Familial hypocalciuric hypercalcaemia as a differential diagnosis of hyperparathyroidism: Studies in a large kindred and a review of surgical experience in the condition
- 1 March 1986
- journal article
- review article
- Published by Oxford University Press (OUP) in British Journal of Surgery
- Vol. 73 (3), 188-192
- https://doi.org/10.1002/bjs.1800730310
Abstract
We have studied 46 members of a large kindred with familial hypocalciuric hypercalcaemia (FHH) after a neck exploration failed to cure hypercalcaemia in an asymptomatic patient. Serum calcium, serum phosphate, plasma parathormone and vitamin D metabolites do not distinguish affected members from patients with hyperparathyroidism. Because of the continuing debate as to whether or not FHH is a variant of, or distinct from, hyperparathyroidism, we have carried out a review of surgical experience with subtotal parathyroidectomy in hyperparathyroidism secondary to parathyroid hyperplasia and in FHH. Whereas the procedure is successful in 90 per cent of the former cases only one case of FHH has been cured by it. This provides evidence for the two conditions being aetiologically distinct. Before patients with asymptomatic hypercalcaemia are referred for parathyroid surgery the calcium:creatinine clearance ratio should be measured using a 2 h urine sample collected after an overnight fast and a fasting blood sample. If this ratio is less that 0·01 then screening of first degree relations should be undertaken before any parathyroid surgery is performed. Unnecessary surgery can therefore be avoided.Keywords
This publication has 32 references indexed in Scilit:
- PRIMARY HYPERPARATHYROIDISM IN INFANCY ASSOCIATED WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIAActa Paediatrica, 1983
- Subtotal Parathyroidectomy for Primary HyperparathyroidismArchives of Surgery, 1983
- An Association between Neonatal Severe Primary Hyperparathyroidism and Familial Hypocalciuric Hypercalcemia in Three KindredsNew England Journal of Medicine, 1982
- The Hypocalciuric or Benign Variant of Familial Hypercalcemia: Clinical and Biochemical Features in Fifteen KindredsMedicine, 1981
- Familial hypocalciuric hypercalcaemia and acute pancreatitis.BMJ, 1981
- Family studies in patients with primary parathyroid hyperplasiaAmerican Journal Of Medicine, 1977
- The Surgical Aspects of HyperparathyroidismArchives of Surgery, 1975
- Success Rate of Cervical Exploration for HyperparathyroidismArchives of Surgery, 1975
- Factors Influencing the Assay of CreatinineAnnals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1975
- Familial benign hypercalcemiaThe Journal of Pediatrics, 1972