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Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia

  • Metabolic Diseases
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Abstract

A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.

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Abbreviations

FEHCO3 :

fractional excretion of bicarbonate

FEK :

fractional excretion of potassium

FENa :

fractional excretion of sodium

MMA:

methylmalonic acidaemia

RTA:

renal tubular acidosis

TRP:

tubular reabsorption of phosphate

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Ohura, T., Kikuchi, M., Abukawa, D. et al. Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia. Eur J Pediatr 150, 115–118 (1990). https://doi.org/10.1007/BF02072052

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  • DOI: https://doi.org/10.1007/BF02072052

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