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August 1983

A Sibship With Hypokalemic Alkalosis and Renal Proximal Tubulopathy

Author Affiliations

From the Hypertension-Endocrine Branch, National Heart, Lung, and Blood Institute, and Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Md (Drs Güllner, Gill, and Dickman); Audie L. Murphy Veterans' Hospital, San Antonio, Tex (Dr Bartter); the Department of Immunopathology, Scripps Clinic and Research Foundation, La Jolla, Calif (Dr Wilson); and the Department of Surgery, UCLA School of Medicine (Dr Tiwari).

Arch Intern Med. 1983;143(8):1534-1540. doi:10.1001/archinte.1983.00350080040011

• A new syndrome, characterized by hypokalemic alkalosis, hyperreninemia, aldosterone, high urinary prostaglandin E2 excretion, normal BP, and resistance of BP to angiotensin II is described in three of four siblings. Histologic examination of tissue obtained by biopsy from the kidneys showed an intense staining of the proximal tubular cells, as well as an extreme hypertrophy of the proximal tubular basement membranes, features that previously have not been observed. On electron microscopic examination, the characteristic changes of the tubular cells consisted of very dense cytoplasm, compact mitochondria, and pyknotic nuclei. In contrast to Bartter's syndrome, the juxtaglomerular apparatus were of normal appearance. Glomerular filtration rate and renal plasma flow were within normal limits. Fractional distal delivery of proximal tubular solute and fractional chloride reabsorption in the thick ascending limb of the loop of Henle were normal. The findings of a genetic linkage between the syndrome and the major histocompatibility system suggests that this familial tubulopathy is an inherited disorder.

(Arch Intern Med 1983;143:1534-1540)

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