Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 65-year-old female patient was admitted with complaining chiefly of lower back pains and arthralgia in the bilateral knee joints of 10-years duration. The serum calcium concentration was normal or only slightly increased, whereas the serum intact PTH and 1,25-dihydroxyvitamin D concentrations were substantially increased. Serum phosphate and 25-hydroxyvitamin D concentrations were decreased. Renal function was normal. Serum alkaline phosphatase activity, the osteocalcin concentration and urinary hydroxyproline excretion were markedly increased. Bone X-ray examination showed severe osteopenia and bone biopsy revealed hyperosteoidosis without tetracycline deposition, consistent with osteomalacia. A parathyroid adenoma was demonstrated by echography and CT-scan. Surgical exploration of the neck revealed a chief cell adenoma behind the right upper pole of the thyroid gland. After parathyroidectomy, all the abnormal biochemical data gradually normalized and the patient has been doing well without any symptoms for the last 13 months. These clinical data suggest that osteomalacia of the patient was probably induced by hypophosphatemia of prolonged duration. When hypercalcemia is not evident in a patient with primary hyperparathyroidism, in whom serum alkaline phosphatase and intact PTH levels are inappropriately increased, osteomalacia should be taken into consideration.
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PMID:A patient with primary hyperparathyroidism associated with osteomalacia: markedly increased serum levels of intact PTH and 1,25-dihydroxyvitamin D with normo- and hypercalcemia. 795 85

This article reports the diagnostic experiences of 134 cases of primary hyperparathyroidism (PHPT) confirmed by operation and pathologic examination. The clinical presentations were divided into 4 types: (1) 75 cases (56.0%) with bone resorption; (2) 47 cases (35.0%) with bone lesions plus urinary calculus; (3) 8 cases (6.0%) with urinary calculus only and; (4) 4 cases (3.0%) with hypercalcemia only. Bone lesions included bone resorption, osteomalacia and osteoporosis. Stones at multiple sites in the urinary tract or nephrocalcinosis were found in 41 cases. The measurement of ionized calcium was much more sensitive and accurate than the total calcium assay with the positive rate of 95.3% and 73.4% respectively. The concentration of plasma iPTH was high in the whole group (n = 84), the mean value was 21.4 +/- 17.9 times higher than that of the normal control group. For the localization of the affected parathyroid gland, instiat examination was by neck ultrasonography which gone a positive predictive value of 81.5% (43/53), 99mTc-MIBI scan showed positive rate 94.1% (16/17). The CT scan of the chest was used when ectopic location in mediastinum was highly suspected. If the first operative exploration failed to find the affected parathyroid gland, we performed the determinations of iPTH with samples taken from internal jugular vein through selective venous catheterization; the coincidence rate was found to be 85.2% (23/27).
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PMID:[The diagnosis of primary hyperparathyroidism--analysis of 134 cases]. 795 61

Though vertebral fractures were required to make the diagnosis of osteoporosis prior to the advent of methods for accurate bone measurement, osteopenia is readily defined by a decrease of bone mineral density by 2 to 2.5 SD from the peak bone density. After excluding other metabolic bone diseases such as primary hyperparathyroidism, osteomalacia, renal osteodystrophy, multiple myeloma and tumor metastases by means of X-ray studies and biochemical studies on serum and urine, by far the largest proportion of patients with osteopenia are usually found to have osteoporosis. Primary osteoporosis is found in males and females after middle age, and secondary osteoporosis at any age with definite causes such as corticosteroid excess, immobilization, rheumatoid arthritis or vitamin C deficiency. Estrogen withdrawal in young women is classified as secondary osteoporosis, but postmenopausal osteoporosis with similar cause is usually classified into primary osteoporosis, creating a confusion. Rapid bone loss occurring only during a few years after menopause should be clearly distinguished from the life-long process of bone loss common to males and females and should not be classified as a "type" of osteoporosis.
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PMID:[Osteoporosis--concept, classification and epidemiology]. 796 67

