Renal tubular alkalosis with chronic hyperkalemia
ASN 30th Annual Meeting, San Antonio
J Am Soc Nephrol (Sep) 8:107A 1997
The authors describe a patient who conceivably has a "gain of function" mutation in renal H/K ATPase. The patient is a 45 year old woman with systolic hypertension, COPD (and a normal PCO2), and anxiety/somatization syndrome. Serum lytes: Na 138, K 5.3, Cl 95, HCO3 37; Ccr 91 ml/min; normal renin/aldo and response to ACTH; urine pH 6.0; TTKG (trans-tubular potassium gradient) 4.2 consistent with either a diminished effect of aldo or a primary renal tubular transport defect.
Comment: The authors planned to determine whether the patient had a previously described mutation in the cytoplasmic tail of a beta-subunit of H/K ATPase that is known to cause a gain of function. (David S. Goldfarb, M.D., NYU School of Medicine)
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ASN 30th Annual Meeting, San Antonio
Acidosis/alkalosis : Metabolic alkalosis
Acidosis/alkalosis : Hyperkalemia