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

Primary hyperparathyroidism (PHP) is particularly interesting at this time because of the modifications of its traditional symptoms, which have renewed the conditions of its diagnosis. This is the result of a better knowledge and consequently an increased frequency of the simple forms, mild or clearly atypical, usually expressing the initial stages of the disease which are now better detected. The relative part of the classical manifestations of the disease is therefore reduced as well. In order to verify this fact, the authors have initiated a retrospective study of 535 recent cases of PHP, over 12 years, comparing them with 322 older cases, examined and operated upon between 1954 and 1976 by P.L. Chigot. Analysis of the differences that were noted, was the subject of a statistical evaluation. The first result of this investigation is that PHP remains a disease affecting predominantly women, especially between the ages of 40 and 60 years, and beyond that age to a lesser degree. In comparing the data obtained from analyzing the circumstances of discovery of the disease and its symptoms, the most striking modification consisted in a real drop in the frequency of bony lesions. These modifications are much more rare, only exceptionally presenting their classical characteristic X-ray appearance and they only represent a factor of contingency in the clinical picture of PHP. This is probably the result of a much earlier discovery of the disease. The incidence of renal insufficiency is also remarkably low, probably for the same reason. In return, asthenia and urinary lithiasis are now the major symptoms of PHP.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[The new clinical picture of primary hyperparathyroidism. Diagnostic circumstances and current symptomatic characteristics. Results of a multicenter study]. 305 16

We report the clinical and biological picture of 34 primary hyperparathyroidism (PHT) cases, diagnosed in rheumatology. It concerned 25 women and 9 men, aged 61 + 11 years. The PHT was often asymptomatic (47 p. cent of cases) at the time of diagnosis. The clinical manifestations were dominated by asthenia (50 p. cent) and renal lithiasis (47 p. cent). We found a chondrocalcinosis in 29 p. cent of patients. No patient presented any bony manifestations of cystic osteitis; 7 out of 34 patients (including 6 women between 57 and 74 years) presented vertebral compression. The mean calcemia was 117 +/- 9 mg/l. There were no hypercalcemic attack. The dosage of PTH and cyclic AMP were elevated in 29 out of 32 and 28 out of 31 patients respectively. In all patients, the level of either of these two tests was increased. The chloremia/phosphoremia ratio was also extremely predictive of HBP, since it was increased, exceeding 3.3 in 33 out of 34 patients. The 25-hydroxyvitamin D levels (25 (OH) D) were normal. The levels of 1,25 (OH) 2D were markedly spread (37 +/- 16 pg/ml) and not significantly different from the reference group. Patients with lithiasis did not present a higher level of 1,25 (OH) 2D. A bone histomorphometry carried out in 15 patients showed a bone trabecular volume similar to that of the reference with the same age. The osteoclastic resorption was increased in all cases and was not correlated with the PTH level, but was significantly correlated with the level of 1,25 (OH) 2D (r = 0.79 p less than 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Primary hyperparathyroidism seen in rheumatology. Clinical symptoms and the relation between bone histologic signs and biological parameters]. 326 11

A 64 year old woman had been on lithium carbonate for 12 years for manico-depressive psychosis. Mild asthenia leads to the diagnosis of primary hyperparathyroidism based on the findings of hypercalcemia up to 2.85 mmol/l inappropriate levels of parathormone and a non-suppressive rise of nephrogenic cyclic AMP. These symptoms were not relieved by removal of a chief cell adenoma of the left inferior parathyroid; surgical reexploration leads to the removal of an adenoma in a high, ectopic situation. Further venous samplings were collected during cervico mediastinal phlebography because of persistent hypercalcemia: parathormone levels were high in a thymic vein and a new cervicotomy revealed a fifth gland with an adenoma in the high mediastinum. After removal of the third adenoma, the patient became hypocalcemic. Lithium was not discontinued according to the patient's wishes. Eighteen months later she was well and normocalcemic on alfacalcidol therapy. Multiple adenomas of the parathyroids are rare (1.7 p. 100 to 5 p. 100) and the recurrence of an adenoma on a supernumerary gland is exceptional. Eighteen clinical cases of primary hyperparathyroidism under lithium therapy have been reported, but mild asymptomatic hypercalcemia with inappropriate increased parathormone levels seems to be more common. Duration of treatment is very variable: 1 day to 12 years, and serum calcium levels or up to 3.9 mmol have been observed. Ten patients underwent cervicotomy with removal of an adenoma 6 of them remaining under treatment, with 2 recurrences in our case. Five of the 8 non-operated patients remained on lithium therapy and showed mild hypercalcemia.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Multiple hypersecreting lesions of the parathyroid glands during treatment with lithium]. 371 17