Controversy continues as to which method of measuring bone mineral density (BMD) best detects osteoporosis and best correlates with fractures of the spine, hip and elsewhere. To answer these questions the prevalence of fractures was carefully determined among 90 subjects (70 with osteoporosis, 6 with mild primary hyperparathyroidism, 1 with osteomalacia and 13 normals) and simultaneous measurements were made using spinal computed tomography (QCT), spinal anteroposterior (AP) and supine lateral dual X-ray absorptiometry (DXA), femoral neck and total hip DXA, and distal third radial DXA and single photon absorptiometry (SPA). The DXA measurements which had the greatest sensitivity in detecting osteoporosis (defined as a BMD lower than -2.5 SD of peak bone mass at age 30 years) were the supine lateral spine DXA (84%) and femoral neck DXA (75%); less sensitive were the DXA measurements of the distal third of the radius (61%) and AP spine (51%). DXA measurements of the femoral neck and distal third of the radius were more useful than spinal measurements in detecting the osteopenia of mild primary hyperparathyroidism. Vertebral compression fractures (VCF) correlated well with spinal QCT (r = 0.38) and lateral spine DXA (r = -0.41), but poorly with AP spine DXA (r = -0.17) and distal third radial DXA (r = -0.02). Non-spinal fractures correlated best with the distal third radial DXA (r = -0.42). In conclusion, spinal QCT, supine lateral spine DXA and femoral neck DXA are the best BMD methods to screen for osteoporosis, whereas AP spine DXA is a poor screening method in women over 60 years of age. Spinal QCT and lateral spine DXA correlate well with VCFs, whereas correlations of VCFs with AP spine DXA, femoral neck DXA and distal third radial DXA are poor.
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PMID:Correlations of dual-energy X-ray absorptiometry, quantitative computed tomography, and single photon absorptiometry with spinal and non-spinal fractures. 920 37

The majority of the patients with advanced prostate carcinoma have painful skeletal metastases, which are responsible for significant skeletal morbidity and disability. Most of these metastases are osteosclerotic, but it has been shown that the abnormal osteoblastic bone formation within metastases is preceded by osteoclastic activation, which appears to be associated with bone pain. This provides the rationale for using bisphosphonates, which are powerful and selective inhibitors of osteoclastic bone resorption. Several bisphosphonates have been shown to be clinically useful for the treatment of several conditions characterized by abnormal osteoclastic bone resorption, including Paget's disease, primary hyperparathyroidism, myelomatosis, and skeletal metastases. Its efficacy in relieving pain in patients with skeletal metastases due to prostate carcinoma has been confirmed in a few studies. The bisphosphonate clodronate was extensively investigated in the study unit. When infused intravenously i.v. (300 mg/day) relief of bone pain become appreciable within 3 days, sometimes preceded by a transient pain flare. These clinical results are very consistent and the residual pain usually is of extraosseous origin. Thus, with regard to pain of strictly bone origin, unresponsive patients are quite rare. Oral administration also is effective, but due to its limited intestinal absorption the effective dose is on the order of 1600-3200 mg/day. These doses usually are well tolerated, but they may be a problem for severely ill patients. Furthermore, the efficacy of treatment becomes apparent only after a few days. Thus, oral clodronate usually is adopted as a continuation of an i.v. course. The duration of the i.v. therapy should be individualized, but usually the more prolonged the treatment the longer the duration of the effect. For practical reasons, clodronate is infused daily for 5 days (Monday-Friday) and the treatment course is repeated at the time of any significant recurrence. The oral continuation prevents or delays the recurrence of bone pain in most patients, but in some patients this therapy has to be integrated occasionally with i.v. infusion. The duration of the effect for the same bioavailable dose is somewhat related to the degree of malignancy of the primary tumor. In an uncontrolled study, the author also evaluated the effectiveness of alendronate given either i.v. or orally. A single infusion of 5 mg alendronate i.v. produces roughly the symptomatic effect of 5 i.v. infusions of 300 mg clodronate. Alendronate, 40 mg orally/day, was effective in reducing bone pain in 11 of 12 patients with bone metastases due to prostate carcinoma but who were not confined to bed. In some patients with prostate carcinoma and a diffuse metastatic invasion of the skeleton, there is indirect biochemical and histologic evidence of osteomalacia. This can be aggravated by bisphosphonate administration because of the transient striking prevalence of osteoblastic activity over bone resorption, which also occasionally causes the appearance of symptomatic hypocalcemia. Therefore, the use of large oral supplements of calcium is recommended, particularly at the start of therapy. It is conceivable that these calcium supplements also may be able to improve the final clinical outcome of the bisphosphonate therapy. In conclusion, administration of large doses of bisphosphonates is one of the most cost-effective palliation treatments for patients with prostate carcinoma with bone metastases, both as first-line therapy and in the long term. With appropriate doses, a large proportion of patients can be maintained free of bone pain until death. Studies of the ability of lower doses to prevent skeletal morbidity in patients without metastases or with asymptomatic bone lesions are warranted.
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PMID:Bisphosphonates in prostate carcinoma. 936 35

