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Bartter's syndrome
Also known as:
Schwartz-Bartter's syndrome
Associated persons:
Frederic Crosby Bartter
Hillel J. Gitelman
William Benjamin Schwartz
Description:
A syndrome characterised by hyperplasia of the juxtaglomerular cells of the kidney, hypokalemic alkalosis, and hyperaldosteronism, stimulation of the sympathetic nervous system and the kallikrin-krinin system, in the absence of oedema and with normal blood pressure.
Clinical features present in infancy or childhood and include anorexia, failure to thrive, polydipsia, polyuria and muscle weakness. Mental retardation may be a feature. It usually occurs in children and growth retardation is frequently associated. Aetiology is unknown. Inheritance is autosomal recessive.
According to some writers, Bartter's syndrome is not a single disorder but rather a set of closely related disorders that share many of the same physiologic derangements. These writers distinguish at least three phenotypes: Classic Bartter Syndrome, the Gitelman variant, and the antenatal variant (also termed hyperprostaglandin E syndrome).
In 1962 Bartter et al described a 25 year old man, a 5 year old boy, and a 6 year old girl, all African-Americans, with hypokalaemia, metabolic alkalosis, and hyperaldosteronism, yet normal blood pressure. The term Bartter's syndrome is the established eponym, although a co-author, Dr. Pacita Pronove-Irreverre, was the lead author of the preceding case report in 1960 of the 5 year old patient.
The term Pronove-Bartter syndrome has therefore been suggested.
See also Gitelman's Syndrome, under Hillel J. Gitelman, American physician.
Schwartz-Bartter syndrome is a separate entity characterized by hypertonicity of urine, hyponatremia and inability to excrete water load. See under William Benjamin Schwartz, American cardiologist, born 1922.
We thank Alex Pronove for information submitted.
Bibliography:
- P. Pronove, R. C. MacCardle, F. C. Bartter:
Aldosteronism, hypokalemia, and a unique renal lesion in a five year old boy.
Acta Endocrinologica. Supplement 6, Copenhagen, 1960, 51: 167-168.
- F. C. Bartter, P. Pronove, J. R. Gill Jr, R. C. MacCardle:
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome.
American Journal of Medicine, New York, 1962, 33: 811-828.
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