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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present case report of primary hyperparathyroidism treated surgically as well as a review of literature concerning this subject. The disease of not well known etiology presents with elevated parathormon levels and hypercalcemia. Primary hyperparathyroidism which states 85% percent of all kinds of hyperparathyroidism is usually parathyroid adenoma, in 11-15% glandular hyperplasia and in 1-4% parathyroid cancer. Clinical symptoms are muscle weakness and fatigue, nephrolithiasis, occasionally peptic ulcers, pancreatitis, hypertension. Laboratory test reveal increased level of PTH, hypercalcemia, elevated alkaline phosphatase levels and decreased phosphorus levels. Diagnostic imaging techniques such as ultrasonography, MRI or CT have sensitivity about 52-75%. Highest sensitivity in localization of ectopic parathyroid adenoma has sestamibi scintigraphy with technetium-99. Skeleton x-rays show typical changes in distal parts of bones and osteopenia. Treatment of choice is surgical excision of adenoma. Normalization of PTH and calcium levels after surgery and improvement of renal, musculoskeletal and circulatory system function could be achieved in 95%. Most common complications are recurrent laryngeal nerve injury, hypo- or hyperparathyroidism, bleeding or stridor.
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PMID:[Primary hyperparathyroidism--case report and review of the literature]. 1682 51

We report the case of a 32-year-old male with hypercalcemia and recurrent nephrolithiasis as a symptom of primary hyperparathyroidism, hypoglycemia due to insulinoma, microprolactinoma, and a large, partially calcified tumor of the upper right leg. The patient underwent several surgical interventions including subtotal parathyreoidectomy, partial pancreatectomy, and percutaneous nephrolithotrypsy. Regular treatment with bromocriptine was required for normalization of serum prolactin concentration. His only sibling, a 26-year-old sister, suffered from microprolactinoma and had been treated with bromocriptine for 6 years. Their father had suffered from recurrent kidney stones and peptic ulcer and died at the age of 34. A novel 1113delC mutation within exon 7 of the menin gene was found in both siblings. This mutation results in a frame-shift with missense translation of the subsequent residual acids and preterm termination of the peptide at codon 357.
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PMID:Novel 1113delC menin gene mutation in a Polish family with multiple endocrine neoplasia type 1 syndrome. 1696 58

The calcium-sensing receptor has a key role in calcium homeostasis, it is involved in the regulation of the serum calcium level within minutes via the secretion and action of parathyroid and the excretion of calcium in the kidney in a negative feedback manner. Mutations of the calcium sensing receptor gene leads to inactivating and activating mutations resulting in diseases with hypercalcaemia and hypocalcaemia. The loss of function mutations are associated with familial benign hypocalciuric hypercalcaemia (FHH), an autosomal dominant disease characterised by lifelong mild hypercalcaemia, low urinary calcium excretion, and inappropriate high parathyroid hormone levels, sometimes difficult to distinguish from mild asymptomatic primary hyperparathyroidism. Patients with FHH did not profit from parathyroidectomy, a calcium lowering therapy is not necessary. The gain of function mutations of the calcium-sensing receptor are associated with autosomal dominant hypocalcaemia (ADH), a disease characterised by a generally asymptomatic hypocalcaemia, inappropriately high urinary calcium excretion and normal PTH levels. A therapy to raise the serum calcium concentration has to be done carefully and is only indicated in symptomatic patients, because of enhancement of hypercalciuria with the risk of nephrocalcinosis and nephrolithiasis. Molecular genetic analysis of the calcium sensing receptor gene facilitates the sometimes difficult diagnosis. The development of compounds modulating the calcium sensing receptor function and thereby the section of PTH may become an important role in treatment of diseases of calcium metabolism.
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PMID:The role of the extracellular calcium-sensing receptor in health and disease. 1703 19

Surgery of primary hyperparathyroidism. Primary hyperparathyroidism is usually caused by a single parathyroid adenoma, rarely by multiple adenomas or hyperplasia and in 1-2% of cases by carcinoma. The definitive cure of the disease can be achieved only by surgical means. Unfortunately, only 10% of expected cases based on the number of population are diagnosed in Hungary. The main reason is that the disease has no specific symptoms and it causes only a few cases present with clinical entities such as nephrolithiasis, osteoporosis-osteopenia, pancreatitis, hypertension, peptic ulcer disease, depression, etc. The clue to the diagnosis of primary hyperparathyroidism is usually the laboratory result of hypercalcemia and in order to this aim the measurement of serum Ca would be an obligatory part of routine laboratory investigation in Hungary. The diagnosis of primary hyperparathyroidism rests on the laboratory confirmation of increased serum calcium and inappropriately elevated intact parathyroid hormone concentrations. If surgical intervention is planned, cervical ultrasonography and parathyroid-scintigraphy are indicated for the exact localization of hyperfunctioning parathyroid gland(s). CT and/or MRI are usually not necessary, except in cases of previous neck operation. The operation must be performed by surgeon skilled in parathyroid surgery. The surgical success can be assessed intraoperatively by the use of a gamma probe or by intraoperative measurement of parathyroid hormone concentrations in the serum or in the removed tissue(s). Support of these procedures is recommended. Although many recent publications deal with the minimal invasive methods of parathyroidectomy, the cost-effectiveness of these newer techniques are controversial.
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PMID:[Surgery of primary hyperparathyroidism]. 1722 13