We evaluated a novel assay for the measurement of 1,25 dihydroxyvitamin D (1,25 (OH)2D). Immunoextraction of 1,25(OH)2D is performed using a mini column containing a solid-phase monoclonal antibody followed by radioimmunoassay (RIA) using an 125I-labelled 1,25(OH)2D derivative tracer and Sac-cell separation. The mean recovery of 1,25(OH)2D3 was 101%, linearity was excellent, inter- and intra-assay coefficients of variation were 9, 8 and 13% and 11, 10 and 14% at low, medium and high concentrations of 1,25 (OH)2D3, respectively. The cross-reactivity of vitamin D metabolites was < 0.0015% for 25-hydroxyvitamin D3, 24, 25 dihydroxyvitamin D3 and dihydrotachysterol and 0.54% for 1 alpha calcidol. 1,25 dihydroxyvitamin D2 cross-reactivity was 79%. The detection limit of the assay was 5 pmol/L. Comparison with a commercial radio receptor assay (RRA) and an in-house RIA gave regression equations of y = 0.94x + 11.8 (r = 0.98) and y = 0.91x-1.7 (r = 0.95), respectively, with no major discrepancies between the methods in all patient groups studied. Plasma concentrations of 1,25(OH)2D obtained with the assay were as follows: normal, unsupplemented subjects: mean 88, range 48-155 pmol/L, n = 68, patients with chronic renal failure: mean 11, range 3-36 pmol/L, n = 27, primary hyperparathyroidism: mean 198, range 130-299 pmol/L, n = 23, Paget's disease: mean 92, range 42-149 pmol/L, n = 24, osteomalacia: mean 43, range 27-61 pmol/L, n = 9. A minimum sample volume of 300 microL is required, the hands-on time is significantly less than other commercial assays and the measuring procedure is gamma counting rather than scintillation counting. The assay offers several advantages over previous methods and should allow more laboratories to offer measurement of 1,25(OH)2D as part of their repertoire.
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PMID:Measurement of plasma 1,25 dihydroxyvitamin D using a novel immunoextraction technique and immunoassay with iodine labelled vitamin D tracer. 936

Biochemical markers of bone turnover are expected to have some different characteristics among bone metabolic disorders. We compared bone formation markers: serum total alkaline phosphatase (s-Alp), serum osteocalcin (s-OC) and serum carboxy-terminal propeptide of type I collagen (s-PICP); and bone resorption markers: serum carboxy-terminal telopeptide of type I collagen (s-ICTP), urinary pyridinoline (u-Pyr) and urinary deoxypyridinoline (u-Dpyr) to examine which marker is the most suitable and reliable to evaluate bone turnover in patients with osteoporosis (n = 29), osteomalacia (n = 10), primary hyperparathyroidism (n = 6) and renal osteodystrophy (n = 21). The value of s-Alp in the osteomalacia group was significantly higher than those in the normal control group and the osteoporosis group (p < 0.001), and T-score of s-Alp was significantly higher than those of s-OC and s-PICP in the osteomalacia group. The values of u-Pyr and u-Dpyr in the primary hyperparathyroidism group were significantly higher than those in the other groups (p < 0.001). S-PICP, which are not dependent upon renal function, was much higher in the renal osteodystrophy group than in all other groups. In the osteoporosis group, T-score of s-ICTP was significantly higher than those of s-OC. Thus, s-Alp was a good marker in osteomalacia, u-Pyr and u-Dpyr in primary hyperparathyroidism, s-PICP in renal osteodystrophy, and s-ICTP in osteoporosis.
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PMID:Characteristics of biochemical markers in patients with metabolic bone disorders. 955 54

