Tubular Na, K-ATPase deficiency, the cause of the congenital renal salt-losing syndrome.
In the serum of two infant sisters with a congenital renal salt-losing syndrome, Na was rather low and K considerably increased. Even with Na levels of 126 mval/1, sodium was excreted in the urine. Creatinine and hippurate clearances were normal. Primary disturbances of the steroid metabolism were not detectable; plasma cortisol was normal, aldosterone and renin were compensatorily increased. Treatment with DOCA was unsuccessful. Whereas the first infant died (in another hospital), the second one throve well with high oral substitution of NaCl. There was no pathological findings other than a moderate hyperplasia of the juxtaglomerular apparatus, in a kidney biopsy. Except for minimal activity in the ascending limb of Henle's loop, there was no membrane bound Na, K-ATPase in the microdissected tubules. This finding most probably explains the renal salt loss, as this enzyme is necessary for the transcellular flow of sodium and potassium.
D000251:Adenosine Triphosphatases / Q000172:deficiency*; D000304:Adrenal Cortex Function Tests; D005260:Female; D006801:Humans; D006929:Hyperaldosteronism / Q000175:diagnosis; D006947:Hyperkalemia; D007010:Hyponatremia; D007223:Infant; D007668:Kidney / Q000473:pathology; D007684:Kidney Tubules / Q000201:enzymology; D009318:Natriuresis; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis / Q000201:enzymology* / Q000473:pathology; D012964:Sodium / Q000378:metabolism*; D012965:Sodium Chloride / Q000627:therapeutic use
D012965:Sodium Chloride; D012964:Sodium; D000251:Adenosine Triphosphatases