Abstract
PHP is rare in infants. A girl with hypotonia, constipation and poor feeding from birth had markedly elevated serum concentrations of total Ca (3.33-3.59 mmol/1), free Ca (1.47-1.45 mmol/1) and PTH (1.44-1.40 ug/1), s-Ph (1.27-1.32 mmol/1) was low, and urinary excretion of Ca and Ph was normal. Treatment with Ca-restricted diet, prednison, calcitonin, phosphate and furosemid was not succesful, and a partial parathyroidectomy was performed at the age of 12 months. Histological examination showed “light-chief-cell” type. Following surgery, total s-Ca (2.98-3.04 mmol/1) and free s-Ca (1.59 mmol/1) and s-PTH (0.78-0.80 ug/1) concentration decreased, but remained above normal level.
A family study (n=30) revealed HcHc in the mother, sister and in 3 other relatives suggesting an autosomal dominant inheritance. The total s-Ca (2.87-3.05 mmol/1) and free s-Ca (1.50-1.53 mmol/1) were increased, s-Ph (0.9-1.05 mmol/1) and s-PTH concentrations were normal; urinary Ca and Ph excretions were low. These individuals have no symptoms of hypercalcemia. Urinary concentration of cyclic AMP was normal in the index patient as well as in the other family members. These diagnostic and therapeutical implications have to be considered.
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Lillqvist, K., Illum, N., Jacobsen, B. et al. Primary hyperparathyroidism (PHP) in infancy associated with familial hypocalciuric hypercalcemia (HcHc). Pediatr Res 15, 1542 (1981). https://doi.org/10.1203/00006450-198112000-00044
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DOI: https://doi.org/10.1203/00006450-198112000-00044