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Gordon's syndrome (Richard D. Gordon)

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A rare familial renal tubular defect marked by short stature, weakness, intellectual impairment and other anomalies.

Description

A rare familial renal tubular defect characterised by hyperkalemia despite normal glomerular filtration, hypertension and correction of physiologic abnormalities by thiazide diuretics. Clinical findings include short stature, muscle weakness, intellectual impairment, dental abnormalities, impaired growth during childhood, severe hypertension by third decade.

The syndrome is caused by a mutation in the chloride channel in the distal renal tubule which results in enhanced chloride reabsorption. Inheritance is autosomal dominant.

We thank Roger Crouse, MD, for calling our attention to this syndrome.

Spitzer-Weinstein syndrome is a similar entity described in children characterized by short stature, hyperkalemic metabolic acidosis, normal blood pressure, and normal aldosterone levels.

Bibliography

  • R. Gordon, R. Geddes, C. Pawsey, M. O'Halloran:
    Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction.
    Australasian Annals of Medicine, November 1970, 19 (4): 287-294.
  • R. D. Gordon:
    Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate.
    Hypertension, Dallas, February 1986, 8 (2): 93-102.
  • R. D. Gordon, T. J. Tunny, S. A. Klemm, S. M. Hamlet:
    The syndrome of hypertension and hyperkalemia with normal glomerular filtration rate: a rare form of hypertension.
    In: John H. Laragh and B. M. Brenner, editors: Hypertension: Pathophysiology, Diagnosis, and Management. New York: Raven Press Ltd., 1990: 1625-1638.
  • J. L. Lantz, M. Davidson, H. Smitherman:
    A case of symptomatic hyperkalemia secondary to type 2 pseudohypoaldosteronism (Gordon's Syndrome).
    Presented to the American College of Physicians, Traverse City, MI, 1994.
  • Richard D. Gordon, Shelley A. Klemm, Terry J. Tunny, and Michael Stowasser:
    Gordon's Syndrome: A Sodium-Volume Dependent Form of Hypertension with a Genetic Basis.
    In: John H. Laragh: Hypertension: Pathophysiology, Diagnosis, and Management. 2 volumes. Lippincott Williams & Wilkins, 1995, 3219 pages.
  • B. Kirshon, J. Edwards, D. B. Cotton:
    Gordons's syndrome in pregnancy. American Journal of Obstetrics and Gynecology, St. Louis, 1987, 156 (5):1110-1111.

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