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Infantile Bartter syndrome with sensorineural deafness

Disease definition

A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.

ORPHA:89938

Classification level: Subtype of disorder
  • Synonym(s):
    • Bartter syndrome type 4
    • Bartter syndrome type IV
    • Infantile Bartter syndrome with sensorineural hearing loss
  • 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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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.