Primary hyperparathyroidism is a not so infrequent disease that is often overlooked by physicians. Its incidence is estimated to be about 28 in 100.000 subjects, mainly women over seventy years old. Three to four percents of women over seventy are affected. Hyperparathyroidism can be isolated or be a component of a more complex syndrome like multiple endocrine neoplasms (MEN). Patients can be asymptomatic or present with symptoms like asthenia, hypertension or nephrolithiasis. The biological investigation requires the combined measurements of plasmatic ionized calcium and parathormone. In some cases, more specific explorations like calcium loading tests have to be performed in order to confirm the diagnosis.
 ...
PMID:[Primary hyperparathyroidism: etiology, diagnosis and treatment]. 1119 9

Hyperparathyroidism is a disease characterized by hypercalcemia with hypophosphoremia resulting from increased secretion of parathyroid hormone (PTH). The disease may be divided into 3 forms: a) primary, b) secondary, c) tertiary (secondary refractory form). Primary hyperparathyroidism is rare in children; hyperplasia is more frequent during the early years of life (neonates and infants) and is difficult to distinguish from adenoma in children. The disease may be asymptomatic; elevated calcemia levels (>12 <13.5 mg/dl) are accompanied by anorexia, asthenia and persistent stipsis; severely elevated concentrations (>13.5 mg/dl) are accompanied by nausea, vomiting, polyuria due to osmosis, with dehydration and progressive onset of lethargy, stupor and coma. Osteopenia or osteitis fibrosa cystica may be present due to augmented bone resorption. Height and weight increases are altered due to anorexia and dehydration. Differential diagnosis includes iatrogenic causes of hypercalcemia (excessive vitamin D intake, prolonged immobilization, etc.) and idiopathic familial hypercalcemia. Emergency treatment is required in cases of extremely elevated hypercalcemia (Ca >13.5-14 mg/dl), due to risk of injury to the heart, the central nervous system, the gastrointestinal tract and the kidneys. The 4 cardinal points of treatment are: hydration, calciuresis, inhibition of bone calcium resorption, treatment of the cause underlying hyperparathyroidism. Secondary hyperparathyroidism is found in cases where chronic hypocalcemia is present, particularly in chronic renal failure, untreated deficiency rickets, chronic intestinal malabsorption, hepatobiliary disease, types I and II vitamin D-dependent rickets, tubular acidosis or Fanconi's syndrome. The tertiary form is distinguished by the autonomous nature of the parathyroid glands which have become hypertrophic/hyperplastic due to uncontrollable, chronic severe renal failure. It can also be of iatrogenic origin due to excessive intake of inorganic phosphates in familial hypophosphatemic rickets or chronic vitamin D deficiency.
 ...
PMID:Hyperparathyroidism. 1524 24

The clinical presentation of primary hyperparathyroidism (pHPT), previously constantly characterized by bone and renal diseases, has been changing during last years. Several Studies report psychic and behavioural symptoms mostly vague and aspecific, particular in elderly patients, such as asthenia, anxiety, depression, irritability, mood swings, amnestic and cognitive disturbances, severe psychosis. In case history hereby reported 11.8% of the patients affected by pHPT (16 out of 136 cases operated from 1983 to October 2006) who underwent to parathyroidectomy, presented only neuro-cognitive and/or psychiatric symptoms. A relevant association has been found between clinical presentation and age: patients showing neuro-cognitive and psychiatric disturbances were older compared to those suffering from the classical bone and kidney disease. No significant correlation neither with serum calcemia nor with PTH serum levels and severity of the symptomatology was demonstrated A statistically significant reduction of the anxious-depressive disturbances one month post surgery has been found (p < 0.05), and an improvement, though not significant, of the neuro-cognitive and psychiatric alterations was registered (p > 0.1). The Authors believe neuro-cognitive or psychic manifestations is not to be neglected, mainly in geriatric patients: frequently the aspecific symptomatology is not referred as hypercalcemia due to pHPT Neuro-psychic symptomatology should be considered an indication for surgical treatment.
 ...
PMID:[Neurological and psychiatric disorders in primary hyperparathyroidism: the role of parathyroidectomy]. 1895 62

