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Hyperkalemic distal renal tubular acidosis associated with Rett syndrome. Pediatr Nephrol 2006 Apr;21(4):588-90



Pubmed ID




Scopus ID

2-s2.0-33645328829 (requires institutional sign-in at Scopus site)   3 Citations


Renal function was studied in a 7-year-old girl with Rett syndrome (RS) complicated by persistent hyperchloremic hyperkalemic metabolic acidosis. The acidosis was associated with a urine pH above 5.5, positive urinary anion gap and decreased potassium excretion. Plasma renin activity, aldosterone and cortisol levels were normal. Therapy with sodium bicarbonate failed to lower urine pH below 5.5 or increase potassium excretion. Hydrochlorothiazide administration resulted in a fall in urine pH below 5.5 and an increase in potassium excretion as a result of increased distal sodium delivery and increased sodium reabsorption in the distal nephron. We conclude that a voltage-dependent type of derangement in the distal nephron, rather than aldosterone deficiency, is responsible for the impairment in urinary acidification observed in this patient. Early detection of impaired renal acidification in RS may prevent or slow the progression of growth failure.

Author List

Assadi F, Crowe C, Rouhi O


Colleen Crowe MD Associate Professor in the Emergency Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Acidosis, Renal Tubular
Rett Syndrome