pyrophosphate and Muscular-Diseases

We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease.. Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC. Although some of the identified causative mechanisms are not easy to target for treatment, it has become clear that a disturbed serum phosphate/pyrophosphate ratio is a major force triggering arterial and cardiac valve calcification. Further studies will focus on targeting the phosphate/pyrophosphate ratio to effectively prevent and treat these calcific disease phenotypes.

Topics: Abnormalities, Multiple; Aortic Diseases; Basal Ganglia Diseases; Calcinosis; Cartilage Diseases; Dental Enamel Hypoplasia; Diphosphates; Enzyme Replacement Therapy; Gaucher Disease; Hand Deformities, Congenital; Humans; Hyperostosis, Cortical, Congenital; Hyperphosphatemia; Interferons; Metacarpus; Muscular Diseases; Odontodysplasia; Osteoporosis; Phosphates; Progeria; Pseudoxanthoma Elasticum; Pulmonary Valve Stenosis; Vascular Calcification

Topics: Calcium; Diphosphates; Diphosphonates; Humans; Kidney Calculi; Muscular Diseases; Pain; Phosphates

Topics: Animals; Body Mass Index; Bone Diseases; Chemical Industry; Diphosphates; Erythrocytes; Female; Fertilizers; Humans; Leukocytes; Male; Mice; Muscular Diseases; Nervous System Diseases; Occupational Diseases

Topics: Aged; Aged, 80 and over; Calcinosis; Calcium Pyrophosphate; Crystallization; Diphosphates; Female; Fingers; Humans; Muscular Diseases; Rupture, Spontaneous; Tendons

A retrospective review was done of 34 extremities studied between 1981 and 1985 with technetium-99m pyrophosphate scanning; 22 were subsequently amputated. Results of detailed pathologic examination or immediate postoperative examination of the resected extremity were available in 16 cases. In these cases, scanning had allowed correct prediction of the level of amputation and of the specific areas of muscle infarction in 13 cases. In the one case in which amputation was performed for infection rather than muscle necrosis, the lack of necrosis was correctly predicted with the scan. The limited results of this study indicate that the Tc-99m pyrophosphate scan allows the location of necrotic muscle to be predicted accurately and may therefore be a useful adjunct in determining the best level for ultimate amputation. Special caution is required in those cases in which muscle necrosis is due to acute causes (e.g., traumatic thrombosis) rather than chronic vascular disease.

Topics: Amputation, Surgical; Diphosphates; Extremities; Humans; Muscles; Muscular Diseases; Necrosis; Radionuclide Imaging; Regional Blood Flow; Retrospective Studies; Technetium; Technetium Tc 99m Pyrophosphate

Topics: Aged; Bone Diseases; Calcium Pyrophosphate; Crystallization; Diphosphates; Humans; Hypertrophy; Ligaments; Male; Muscular Diseases; Spinal Stenosis

Topics: Adult; Angiography; Diphosphates; Hernia; Humans; Male; Muscular Diseases; Radionuclide Imaging; Technetium; Technetium Tc 99m Pyrophosphate; Thigh; Tomography, X-Ray Computed

This paper reports the findings on two patients with McArdle syndrome (myophosphorylase deficiency) in whom conventional bone scans with Tc-99m pyrophosphate revealed intense muscle labeling following exercise tests. The temporal pattern observed was similar to that seen with other types of muscle damage. The prolonged cramps often occurring with this entity appears to produce muscle damage that is readily demonstrable using conventional bone-scanning techniques.

Topics: Adult; Diphosphates; Female; Glycogen Storage Disease; Glycogen Storage Disease Type V; Humans; Male; Middle Aged; Muscular Diseases; Radionuclide Imaging; Technetium

The present studies performed in experimental animals demonstrate that electrical direct current cardioversion can produce skeletal muscle damage and increased technetium-99m stannous pyrophosphate (99mTc-PYP) uptake; in experimental animals the electrically damaged skeletal muscle shows necrosis with extensive calcium deposition. In addition, the frequent administration of high energy cardioversion produces myocardial necrosis with calcium deposition, increased 99mTc-PYP myocardial uptake and a positive 99mTc-PYP myocardial scintigram. The data indicate that, if diagnostic 99mTc-PYP myocardial scintigraphy is contemplated after cardioversion, paddle placement should be slightly removed from the anteroposterior projection of the heart on the external chest wall to avoid possible subsequent confusion between increased myocardial and skeletal muscle uptake of 99mTc-PYP. If multiple high energy cardioversion episodes are necessary, myocardial necrosis resulting from electrical injury may occur and be responisble for increased myocardial uptake of 99mTc-PYP with a resultant positive 99mTc-PYP myocardial scintigram.

Topics: Animals; Diphosphates; Dogs; Electric Countershock; False Positive Reactions; Muscles; Muscular Diseases; Myocardial Infarction; Myocardium; Necrosis; Radionuclide Imaging; Technetium

Topics: Creatine; Creatinine; Diphosphates; Fructose; Fructosediphosphates; Glycolysis; Hexosephosphates; Humans; Muscular Diseases; Muscular Dystrophies; Urinalysis

Topics: Diphosphates; Disease; Muscle Weakness; Muscles; Muscular Diseases; Parasympathomimetics; Pyridostigmine Bromide