We present our experience with low-dose cinacalcet to normalize serum calcium in patients with primary hyperparathyroidism (PHPT) not eligible for surgery. We analyzed the impact of this drug on various parameters of calcium-phosphorus metabolism and its tolerability profile. We recruited 17 patients diagnosed with PHPT who had hypercalcemia and also met one or more of the following inclusion criteria: elevated risk for parathyroidectomy, persistent/recurrent PHPT after previous parathyroid surgery or refusal to undergo surgery. The starting dose of cinacalcet was 30 or 60 mg/day, which was adjusted depending on the degree of calcemia reduction and tolerance to the drug. We observed a reduction in serum calcium that was already evident in the first post-treatment test. Appropriate dose adjustment was performed when required and normal serum calcium levels were achieved in most patients, remaining stable during follow-up. Parathyroid hormone was reduced but not normalized in most patients. Calciuria decreased while serum phosphate and alkaline phosphatase levels increased. Cinacalcet tolerance was generally good at the doses used. The most common adverse effects were weakness, dizziness and asthenia, leading to treatment withdrawal in only one patient. We conclude that low-dose cinacalcet reduces serum calcium efficiently, normalizes calcium levels in most patients with PHPT not eligible for surgical treatment and has a good tolerability profile.
 ...
PMID:[Low-dose cinacalcet reduces serum calcium in patients with primary hyperparathyroidism not eligible for surgery]. 2127 66

We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.
 ...
PMID:Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1. 2134 Jan 56

Parathyroid carcinoma is a very rare malignant tumor of the parathyroid gland. Clinically, this cancer is characterized by the presence of severe primary hyperparathyroidism. Diagnosis is based on histological examination but is not always easy. Surgery is the treatment of choice. We report the case of a 59-year old woman with a personal history of arterial hypertension and of recurrent renal lithiasis, presenting with diffuse bone pain associated with asthenia. Neck examination showed hard basi-cervical swelling with nonpalpable lower edge. Laboratory tests showed hypercalcaemia 4.1 mmol/l, hyperparathyroidism with very high parathyroid hormone (PTH) value (1088 pg/ml or 13 times normal). Technetium-99m-sestamibi scintigraphy showed fixed MIBI abnormality in the projection of the left inferior parathyroid. The patient underwent left inferior parathyroidectomy, with ipsilateral mediastinal-recurrent nerve dissection. The postoperative course was marked by normalization of plasma calcium and THP. Anatomopathological examination showed parathyroid carcinoma. The diagnosis of parathyroid carcinoma is generally based on the combination of biological, radiological and histological signs. The severity of this pathology is due to severe hypercalcaemia and to the risk of recurrence and distant metastases, justifying prolonged monitoring.
 ...
PMID:[Parathyroid carcinoma: about a case and review of the literature]. 2881 6

Primary hyperparathyroidism (PHPT) is a common endocrine disorder caused by the overactivation of the parathyroid glands due to the autonomous production of the parathyroid hormone (PTH). The resultant hypercalcemia leads to a myriad of symptoms. Here we report the case of a 54-year-old female with a previous diagnosis of Gougerot disease, in whom clinical (diffuse bone pain, asthenia polydipsia, and polyuria) and laboratory features (calcium level, 3.1 mmol/L; phosphate level, 0.55 mmol/L; alkaline phosphatase level, 70 U/L; and intact PTH level, 1028.9 pmol/L) prompted the diagnosis of PHPT caused by a parathyroid adenoma as confirmed by anatomopathology. After treatment with renal replacement therapy, intravenous fluids and zolendronic acid, and subtotal parathyroidectomy, the patient status improved, with normal laboratory tests. However, the fortuitous nature of the association between Gougerot disease and PHPT as well as the physiopathological links between these two diseases remain to be specified.
 ...
PMID:Primary hyperparathyroidism and Gougerot disease. 2965 79


1