ICD-10: E26.8
  • OMIM: 602522  613090
  • UMLS: -
  • MeSH: -
  • GARD: 10508
  • MedDRA: -

Detailed information

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Further information on this disease

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