bartter syndrome

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bartter syndrome

Bartter’s syndrome is a hereditary disease (see also Appendix 2. Hereditary diseases: mapped phenotypes) with a pronounced decrease in BCC due to loss of electrolytes from the kidneys, associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels. The last two features distinguish patients with this syndrome from those with Gitelman’s syndrome, who, in addition to hypokalemic alkalosis and salt loss, exhibit hypocalciuria and hypomagnesaemia. Patients are severely ill from birth, and with a long clinical course, nephrocalcinosis often develops, leading to renal failure.

Clinical picture

    • The absence of arterial hypertension is an important differential diagnostic sign
    • Lagging behind in physical and mental development
    • Muscle weakness and muscle cramps.

Diagnostics

    • Erythrocytosis
    • Decreased platelet aggregation
    • Significant increase in plasma renin and aldosterone levels
    • Hyperchloruria (hypochloremia)
    • hypokalemia
    • Hyponatremia
    • Hypomagnesemia
    • Hypercalcemia and hypercalciuria
    • Hyperphosphatemia
    • Increased urinary excretion of prostaglandins and kallikrein.

Treatment

    • A diet rich in potassium and chloride
    • Replacement therapy with potassium products
    • Spironolactone
    • Captopril
    • propranolol (anaprilin)
    • Indomethacin

Synonyms

    • Hypokalemic alkalosis with hypercalciuria
    • Alkalosis hypokalemic

ICD.? 26.8? Other forms of hyperaldosteronism MSH

  • 241200 Bartter’s syndrome
  • 263800 Gitelman syndrome Literature. Bartter FC et al: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am. J. Med. 33: 811-828, 1962; Simon DB et al: Mutations in the gene CLCNKB cause Bartter’s syndrome type III. Nature Genet. 17:171-178, 1997