title: Familial hypocalciuric hypercalcaemia: a study of four kindreds.
abstract: Four kindreds with hereditary hypercalcaemia have been investigated. Thirty-seven of 72 subjects examined had hypercalcaemia with an autosomal dominant pattern of inheritance. Hypercalcaemic patients had total serum calcium of 2.91 +/- 0.12 mmol l-1. Serum parathyroid hormone (PTH) was normal while daily urinary calcium excretion was subnormal (below 2.5 mmol) in 45%. Comparison with an age-matched group of patients with primary hyperparathyroidism gave a small overlap regarding serum human PTH, urinary calcium and the ratio between calcium clearance and creatinine clearance. Family screening therefore is of diagnostic importance. Twelve subjects had been subjected to parathyroid surgery before the correct diagnosis was settled, none of the cases had an adenoma. Three patients became normocalcaemic and the others had persistent hypercalcaemia. One male non-abuser had seven episodes of acute pancreatitis before surgery and none after. The findings in all four kindreds are compatible with familial hypocalciuric hypercalcaemia (FHH). This hereditary disorder of unknown aetiology, therefore, also exists in Scandinavia. It is of importance to consider FHH in the differential diagnosis of hypercalcaemia, since this disorder usually has a benign prognosis if untreated.
authors.affiliation: Department of Internal Medicine, University Hospital, Linköping, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Toss
authors.forename: H
authors.initials: H
authors.lastname: Arnqvist
authors.forename: L
authors.initials: L
authors.lastname: Larsson
authors.forename: O
authors.initials: O
authors.lastname: Nilsson
mesh_terms: D002118:Calcium / Q000097:blood; D003404:Creatinine / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006961:Hyperparathyroidism / Q000175:diagnosis; D008297:Male; D010280:Parathyroid Glands / Q000601:surgery; D010375:Pedigree; D012709:Serum Albumin / Q000032:analysis
chemical_list: D012709:Serum Albumin; D003404:Creatinine; D002118:Calcium