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
References
Batlle D (1981) Hyperkalemic hyperchloremic metabolic acidosis associated with selective aldosterone deficiency and distal renal tubular acidosis. Semin Nephrol 1:260–274
Batlle D, Grupp M, Gaviria M, Kurtzman NA (1982) Distal renal tubular acidosis with intact capacity to lower urinary PH. Am J Med 72:751–758
Broyer M, Guesry P, Burgess EA, Charpentier C, Lemonnier A (1974) Acidemie methyl malonique avec nephropathie hyperuricemique. Arch Fr Pediatr 31:543–552
Chan JCM, Alon U (1985) Tubular disorder of acid-base and phosphate metabolism. Nephron 40:257–279
Farebrother DA, Pincott JR, Simmonds HA, Warren DJ, Dillon MJ, Cameron JS (1981) Uric acid crystal induced nephropathy: evidence for a specific renal lesion in a gouty family. J Pathol 135:159–168
Kojima S (1979) Plasma aldosterone concentrations and plasma renin activity according to age and their relationships with electrolytes of plasma and erythrocytes and oral sodium intake in normal neonates and children. Folia Endocrinol Jpn 55:1019–1037 (in Japanese)
Kristjansson K, Laxdal T, Ragnarsson J (1986) Type 4 renal tubular acidosis (sub-type 2) associated with idiopathic interstitial nephritis. Acta Paediatr Scand 75:1051–1054
Leonard JV, Daish P, Naughten ER, Bartlett K (1984) The management and long term outcome of organic acidaemias. J Inherited Metab Dis 7 [Suppl 1]:13–17
McSherry E (1981) Renal tubular acidosis in childhood. Kidney Int 20:799–809
Morita J, Ito Y, Yoshino M, Koga Y, Yano S, Yoshida I, Yamashita F (1989) Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia. J Inherited Metab Dis 12:89–93
Oberholzer VG, Levin B, Burgess EA, Young WF (1967) Methylmalonic aciduria, an inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 42:492–504
Pitts RF, Ayer JL, Schiess WA (1949) The renal regulation of acid-base balance in man. III. The reabsorption and excretion of bicarbonate. J Clin Invest 28:35–44
Satoh T, Narisawa K, Igarashi Y, Saitoh T, Ichinohazama Y, Onodera H, Tada K, Oohara K (1981) Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia. Eur J Pediatr 135:305–312
Shioji R, Sasaki Y, Hurukawa Y, Saito H, Michimata Y, Furuyama T (1974) Oral administration of sodium bicarbonate to patients with renal tubular acidosis. Tohoku J Exp Med 114: 1–13
Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ (1989) Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 148:344–348
Whelan DT, Ryan E, Spate M, Morris M, Hurley RM, Hill R (1979) Methylmalonic acidaemia: 6 years clinical experience with two variants unresponsive to vitamin B12 therapy. Can Med Assoc J 120:1230–1235
Wolff JA, Storm C, Griswold W, Sweetman F, Kulovich S, Prodanos C, Nyhan WL (1985) Proximal renal tubular acidosis in methylmalonic acidemia. J Neurogenet 2:31–39
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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