pyrophosphate and Hypophosphatemia--Familial

Topics: Bone and Bones; Bone Development; Bone Diseases; Calcitonin; Calcium Metabolism Disorders; Child, Preschool; Densitometry; Diphosphates; Homeostasis; Humans; Hyperparathyroidism; Hypophosphatasia; Hypophosphatemia, Familial; Infant; Metabolism, Inborn Errors; Microradiography; Osteogenesis Imperfecta; Osteoporosis; Parathyroid Glands; Parathyroid Hormone; Phosphorus Metabolism Disorders; Pseudohypoparathyroidism; Rickets; Vitamin D

A patient with hypokalemic metabolic alkalosis, hypophosphatemia, and hypomagnesemia/hypocalcemia is described. Electrocardiography demonstrated the pattern of acute anterior myocardial infarction. Further evaluation revealed that the patient had not actually had the acute myocardial infarction and that the electrocardiographic change was a mere simulation. The possible role of hypomagnesemia in the pathogenesis of the electrocardiographic change and the interrelation between the metabolic disturbances noted are discussed.

Topics: Alkalosis; Diagnosis, Differential; Diphosphates; Electrocardiography; Humans; Hypocalcemia; Hypokalemia; Hypophosphatemia, Familial; Magnesium; Male; Metabolism, Inborn Errors; Middle Aged; Myocardial Infarction; Radionuclide Imaging; Technetium; Technetium Tc 99m Pyrophosphate

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.

Topics: Adult; Child, Preschool; Diphosphates; Ethanolamines; Female; Humans; Hypophosphatemia, Familial; Infant; Male; Parathyroid Hormone