[Hypercalcemia in childhood. A boy with asymptomatic hypocalciuric hypercalcemia].
The diagnostic work-up of a patient with (familial) hypocalciuric hypercalcemia (FHH) is discussed. The patient showed no clinical signs of hypercalcemia. There were no indications of vitamin D intoxication. In the first degree family members no hypercalcemia was found. Physical examination was normal. In contrast to hyperparathyroidism, FHH is usually symptomless. Furthermore, FHH is characterized by a normal chloride/phosphate ratio, a normal, but relatively high, serum parathyroid hormone level, a relatively low urinary calcium excretion, a calcium-creatinine clearance ratio less than 0.01 and a normal cyclic AMP excretion.
D002118:Calcium / Q000652:urine*; D002648:Child; D003404:Creatinine / Q000652:urine; D000242:Cyclic AMP / Q000652:urine; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D008297:Male; D010710:Phosphates / Q000097:blood
D010710:Phosphates; D003404:Creatinine; D000242:Cyclic AMP; D002118:Calcium
Hypercalciëmie op de kinderleeftijd. Een jongen met asymptomatische hypocalciurische hypercalciëmie.