Autonomous hyperparathyroidism in X-linked hypophosphataemia

Four patients with familial hypophosphataemic rickets developed significant hypercalcaemia which persisted after discontinuation of vitamin D therapy. They had increased PTH levels and were operated for hyperparathyroidism at the ages of 18, 20, 24 and 45 years, respectively. Three of the patients h...

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Bibliographic Details
Published inClinical endocrinology (Oxford) Vol. 42; no. 2; p. 199
Main Authors Knudtzon, J, Halse, J, Monn, E, Nesland, A, Nordal, K P, Paus, P, Seip, M, Sund, S, Sødal, G
Format Journal Article
LanguageEnglish
Published England 01.02.1995
Subjects
Adult
Female
Genetic Linkage
Humans
Hypercalcemia - etiology
Hyperparathyroidism - blood
Hyperparathyroidism - complications
Hyperplasia
Hypophosphatemia, Familial - complications
Male
Middle Aged
Parathyroid Glands - pathology
Parathyroid Hormone - blood
X Chromosome
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Summary:Four patients with familial hypophosphataemic rickets developed significant hypercalcaemia which persisted after discontinuation of vitamin D therapy. They had increased PTH levels and were operated for hyperparathyroidism at the ages of 18, 20, 24 and 45 years, respectively. Three of the patients had previously received phosphate treatment and one patient developed hyperparathyroidism 7 years after treatment with calcitriol. Histological evaluation revealed different degrees of parathyroid hyperplasia in all patients, with persistently increased PTH and/or calcium levels after surgery. The possibility of autonomous hyperparathyroidism should be evaluated in the follow-up of patients with X-linked hypophosphataemic rickets.
ISSN:0300-0664
DOI:10.1111/j.1365-2265.1995.tb01863.x