Abstract
A 5-year-old boy with typical clinical and biochemical findings of hypophosphatasia of the late infantile-juvenile type has been observed. The patient's acid-base regulation and renal functions, such as glomerular filtration, concentration and acidifying capacity, proved to be normal; however, the tubular reabsorption of phosphates was impaired.
The paternal grandparents of the propositus were second and the maternal grand-grandparents third cousins. As to serum alkaline phosphatase acitivity and phosphoethanolamine excretion, eight heterozygots were found in the family. In these heterozygotes phosphate reabsorption was normal, alkaline phosphatase activity was significantly decreased in the urine, but normal or elevated in the granulocytes. When their marker features were examined, the small number of the hypophosphatasia gene-bearing patiens allowed no statistical analysis, but it was conspicuous that these persons were Rh negative, were nontasters for phenylthiocarbamide (PTC), and had an excess of ulnar loops in finger dermatoglyphics.
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Méhes, K., Klujber, L. 50. Clinical and genetic examinations in hypophosphatasia. Pediatr Res 5, 93–94 (1971). https://doi.org/10.1203/00006450-197102000-00055
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DOI: https://doi.org/10.1203/00006450-197102000-00055