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Persistent hyperkalaemia in vitamin B 12 unresponsive methylmalonic acidaemia
Author(s) -
Morita J.,
Ito Y.,
Yoshino M.,
Koga Y.,
Yano S.,
Yoshida I.,
Yamashita F.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805536
Subject(s) - medicine , renal function , endocrinology , potassium , hyperkalemia , urine , excretion , reabsorption , sodium , creatinine , vitamin , renal physiology , chemistry , kidney , organic chemistry
Summary Persistent hyperkalaemia was found in a patient with vitamin B 12 unresponsive methylmalonic acidaemia associated with hyperuricaemia. At 3 years and 8 months of age, a serum potassium level of 6.8 mmol L −1 was found when blood gas measurement was normal. One year later azotaemia was noted. At the age of 5 years, renal function studies disclosed hyperaldosteronism, decreased creatinine clearance, reduction of the reabsorption of sodium at distal diluting segments and inadequate concentration of urine at the collecting ducts. The reduction of the reabsorption of sodium, which may have resulted in decreased potassium excretion, and the decrease in glomerular filtration rate, together with the superimposed excess intake of potassium, appeared to be responsible for the hyperkalaemia. Dietary potassium restriction was effective in suppressing the hyperkalaemia.