Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020437 (hypercalcemia)
10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary hyperparathyroidism is the third most frequent endocrine disorder. The condition required for diagnosis is inappropriately elevated secretion of parathyroid hormone (PTH) with respect to calcemia. Most often, the disease is due to a parathyroid adenoma, i.e. a monoclonal benign parathyroid tumor, less often to a parathyroid hyperplasia. The main tumorogenic mechanisms currently proposed are a DNA rearrangement in the PTH locus (transposition of the PTH promoter upstream to Cyclin D1/PRAD 1 gene) and a mutation of the gene responsible for multiple endocrine neoplasia type I. The clinical presentation has strikingly evolved towards a milder, asymptomatic form, frequently diagnosed on systematic screenings. Though the mechanism of hypercalcemia is better understood, several hypothesis are still being considered about the regulation of tumoral PTH secretion: the role of the expression of calcium-receptor in parathyroid gland cells, vitamin D receptor and estrogen receptor polymorphisms, etc. Surgery is still advised for symptomatic forms of the disease, either because of a bone involvement, or because of an evolutive nephrolithiasis. In the near future, the new calcium-receptor agonists could be a relevant therapeutic approach.
...
PMID:[Primary hyperparathyroidism]. 1111 7

In this study, the biochemical and clinical profile of primary hyperparathyroidism, diagnosed in 155 patients (106 females and 49 males) in the Department of Nephrology of the Silesian University School of Medicine in the years 1972-1998 was analyzed. The mean age of patients was 48.5 +/- 12.8 years. In all cases the diagnosis was confirmed by the pathomorphological examination. In the majority of cases PNP was diagnosed in a phase of advanced organic injuries. The leading clinical finding in these patients was nephrolithiasis. Asymptomatic hypercalcemia was diagnosed only in 9% of cases. In the years 1972-1992 elevated serum total calcium concentration was found in 92.6% while after introduction of routine estimation of ionized calcium concentration in 1993, hypercalcemia was found in all patients. The incidence of hypercalciuria increased significantly in patients diagnosed in the period 1993-1998 while in this same period the incidence of impaired renal function declined significantly. The elevated serum PTH was found in 86% of patients regardless whether C-terminal fragments of PTH or intact PTH-1-84 were assessed. Elevated levels of ionized serum calcium with normal or increased plasma iPTH-1-84 level are the most constant symptoms of primary hyperparathyroidism.
...
PMID:[Clinical and biochemical picture of primary hyperparathyroidism based on 155 observed cases]. 1123 60

The files were studied of 300 patients operated for primary hyperparathyroidism for the first time. Their median age was 60 years. The female/male ratio was 3/1, but in the younger patients males and females were about equally present. Preoperatively, one third was considered as asymptomatic with respect to hyperparathyroidism. In this subgroup the hypercalcemia was detected coincidentally and the mean parathyroid hormone level was lower than in the others. Another third of the patients had nephrolithiasis, they were on the average younger and there were more males. Finally one third showed other symptoms as gastrointestinal disease, bone disease or general malaise. Intraoperatively, we found a solitary adenoma in 90% of the cases, a double adenoma in 5% (on each side of the neck in half of the cases) and hyperplasia in 4%. The adenomas had a tendency to occur more often in the upper parathyroid glands, but the difference was not important enough to influence the surgical technique. Hyperplasia patients were, on the average, younger and double adenoma patients older. The female/male ratio was 1/1 for hyperplasia and 15/1 for double adenoma.
...
PMID:Pre- and intra-operative findings in primary hyperparathyroidism. 1144 71

Hypercalcemia is frequently encountered in healthy outpatients. Reliable measurements of the mediators of hypercalcemia have improved diagnostic certainty about the etiology in most patients. Hyperparathyroidism is overwhelmingly the most common cause. Medical evaluation of the patient with hyperparathyroidism requires an understanding of the complications of the disorder and the associated syndromes. At present decreased bone mineral density and nephrolithiasis are the major sequelae of hyperparathyroidism. Most cases of primary hyperparathyroidism are sporadic; however, hereditary forms can occur in patients with the multiple endocrine neoplasia syndromes. Surgery is the only curative therapy. Results are excellent when an experienced endocrine surgeon performs parathyroid surgery.
...
PMID:Medical and surgical management of hyperparathyroidism. 1179 62

