Abstract
It is an uncommon disorder, of casual diagnosis, with asymptomatic hyperoalosmia, normal PTH, variable phosphatemia low excretion of Ca in urine, parathyroid tissue histologically normal. With predaminant autosomic pattern. Its prevalence and incidence is unknown. Physiopathology not yet defined. Without specific treatment, only symptomatic. Reason for the visit:Small size A5. Mother with history of metabolic alterations of Ca. Family study according to the model proposed by law for diagnosis (*).
Normal PTH No Rx signs of hyperparathyroidism. No multiple endocrine diseases.
Symptoms compatible with the Syndrame:fatigue overweight, polydypsia, artralgias, constipation, cramps, neurological disorders. None trascendent. Poor Ca intake. Premature A5 (600gr) under study. Cl biliary and renal lithiasis.
Conclusions:A family is presented with benign HyperCa hypocalciuria, of casual diagnosis, but which prevents inadequate diagnoses, erroneous therapies (corticoids) and aggressive therapies (parathyroidectomies) Which do not modify hyperCa.
(*) Am Intern Med 102:511, 1985
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Yanicowsky, M., Fernández, E. & Ortiz, E. 26 BENIGN FAMILIAL HIPOCALCIURIC HIPRCALCEMIA. Pediatr Res 32, 253 (1992). https://doi.org/10.1203/00006450-199208000-00049
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DOI: https://doi.org/10.1203/00006450-199208000-00049