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  • 1
    ISSN: 1432-1076
    Keywords: Methylmalonic acidaemia ; Type 4 renal tubular acidosis ; Chronic renal disease ; Tubulo-interstitial nephritis ; Hyporeninaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Breast milk jaundice ; Liver dysfunction ; Cholestasis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To clarify the relationship between hyperbilirubinaemia and abnormal results of biochemical liver function tests in infants with breast milk jaundice (BMJ), 58 breast-fed infants with indirect hyperbilirubinaemia were enrolled in this study. Sera obtained from the above infants were subjected to routine liver function tests. Although serum transaminases were within normal limits in all 58 patients, serum alkaline phosphatase levels were abnormally increased in 13, gamma-glutamyltranspeptidase in 8 and total bile acids in 11 out of all patients examined. A total of 18 (31%) patients had abnormal results in at least one item of the liver function tests. The intrinsic bile acid loading test showed postprandial increases in bile acids in 5 of 16 (31%) patients examined at either 60 or 120 min, while all 13 breast-fed, agematched controls had no abnormal results. The decrease in rate of serum bilirubin levels after the 3-day discontinuation of breast-feeding was significantly less in patients with increased fasting bile acids than in patients with normal fasting levels of serum bile acids. These results may suggest that mild hepatic dysfunction or cholestasis is associated with indirect hyperbilirubinaemia in some infants with BMJ.
    Type of Medium: Electronic Resource
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