Renal failure is relatively common, but except in association with spina bifida or paraplegia it is unlikely to occur as a result of disease of the CNS. Renal failure, however, commonly affects the nervous system. The effects of kidney failure on the nervous system are more pronounced when failure is acute. In addition to the important problems related to renal failure there are both acquired and genetically determined diseases which may affect the kidney and the brain. Those acquired diseases include the vasculitides, the paraproteinaemias, and various granulomatous conditions (considered in other chapters of Neurology and Medicine). In two of the most commonly encountered genetically determined diseases, Von Hippel-Lindau disease and polycystic kidney disease, location of pathogenic mutations will provide improved screening programmes and, possibly, allow therapeutic intervention. Uraemia may affect both the central and peripheral nervous systems. Whereas the clinical features of uraemia are well documented, the pathophysiology is less well understood and probably multifactorial. Uraemic encephalopathy, which classically fluctuates, is associated with problems in cognition and memory and may progress to delirium, convulsions, and coma. The encephalopathy may initially worsen with periods of dialysis and almost certainly relates to altered metabolic states in association with ionic changes and possibly impaired synaptic function. Renal failure may affect the peripheral nervous system, resulting in a neuropathy which shows a predilection for large diameter axons. This may be reversed by dialysis and transplantation. The myopathy seen in renal failure, often associated with bone pain and tenderness, is similar to that encountered in primary hyperparathyroidism and osteomalacia. Dialysis itself is associated with neurological syndromes including the dysequilibrium syndrome, subdural haematoma, and Wernicke's encephalopathy. Dialysis dementia, which was prevalent during the 1970s, has reduced in frequency with the use of aluminium free dialysate. With the introduction of transplantation and the concomitant use of powerful immunosuppressive drugs, the pattern of neurological problems encountered in renal replacement therapy has shifted. Five per cent of patients develop nerve injuries during renal transplantation, and up to 40% of patients experience neurological side effects from cyclosporine. Furthermore, CNS infections, often fungal in type, have been reported in up to 45% of transplant patients coming to postmortem. The nature of the involvement of neurologists with their nephrology colleagues is therefore evolving.
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PMID:Neurology and the kidney. 985 55

A 49 year-old Japanese woman had subjected enlargement of a cervical tumor, and also suffered two bone fractures in 2 years. The cervical tumor had enlarged further in the month prior to admission, becoming warm and tender. Endocrinological examination revealed that the serum intact PTH concentration was remarkably high at 400 pg/mL despite the low serum calcium concentration, and that the serum vitamin Ds concentration was decreased. Bone roentgenograms revealed severe osteolytic changes compatible with osteitis fibrosa cystica and a pathologic fracture of the humerus. Under a diagnosis of primary hyperparathyroidism, parathyroidectomy was performed, followed by fixation surgery for the pathologic fracture. Histologically, the cervical tumor was a parathyroid chief-cell adenoma with massive necrosis, and the bone pathology by iliac bone biopsy revealed the existence of osteomalacia. She was treated with calcium, vitamins D and K2 and calcitonin after the surgery. This case is a rare condition manifesting hypocalcemia with catastrophic osteoporosis under the coexistence of spontaneous infarction of parathyroid adenoma with osteomalacia, suggesting that the clinical features of hyperparathyroidism are modified by both the autoparathyroidiectomy and the existence of osteomalacia due to vitamin D deficiency.
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PMID:Hypocalcemia due to spontaneous infarction of parathyroid adenoma and osteomalacia in a patient with primary hyperparathyroidism. 1039 41

Metabolic bone diseases with disturbed bone remodeling lead to loss of biomechanical quality and atraumatic fractures. Differential diagnosis, prevention and adequate treatment should already start early in the course of these disorders to prevent fractures. Thus, clinical osteology is more than the simplified connection "low bone mineral density--fractures--osteoporosis". This review summarizes physiological relations between bone tissue and calcium homoeostasis as well as the relation between structure and function. In addition, the main metabolic osteopathies "osteoporosis, primary hyperparathyroidism and osteomalacia" are presented from a clinical point of view. The importance and the diagnostic values of biochemical parameters and of the transiliacal biopsy are discussed. In this respect the quantitative measurement of the mineralization density (bone mineral density distribution = BMDD) seems to be of high value and extends the well established bone histomorphometry. This recently introduced method has the power to distinguish between small differences in the degree of mineralization of the matrix with high precision and reproducibility. The results of quantitative backscattered electron imaging in the scanning electron microscope improve the differential diagnosis of bone diseases with alterations in mineralization density, helps to detect mixed etiology (e.g. osteoporosis plus osteomalacia) and facilitate decision making for treatments. The value of biochemical, radiological, osteodensitometric and histopathological tests for diagnosis and treatment depends on the knowledge of the clinical relations and the complex interactions between calcium-, phosphate- and bone metabolism.
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PMID:[Osteoporosis and metabolic bone diseases; clinical relationship]. 1062 83


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