Derangement of calcium metabolism, although perhaps not as dramatic as that of the cardiovascular or vestibular systems, constitutes one of the major threats to the health of participants in exploration of space. On the basis of studies in immobilized subjects, the clinical disorders most likely to be encountered during prolonged space flight are primarily the consequence of an imbalance between bone formation and resorption (favoring the latter): (1) loss of skeletal mass, leading to osteoporosis; (ii) hypercalcemia; and (iii) hyper-calciuria, with the attendant risk of nephrolithiasis. By itself, loss of skeletal mass would not be expected to pose an in-flight hazard, but hypercalcemia or nephrolithiasis could jeopardize lives or mission success. Such data as are available from in-flight studies tend to support the use of immobilization as a terrestrial model for alterations in calcium metabolism during space flight. A variety of prophylactic measures have been attempted with this model in an effort to modify the observed disorders. Although there is some evidence that hypercalcemia and hypercalciuria can be reduced or prevented, negative calcium balance has not been completely reversed. Perhaps the most successful prophylactic measure utilized to date has been dietary supplementation of both calcium and inorganic phosphate. With the wide variety of excellent study tools which are currently available for application to this field, significantly increased efforts are clearly required both to define the basic mechanism of immobilization-induced skeletal losses and to devise new prophylactic or therapeutic approaches.
...
PMID:Calcium metabolism under stress and in repose. 1252 77

Parathyroid carcinoma accounts for 0.5 to 4.0% of cases of primary hyperparathyroidism. The prognosis depends largely on the extent of successful resection at the time of initial operation. Therefore, early diagnosis before surgery is important. We report 3 cases of primary hyperparathyroidism. The first patient, a 20-year-old uremic female, had refractory hypercalcemia after 5 years of hemodialysis treatment. Hypercalcemia persisted despite repeated parathyroidectomy. Pathology revealed diffuse hyperplasia of the parathyroid glands with focal adenomatous changes. Multiple pulmonary metastases were found later. The second patient, a 45-year-old female with history of nephrolithiasis, presented with severe osteoporosis. She underwent repeated parathyroidectomy for local recurrence. Pathology disclosed typical features of parathyroid carcinoma with adjacent lymph node metastasis. The third patient, a 34-year-old male, had recurrent episodes of extremity fracture and hypercalcemia with palpable neck mass. He underwent resection of the parathyroid tumor. Vascular and capsular invasions were noted microscopically. All three patients were relatively young and had extremely high intact parathyroid hormone (iPTH) level (15 to 31 times the upper limit of normal). The first patient died of hypercalcemia and respiratory failure and the other 2 were treated successfully with surgical excision and, in case 2, combined chemotherapy and radiotherapy. The latter 2 patients had no recurrence during 18 months and 14 months of follow-up, respectively. Our experience with these cases suggests that the combination of the following characteristics are highly suggestive of parathyroid carcinoma: young age, palpable neck mass, concomitant renal and skeletal disease, and extremely high iPTH level in patients with PTH-dependent hypercalcemia.
...
PMID:Variability of clinical presentations in three cases of parathyroid carcinoma. 1283 92

The clinical picture of hyperparathyroidism has gone toward deep modifications in the last few decades, and currently this disease is more frequently asymptomatic. So, the question is raising concerning which patients have to be operated, due to the substantial benignity of the disease and the lack of well defined symptoms. Classical indications for surgery have been formulated more than a decade ago and are as follows: calcemia higher than 3 mmol/L, previous episode of life threatening hypercalcaemia, reduced creatinine clearance, nephrolithiasis, hypercalciuria, osteoporosis. In the last years other indications have been added, on the basis of clinical and epidemiological studies that have contributed to broaden our knowledgement on the evolution and compliances of the disease. Among these, the following data have to been kept in mind: history of previous atraumatic fractures, vertebral osteopenia (Z-score < -2), vitamin D deficiency, perimenopausal status, neuromuscular or psychical disturbances.
...
PMID:[Current indications for surgical treatment of asymptomatic primary hyperparathyroidism]. 1497 Dec 78

