{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:34:14Z","timestamp":1759484054798},"reference-count":29,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Dis Child"],"published-print":{"date-parts":[[2001,6,1]]},"abstract":"<jats:p>We describe a 21 month old male infant who presented with failure to thrive associated with severe hypokalaemia and metabolic acidosis, together with hypomagnesaemia. Evaluation revealed marked renal and probable faecal potassium wasting, distal renal tubular acidosis, mild urinary magnesium wasting, and a normal gastric pH (gastric H<jats:sup>+<\/jats:sup>-K<jats:sup>+<\/jats:sup>-ATPase). Hypokalaemic forms of metabolic acidosis, such as diabetic ketoacidosis and proximal renal tubular acidosis were ruled out from the clinical picture. The hypokalaemia of distal renal tubular acidosis usually improves with alkali therapy, but this was not observed: despite correction of acidosis with 5 mmol\/kg potassium citrate per day, an additional 5 mmol\/kg potassium chloride was required to bring serum potassium to 3.5 mmol\/l. At 3 years of age potassium was provided in the absence of potential alkali and acidosis ensued; serum bicarbonate fell to 10 mmol\/l. Although a specific genetic analysis is not yet possible, the abnormalities are consistent with a novel form of distal renal tubular acidosis. The pathophysiology probably does not stem from defects in the vacuolar H<jats:sup>+<\/jats:sup>-ATPase but more likely from deficient activity of the colonic isoform of H<jats:sup>+<\/jats:sup>-K<jats:sup>+<\/jats:sup>-ATPase that is resident in the medullary collecting duct and mediates potassium absorption and proton secretion.<\/jats:p>","DOI":"10.1136\/adc.84.6.504","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T10:32:32Z","timestamp":1027765952000},"page":"504-507","source":"Crossref","is-referenced-by-count":16,"title":["Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H<sup>+<\/sup>-K<sup>+<\/sup>-ATPase deficiency"],"prefix":"10.1136","volume":"84","author":[{"given":"A M","family":"Simpson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G J","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2001,6,1]]},"reference":[{"key":"2021071919401942000_84.6.504.1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ph.55.030193.001543"},{"key":"2021071919401942000_84.6.504.2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V25949"},{"key":"2021071919401942000_84.6.504.3","doi-asserted-by":"crossref","first-page":"C685","DOI":"10.1152\/ajpcell.1997.272.2.C685","article-title":"Regulation of colonic H-K-ATPase in large intestine and kidney by dietary Na depletion and dietary K depletion.","volume":"272","author":"Sangan","year":"1997","journal-title":"Am J Physiol"},{"key":"2021071919401942000_84.6.504.4","first-page":"F433","article-title":"Expression of HK\u03b12 protein is increased selectively in renal medulla by chronic hypokalemia.","volume":"275","author":"Codina","year":"1998","journal-title":"Am J Physiol"},{"key":"2021071919401942000_84.6.504.5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI1720"},{"key":"2021071919401942000_84.6.504.6","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/S0022-3476(05)83487-0","article-title":"Urine-to-blood carbon dioxide tension gradient and maximal depression of urinary pH to distinguish rate-dependent from classic distal renal tubular acidosis in children.","volume":"122","author":"Strife","year":"1993","journal-title":"J Pediatr"},{"key":"2021071919401942000_84.6.504.7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1542\/peds.58.2.259","article-title":"A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine.","volume":"58","author":"Schwartz","year":"1976","journal-title":"Pediatrics"},{"key":"2021071919401942000_84.6.504.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)36251-4"},{"key":"2021071919401942000_84.6.504.9","first-page":"321","article-title":"Alterations of hydrogen ion homeostasis in pure potassium depletion: studies in rats and dogs during the recovery phase.","volume":"93","author":"Garella","year":"1979","journal-title":"J Lab Clin Med"},{"key":"2021071919401942000_84.6.504.10","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(81)90182-0"},{"key":"2021071919401942000_84.6.504.11","unstructured":"Cogan MG (1991) Fluid and electrolytes. 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