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)

Eleven cases with histologically confirmed primary hyperparathyroidism have been studied. Although histologically, bone turnover increased in all but 1 patient, urinary hydroxyproline excretion and serum alkaline phosphatase in patients with renal stones were within the upper normal limits of slightly elevated (27.5 mg/24 h, concentration 19.5 microgram/ml, alkaline phosphatase 35.0 IU/l). On the contrary, 3 cases without renal stones exhibited an increased urinary hydroxyproline excretion (129 mg/24 h, concentration 95.6 microgram/ml) and elevated serum alkaline phosphatase (99.9IU/l). Serum total hydroxyproline was elevated in both groups (renal stones, 2.00 mg%; no renal stones, 3.16 mg%; p = 0.006). Hydroxyproline was determined under conditions of a very low proline diet and 1.5 liters of daily fluid intake. There were no statistically significant differences between serum calcium, phosphorus, and parathormone between urinary excretion of calcium and phosphorus. Creatinine clearance was within normal limits in all patients. The possible relevance of urinary hydroxyproline for stone formation is discussed.
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PMID:Urinary hydroxyproline concentration in primary hyperparathyroidism with and without renal stones. 91 50

We report here our genetic findings of a family in which 14 members were affected with isolated primary hyperparathyroidism. Hyperparathyroidism is the main feature of multiple endocrine neoplasia type 1 (MEN1), making the recently cloned MEN1 gene a prime candidate gene in this family. Significantly positive lod scores were achieved with D11S4946 (3.36) and D11S4940 (3.53), and by combining the results from these two markers, a maximum positive lod score of 4.12 at recombination fraction 0.00 was obtained. Mutation analysis of MEN1 performed by full sequencing identified a missense mutation in exon 4, causing an amino acid change from glutamine to proline at codon 260. This mutation (Q260P) was present in all affected family members, and the inheritance of the mutation was in complete agreement with the disease-associated haplotype. In comparison with the recent functional studies of the menin protein interactions, this mutation is located in a region with little or no binding activity to JunD and activating protein-1 transcription factor. We conclude that some of the familial isolated primary hyperparathyroidism families constitute a milder variant of MEN 1, which is associated with a functionally milder missense mutation.
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PMID:Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. 1063 81

We report a multiple endocrine neoplasia type 1 (MEN1) patient associated with carcinoid syndrome. A 50-year-old woman had parathyroid hyperplasia with primary hyperparathyroidism, a pancreatic tumor and carcinoid tumors in the liver and duodenum. The primary lesion of the carcinoid was probably the bronchus. Direct sequencing analysis revealed a novel missense mutation at codon 342 in exon 7 causing an amino acid change from alanine to proline (A342P) of the MEN1 gene. Loss of heterozygosity (LOH) was also detected in the resected parathyroid tissue. This mutation appeared to play an important role in the tumorigenesis of the endocrine tissues in the present case.
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PMID:A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome. 1468 52

Parathyroid hormone (PTH) is secreted by parathyroid glands and is the main known factor that control plasma calcium concentration. There are many indications that PTH or products of PTH degradation influence the mean arterial blood pressure (MAP). These observations might be important in diseases accompanied with the overproduction of PTH such as primary hyperparathyroidism (PHPT). It was shown that the six amino acids PTH precursor-PRO-PTH with reversed sequence (PRO-rs), which contains a rare tripeptide -Arg-Lys-Lys- fragment, induces significant hypertensive response in rats. This strong alkali tripeptide is also present in the position 25-27 of the PTH molecule. The aim of the present study was to synthesize, by the solid phase peptide synthesis method, PTH fragments including the -Arg-Lys-Lys- sequence and test their influence on blood pressure and calcium plasma concentration in rats. Our study demonstrated that PTH(25-34) and the acetylated amide analogue of PTH(25-30), (Ac-PTH(25-30)-NH(2)) were hypertensive in the physiological doses. The presence of strong alkali sequence -Arg-Lys-Lys- in PTH(25-30) fragment is not sufficient to induce hypertension either in physiological or pharmacological doses in rats. Therefore, both the proximity of the -Arg-Lys-Lys- sequence and length of the peptide might also play roles as pressure factors.
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PMID:Hypertensive activity of synthesized PTH(25-34) and Ac-PTH(25-30)-NH2 in rats. 1901 89