Abstract

In the years 1973 to 1975 a systematic screening for clinically recognisable disorders of calcium/phosphate metabolism was carried out among 55,000 children, 0-14 years of age. Besides, serum alkaline phosphatase activity was determined in an unselected sample of 1070 children, and urinary calcium output was measured in 529 subjects. Detailed family investigation was performed in each of the positive cases. As a result of this programme 19 anomalies were discovered: 2 vitamin D-resistant hypophosphataemic rickets, 5 vitamin D-dependent rickets, 2 juvenile hypophosphatasia, 3 idiopathic hypercalcaemia, 7 idiopathic hypercalciuria. Considering only the index patients of the affected families, the following minimum estimate figures of prevalence could be calculated:

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