[Inorganic pyrophosphates and parathormone in hypophosphatasia. Study of a family].
The serum concentration of parathormone is usually normal in hypophosphatasia, a rare disease with a defect of bone mineralisation and low serum alkaline phosphatase activity. Nevertheless there are three cases in the literature presenting a hyperparathyroidism with or without hypercalcemia. No anomaly of parathyroid was found at autopsy. The authors describe the first cases of hypophosphatasia with low serum concentration of parathormone and raise the possibility of a trouble in the calcium-parathormone feed-back. They also emphasize the interest of the urinary pyrophosphate excretion. Its increase seem to be the most constant and the most specific biological disorder.
D000328:Adult; D002675:Child, Preschool; D011756:Diphosphates / Q000652:urine*; D004983:Ethanolamines / Q000652:urine; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000378:metabolism*; D007223:Infant; D008297:Male; D010281:Parathyroid Hormone / Q000097:blood*
D011756:Diphosphates; D004983:Ethanolamines; D010281:Parathyroid Hormone; C005448:phosphorylethanolamine
Pyrophosphates inorganiques et parathormone dans l'hypophosphatasie. Etude d'une famille.