Familial hypocalciuric hypercalcemia. Report of a new family.
We report a new family with familial hypocalciuric hypercalcemia (FHH) composed by 55 living members. Of 38 studied, 10 have been found to be affected by FHH. Differences between FHH and primary hyperparathyroidism are emphasized; lack of clinical features, relative hypocalciuria for the concomitant hypercalcemia and low phosphate excretion index. The PTH and urinary cAMP are normal. It is noteworthy that the disease is benign. None of our patients have undergone surgery, and all of them are asymptomatic.
D000328:Adult; D002118:Calcium / Q000652:urine*; D002675:Child, Preschool; D000242:Cyclic AMP / Q000652:urine; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics* / Q000652:urine; D007223:Infant; D008297:Male; D010375:Pedigree
D000242:Cyclic AMP; D002118:Calcium