[Familial hypocalciuric hypercalcemia. A new family].
A new example of familial hypocalciuric hypercalcaemia is reported. The family studied consists of 19 members over four generations. The first patient described in this study had already undergone a classical surgical operation for "primary hyperparathyroidism" before the correct diagnosis was established: that of a new syndrome described for the first time by Foley in 1972 and subsequently studied by Marx since 1977. The features of this syndrome are: hypercalcaemia accompanied by hypocalciuria, autosomal dominant transmission with strong penetrance, with early appearance of hypercalcaemia, absence of signs of familial multiple endocrine neoplasia, benign course and persistence of the hypercalcaemia despite classical sub-total parathyroidectomy. Following a family survey, the authors discovered eight other members of the family who also presented this syndrome.
D000328:Adult; D002118:Calcium / Q000652:urine*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D006961:Hyperparathyroidism / Q000175:diagnosis; D007668:Kidney / Q000503:physiopathology; D013997:Time Factors
D002118:Calcium
Hypercalcémie hypocalciurique familiale. Nouvelle famille.