ContentsSynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Bartter disease
Other Resources UpToDate PubMed

Bartter disease

Contributors: Christine Osborne MD, Catherine Moore MD
Other Resources UpToDate PubMed

Synopsis

A rare autosomal recessive condition, with prevalence of 1 in 1 000 000, leading to a defect in sodium chloride reabsorption in the medullary thick ascending limb of the loop of Henle that often presents in childhood and is characterized by hypokalemia, metabolic alkalosis, hyperreninemia due to mild chronic volume depletion, hyperaldosteronism, and normal to slightly decreased serum magnesium level. Other clinical symptoms include production of dilute urine due to decreased urinary concentrating ability, increased urinary calcium excretion, growth retardation, and intellectual disability.

Bartter syndrome is classified as types I-IV. In addition, there is a phenotype called type V (also known as autosomal dominant hypocalcemia, or autosomal dominant hypoparathyroidism). Types I, II, IV, and IVb usually present in earlier life and with more severe disease, and types III and V present later in life with milder symptoms.

See also Gitelman Syndrome.

Codes

ICD10CM:
E26.81 – Bartter's syndrome

SNOMEDCT:
707742001 – Bartter syndrome

Differential Diagnosis & Pitfalls

  • Gitelman syndrome
  • Loop diuretic use
  • Chronic vomiting – Urine chloride will be low in this setting, which may help distinguish this process from Bartter disease.

Best Tests

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References

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Last Updated:10/01/2018
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Bartter disease
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Bartter disease : Vomiting, Constipation, Dehydration, Failure to thrive, Metabolic alkalosis, Polyuria, Polydipsia, K decreased
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