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Gitelman's syndrome

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A variant of Bartter's syndrome characterized by hypokalaemia, hypomagnesaemia and hypocalcuria.

Description

Gitelman's syndrome is a variant of Bartter's syndrome associated with hypokalaemia, hypomagnesaemia and hypocalcuria.

Gitelman in 1966 discovered that some patients with Bartter's syndrome showed a different myriad of symptoms. Gitelman's syndrome presents at a later age and the patients are less likely to be short or to have polyuria-polydipsia. Paediatric cases typically present in the school age period with fatigue, muscle weakness, and symptoms of neuromuscular irritability. There is no racial predisposition or gender preference for either Bartter's or Gitelman's. Gitelman syndrome is a more benign disorder than Bartter's and also more common, but is still a rare disorder. Prognosis for normal growth and neurointellectual development is good. Both are inherited as autosomal recessive traits.

In 1966 Gitelman et al described three patients who had the similar characteristics of Bartter's syndrome except that all were hypomagnesemic, whereas most of those with Bartter syndrome have normal serum magnesium concentrations.

See also Bartter's syndrome, under Frederic Crosby Bartter, American physician, 1914-1985.

We thank Sara Sambandham for information submitted.

Bibliography

  • H. J. Gitelman:
    Hypokalemia, hypomagnesemia, and alkalosis.
    The Journal of Pediatrics, St. Louis, MO, 1992, 120: 79-80.
  • Bettinelli et al:
    Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes.
    The Journal of Pediatrics, St. Louis, MO, 1992, 120: 38-43.
  • H. J. Gitelman, J. B. Graham, L. G. Welt:
    A new familial disorder characterized by hypokalemia and hypomagnesemia.
    Transactions of Association of American Physicians, 1966, 79: 221-235.
  • H. J. Gitelman, J. B. Graham, L. G. Welt:
    A familial disorder characterized by hypokalemia and hypomagnesemia.
    Annals of the New York Academy of Sciences, New York, 1969, 162: 856-64.
  • H. J. Gitelman:
    Unresolved issues in the pathogenesis of Bartter's syndrome and its variants.
    Current Opinion in Nephrology and hypertension, London, 1994, 3: 471-474.

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