A novel heterozygous PTH/PTHrP receptor missense mutation (T410R) was identified in a male and his two sons who are all affected by a less severe form of Jansen's metaphyseal chondrodysplasia (JMC). JMC is a rare disorder that is typically characterized by severe growth plate abnormalities that lead to short-limbed dwarfism. Furthermore, affected individuals usually show significant hypercalcemia, despite normal or undetectable levels of PTH and PTHrP. In contrast, the three affected members of this new family showed only mild skeletal dysplasia, comparatively normal stature, and blood calcium concentrations either within or at the upper end of the normal range. However, PTH levels were suppressed, and urinary calcium excretion was elevated, which led to nephrolithiasis in both children. When expressed in COS-7 cells, the PTH/PTHrP receptor with the T410R mutation led to agonist-independent cAMP formation, which was less pronounced than that observed with the previously identified T410P mutant. Our findings indicate that a mild form of JMC has been identified that is characterized by less pronounced skeletal and laboratory abnormalities.
...
PMID:A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. 1524 Jun 51

Sarcoidosis is a systemic granulomatous disease of unknown etiology and is associated with a wide variety of renal disorders including nephrolithiasis, hypercalciuria, hypercalcemia, nephrocalcinosis, tubular defect, glomerulonephritis, and granulomatous interstitial nephritis. We report a case of renal sarcoidosis in which we could not detect any evidence of extrarenal involvements that was diagnosed by renal biopsy and abnormal calcium metabolism incompatible with chronic renal insufficiency. On laboratory findings, decreased creatinine clearance, proteinuria, hypercalcemia, hypercalciuria, and mildly elevated serum angiotensin-converting enzyme (ACE) were seen. Serum intact parathyroid hormone (PTH) and 1,25-dihydroxyvitamin D (1,alpha-25 vit D) were lower and higher than normal range, respectively, whereas the patient was already in chronic renal insufficiency. He was treated with oral corticosteroid. Serum ACE tended to fall, and 1,alpha-25 vit D level decreased with substantial fall of serum calcium and daily calcium excretion. In contrast, intact PTH increased slowly in accordance with a fall of serum calcium compatible with the level of renal impairment. Creatinine clearance and daily excretion of protein improved. The case reported here may propose that serial measurement of serum level of 1,alpha-25 vit D, calcium level, and magnitude of daily calcium excretion into urine is a simple and meaningful tool to detect the therapeutic response in sarcoidosis with abnormal calcium metabolism.
...
PMID:A case of renal sarcoidosis: a special reference to calcium metabolism as a diagnostic and the therapeutic implications. 1561 40

The aim of our study was to compare the results of biochemical and imaging investigations with histopathological diagnosis in operated patients with primary hyperparathyroidism. 46 subjects were included into the study, pathologically demonstrated as parathyroid adenoma--23 subjects, parathyroid hypertrophy--16, parathyroid carcinoma--2 and in 5 patients parathyroid gland was not found in resected tissue. The most frequent complications of primary hyperparathyroidism in our group were osteoporosis (87%) and nephrolithiasis (64.1%). 99mTc-MIBI imaging described as a parathyroid adenoma or parathyroid hypertrophy were confirmed pathologically in 52 and 57.1%, respectively. Three typical symptoms of primary hyperparathyroidism assessed in our study (hypercalcemia, hypercalciuria and increased concentration of parathormone) were observed only in about 50% patients with histopathological diagnosis of adenoma and hypertrophy. The lowest average calcium serum level (2.87 mmol/l), urinary calcium level (7.8 mmol/24h) and parathyroid hormone concentration (209.4 pg/ml) were observed in patients with parathyroid adenoma, the highest levels of these parameters were noticed in patients with parathyroid carcinoma (3.41 mmol/l; 14.6 mmol/24h; 687.8 pg/ml, respectively), patients with parathyroid adenoma were characterized by intermediate values (2.98 mmol/l; 9.7 mmol/24h; 285.5 pg/ml, respectively). After parathyroidectomy lowering in average calcium serum level (2.94 vs. 2.16 mmol/l), parathyroid hormone concentration (244.45 vs. 54.15 pg/ml) and increasing in average phosphate serum level (0.81 vs. 1.04 mmol/24h) were observed in our group. Finally, using different biochemical and imaging investigations is necessary for proper recognition of primary hyperparathyroidism due to occurring of oligosymptomatic cases.
...
PMID:[Diagnostic problems with recognition of primary hyperparathyroidism]. 1646 2


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>