pyrophosphate and Osteogenesis-Imperfecta

Topics: Adolescent; Adult; Anabolic Agents; Animals; Bone and Bones; Calcitonin; Calcium; Calcium Isotopes; Cattle; Child; Child, Preschool; Diphosphates; Female; Fluorides; Gonadal Steroid Hormones; Humans; Infant; Infant, Newborn; Magnesium Oxide; Middle Aged; Osteogenesis Imperfecta; Salmon; Swine

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

Topics: Alkaline Phosphatase; Calcium; Child; Child, Preschool; Dihydroxycholecalciferols; Diphosphates; Female; Humans; Hydroxyproline; Magnesium; Male; Osteogenesis Imperfecta; Phosphorus; Vitamin D

The tissue changes in osteogenesis imperfecta apparently lie in the collagen and in the glycosaminoglycans. The collagen shows structural development disturbance and incomplete calcification. The tissue glycosaminoglycans are increased. The basis probably lies in a disturbed ATP metabolism (Solomons and Millar, 1973). An increased pyrophosphate concentration explains the decreased calcification and the structural changes. The increased osteolysis could be explained by increased quantities of cAMP.

Topics: Bone Resorption; Cell Membrane Permeability; Collagen; Cyclic AMP; Diphosphates; Energy Metabolism; Glycosaminoglycans; Humans; Osteogenesis Imperfecta

Topics: Adolescent; Adult; Calcitonin; Child; Child, Preschool; Chromatography, Ion Exchange; Diphosphates; Evaluation Studies as Topic; Female; Humans; Infant; Infant, Newborn; Magnesium Oxide; Male; Methods; Middle Aged; Osteogenesis Imperfecta; Phosphorus Radioisotopes

Osteogenesis imperfecta during pregnancy presents increased risk to mother and fetus. In addition to the well-known skeletal changes, other recently recognized metabolic abnormalities also may lead to maternal and fetal problems during labor and delivery. A discussion of risk factors and their managment is presented. The importance of considering the possibility of fetal osteogenesis imperfecta is stressed, and cesarean section is presented as the method of choice for delivery. Important genetic factors including the lack of correlation between the severity of involvement of parent and offspring and the use of pyrophosphate analyses are discussed. An illustrative case is presented.

Topics: Adult; Amniotic Fluid; Cesarean Section; Connective Tissue; Diphosphates; Epistaxis; Female; Fractures, Bone; Humans; Osteogenesis Imperfecta; Otosclerosis; Pregnancy; Pregnancy Complications; Tooth Diseases

Topics: Adenosine Diphosphate; Blood Coagulation Factors; Blood Coagulation Tests; Blood Platelet Disorders; Blood Platelets; Chromatography, Ion Exchange; Collagen; Diphosphates; Humans; Lipoproteins; Osteogenesis Imperfecta; Phosphorus Isotopes; Platelet Adhesiveness; Thrombin

An isotope dilution method, using (32)P-labeled pyrophosphate, has been developed for the measurement of inorganic pyrophosphate (PP(1)) in human plasma. The specificity of the method was better than 90% as assessed by elution patterns during ion-exchange chromatography, by paper chromatography, and by incubation with inorganic pyrophosphatase. The 99% confidence limits for a single estimation of plasma PP(1) was +/-13%. There were no differences in plasma PP(1) between men and women, but the values in young people (0-15 yr) were slightly higher than in older people. The mean concentration (+/-SE) of PP(1) in the plasma of 73 men and women was 3.50 +/-0.11 mumoles/liter (0.217 +/-0.007 mug P/ml) and the normal range (99% limits) was 1.19-5.65 mumoles/liter (0.074-0.350 mug P/ml). It has been suggested that PP(1) may be important in calcium metabolism because PP(1) can prevent the precipitation of calcium phosphates in vitro and in vivo, and can slow the rates at which hydroxyapatite crystals grow and dissolve. Plasma PP(1) was therefore measured in several disorders of bone. Normal values were found in osteogenesis imperfecta, osteopetrosis, "acute" osteoporosis, and primary hyperparathyroidism. Plasma PP(1) was invariably raised in hypophosphatasia. The excess of PP(1) in plasma might be the cause of the defective mineralization in hypophosphatasia and the function of alkaline phosphatase in bone may be to act as a pyrophosphatase at sites of calcium deposition.

Topics: Adenine Nucleotides; Adenosine Triphosphate; Bone Diseases; Calcium; Chromatography, Ion Exchange; Chromatography, Paper; Dialysis; Diphosphates; Humans; Hypophosphatasia; Metabolism, Inborn Errors; Osteogenesis Imperfecta; Osteopetrosis; Phosphoric Monoester Hydrolases; Phosphorus Isotopes; Pyrophosphatases; Radioisotope Dilution Technique

Topics: Adolescent; Calcification, Physiologic; Child; Child, Preschool; Collagen; Crystallization; Diphosphates; Female; Humans; Infant; Infant, Newborn; Magnesium; Male; Osteogenesis Imperfecta; Pyrophosphatases