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.
Cord serum concentrations of the N-terminal propeptide of type-III procollagen(PIIIP), insulin-like growth factor I (IGF-I), thyroid-stimulating hormone (TSH) and free thyroxine were measured in 149 neonates, consisting of 22 small for gestational age, 95 appropriate for gestational age, 21 large for gestational age and 11 neonates of less than 24 weeks of gestation. Their gestational ages (GAs) ranged from 20 to 41 weeks. A significant negative correlation was found between PIIIP levels and GA (r = ––0.83, p < 0.001). No significant difference was found in PIIIP levels between SGA and LGA neonates, when there were no difference in their GAs, in spite of a significant difference in their birth body weights (p < 0.01). The high concentrations of the cord serum PIIIP did not appear to be influenced by either IGF-I or thyroid hormones, nor was there any relationship between PIIIP and the birth body weight, but only with GA, suggesting that determining cord levels of PIIIP seems to provide a useful parameter for the assessment of newborn maturity.
2). There was a significant correlation between AD and GOT activity, since the correlation coefficient was 0.3523 (p<0.05) between the two. There was no correlation between AD and GPT activity values, since the correlation coefficient was 0.1741 between the two. Studies were also made on the relationship between the value of the colloid reaction and that of AD activity. There was a significant correlation between the TIT value and AD activity value, since the correlation coefficient was 0.4737 (p<0.05) between the two.
In 37 infants, the blood levels of TSH were determined by the immunoradiometric assay (IRMA) and the relation between TSH and thyroid hormone was evaluated. The ranges of gestational age (weeks) and birth weight (g) of infants were 28-42 and 982-3,650, respectively. The birth weights of 19 infants were below 2,500 g. The free T4 levels in the low birth weight (LBW) infants were lower than those of the normal infants and significantly correlated to the birth weight (r = 0.64, P less than 0.01) and gestational age (r = 0.58, P less than 0.01). In addition, free T4 levels were significantly correlated to the levels of total T4 (r = 0.66, P less than 0.01). The concentrations of TSH measured by IRMA method were significantly correlated to those of free T4 (r = 0.51, P less than 0.01). From these data, we consider that the transient hypothyroxinemia observed frequently in LBW infants might be a physiological reaction regulated by hypothalamus and that thyroid hormone treatment should be avoided.
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