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)

The urinary excretion of calcium and phosphate during the day and night was studied in 20 patients with primary hyperparathyroidism and in the same number of controls with normal function of the parathyroids. A significant difference in TRP between day and night was found in the controls but not in the HPT group. In other respects there were no substantial differences between day and night. The higher excretion of calcium observed in the HPT group was largely attributable to the patients with remal calculi. The simplified sampling procedure when only night urine is analysed has no disadvantages-it is more likely to improve the diagnostic reliability as it reduces the influence of meals, for example.
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PMID:Diurnal variations in the urinary excretion of calcium and phosphate in hyperparathyroidism. 98

Eight cases of primary hyperparathyroidism (P-HPT) confirmed pathohistologically, between April, 1974 and January, 1986 at our department, were reviewed. The patients consisted of three males and five females, ranging in age from 38 to 62 years old with an average of 50.3 years. All the cases belonged to the urolithiasis type and seven patients were recurrent or/and multiple stone-formers. Positive rates of the laboratory values studied in relation with P-HPT were 100% in serum Ca, C terminal parathyroid hormone, and % TRP, 87.5% in urine Ca, 75% in serum Cl/P ratio, alkaliphosphatase, 50% in serum Cl, 37.5% in serum P and 0% in urine P. Seven cases had clinically apparent hypercalcemia, while one was a so-called borderline P-HPT with intermittent hypercalcemia. The correct diagnosis of the localization was obtained preoperatively in two cases by angiography and one by C.T and Tl-Tc subtraction scintigraphy. Histological findings of the tumors extirpated by the cervical operation were parathyroid adenomas in six cases and hyperplasia in two. During the course of the postoperative follow up, hypercalcemia and urolithiasis did not recur in any case including two of hyperplasia.
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PMID:[A clinical study of primary hyperparathyroidism]. 378 32

Bone mineral content (BMC) was measured with the Norland Cameron apparatus in 120 renal stone formers (RSF) with idiopathic stone disease and in 41 patients with primary hyperparathyroidism. RSF were classified, according to an oral calcium load test, into three groups: no hypercalciuria (HC; 41 cases); absorptive HC (53 cases), and resorptive or renal HC (25 cases). BMC values in RSF as a group were significantly lower than normal (p less than 0.001, Mann-Whitney test) though higher than in hyperparathyroid patients. There was a trend for BMC to decrease from male RSF without HC to patients with renal or resorptive HC. No statistical difference was found between the groups, however, BMC values in absorptive HC were different from normal (p less than 0.001). Why patients with HC are demineralized is unclear since no correlation was found between BMC and basal values of serum phosphate, TRP, calculated TmP/GFR, urinary calcium or hydroxyproline. Nevertheless our results indicate that urolithiasis, and possibly its treatment, is not a benign condition for the skeleton.
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PMID:Bone mineral content in idiopathic renal stone disease and in primary hyperparathyroidism. 682 40

Hyperparathyroidism is characterized by the oversecretion of parathyroid hormone biochemically and increased cell proliferation histologically. Primary and secondary hyperparathyroidism exhibit distinct pathophysiology but share certain common microscopic features. The present study performed the first genome-wide expression analysis directly comparing the expression profile of primary and secondary hyperparathyroidism. Microarray gene expression analyses were performed in parathyroid tissues from 2 primary hyperparathyroidism patients and 3 secondary hyperparathyroidism patients. Unsupervised hierarchical clustering analysis identified two natural subgroups containing different types of hyperparathyroidism. Combined with additional data extracted from a publicly available database, a meta-signature was constructed to represent an intersection of two sets of differential expression profile. Multiple pathways were identified that are aberrantly regulated in hyperparathyroidism. In primary hyperparathyroidism, dysregulated pathways included cell adhesion molecules, peroxisome proliferator-activated receptor signaling pathway, and neuroactive ligand-receptor interaction. Pathways implicated in secondary hyperparathyroidism included tryptophan metabolism, tight junctions, renin-angiotensin system, steroid hormone biosynthesis, and O-glycan biosynthesis. The present study demonstrates that different pathophysiology is associated with differential gene profiling in hyperparathyroidism. Several pathways are involved in parathyroid dysregulation and may be future targets for therapeutic intervention.
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PMID:Molecular pathways associated with transcriptional alterations in hyperparathyroidism. 2734 90

Primary hyperparathyroidism is a relatively common endocrine disorder, which may be hereditary. This report describes clinical, biochemical, radiographic, and genetic findings, the latter obtained using next generation sequencing (NGS), in three consanguineous patients. Gene panels in NGS consisted of 5 or 70 genes, including MEN1 and RET. The first patient suffered from recurrent primary hyperparathyroidism. Primary hyperparathyroidism and pituitary microadenomas were afterwards diagnosed in two of her daughters. No clinical nor radiological features of gastroenteropancreatic neuroendocrine tumors were found. All three family members were heterozygous for MEN1 NM_130799: c.1267T>A transversion, which is predicted to result in substitution of tryptophan with arginine in position 423. Additionally, the first patient was also a carrier of RET NM_020975: c.1946C>T missense mutation, which was not present in two other family members. We describe a family with a novel heterozygous mutation (NM_130799: c.1267T>A) in MEN1 gene and postulate that it leads to MEN1 syndrome. The study underlies the importance of genetic testing in primary hyperparathyroidism in personalizing patients' care.
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PMID:A Novel Germline c.1267T>A MEN1 Mutation in MEN1 Family-from Phenotype to Gene and Back. 3323 95