Primary hyperparathyroidism in infants. Diagnostic and therapeutic difficulties

Abstract

On the basis of 3 infants with primary congenital hyperparathyroidism we discuss problems in the early diagnosis and interpretation of the results of laboratory findings. The lack of increased renal echogenicity and hypercalciuria, which is regularly present in idiopathic hypercalcaemia is emphasized. In contrast to secondary hyperparathyroidism caused by prolonged hypocalcaemia, e.g. in patients treated by longterm haemodialysis, the aetiology of primary hyperparathyroidism (pHPT) remained unclear although molecular genetic studies suggest that the development of parathyroid adenoma may be due to gene mutation in a cell. Congenital pHPT is a particularly rare condition usually due to diffuse hyperplasia of all parathyroid glands. Its inheritance is known to be autosomal. Three infants with congenital primary hyperparathyroidism were treated at the Child Health Centre in the years 1987-1988.