Primary hyperparathyroidism (PHPT) is classically thought of as the somatic manifestation of hypercalcemia in which patients suffer from a variety of complaints including abdominal pain, nephrolithiasis, osteopenia, and mental status changes. Contemporary PHPT patients are generally free of somatic manifestations and are most often diagnosed when routine biochemical testing shows an elevated serum calcium level. The modern day patient may present with much more subtle neurocognitive symptoms including fatigue, lethargy, muscle weakness, depression, and cognitive impairment. Advances in imaging technology, intraoperative parathyroid hormone measurement, and surgical technique now allow parathyroidectomy to be performed using a focused approach without the absolute need of a four-gland exploration. Minimally invasive techniques allow the procedure to be accomplished under local anesthesia on an outpatient basis. This brief review summarizes the presentation, biochemical evaluation, operative intervention, and follow-up care of the modern day PHPT patient.
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PMID:Primary hyperparathyroidism. 1760 56

Hypercalcemia is a highly prevalent complication of sarcoidosis. A medical history of a patient with sarcoidosis is shown as case report. Depending on the population studied about 2-63% of sarcoidosis patients show hypercalcemia. The major difference in the prevalence of hypercalcemia may be in part due to the undulating course of subacute sarcoidosis, so hypercalcemia may be missed when serum calcium is not frequently measured. Hypercalciuria appears to be twice as prevalent then hypercalcemia and should be looked for in every sarcoidosis patient. Hypercalcemia in sarcoidosis is due to the uncontrolled synthesis of 1,25-dihydroxyvitamin D3 by macrophages. 1,25-dihydroxyvitamin D3 leads to an increased absorption of calcium in the intestine and to an increased resorption of calcium in the bone. Immunoregulatory properties have been ascribed to 1,25-dihydroxyvitamin D3. It is an important inhibitor of interleukin-2 and of interferon-gamma-synthesis, two cytokines that are important in granuloma formation in sarcoidosis. It is thought that 1,25-dihydroxyvitamin D3 counterregulates uncontrolled granuloma formation. Treatment of hypercalcemia depends on the serum level of hypercalcemia and its persistence. Generally sarcoidotic patients should be advised to avoid sun exposition to reduce vitamin D3 synthesis in the skin, to omit fish oils that are rich of vitamin D and to produce more than two liters urine a day by adapting fluid intake. Although severe hypercalcemia seems to be rare, glucocorticosteroid treatment should be started if corrected total calcium level rises beyond 3 mmol/l. If hypercalcemia is symptomatic, treatment should be started even at lower levels. Glucocorticosteroids act by inhibition of the overly 1alpha-hydroxylase activity of macrophages. Alternatively, treatment with chloroquine or ketoconazole can be established. If isolated hypercalciuria without hypercalcemia is present with evidence for recurrent nephrolithiasis, patients can be treated with a thiazide diuretic.
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PMID:[Hypercalcemia in sarcoidosis--case report, prevalence, pathophysiology and therapeutic options]. 1768 88

The aim of the study was to establish the frequency of tubular dysfunction in 59 patients with nephrolithiasis, of whom 52 had unilateral and 7 bilateral calculosis. Before the study urinary infection was cured in all patients. Renal function was normal in all subjects. Hypercalcaemia was present in 8 patients, and hypercalciuria in 17 subjects. Phosphate clearance (CPO4) was increased in 40 patients, and had the same number of patients, decreased tubular reabsorbtion of phosphate (TRP). In 31 patients increased CPO4 and decreased percent of TRP was present. Renal threshold phosphate concentration was decreased in 17 patients. High fraction excretion of sodium was observed in 37 patients, while urine sodium level was higher than normal only in 4 patients. Decreased ability of renal acidification of urine was found in 5 patients, and decreased renal concentration ability in 10 subjects. The most common finding in the observed patients was the phosphate excretion defect usually accompanied with defect of calcium excretion, and defect of urine acidification.
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PMID:[Renal tubular function in patients with nephrolithiasis]. 1797 30

Idiopathic infantile hypercalcemia is recognized as a rare cause of infantile hypercalcemia. Its renal consequences include nephrocalcinosis with distal tubular dysfunction, nephrolithiasis, and finally renal failure. Herein we report the case of a two-month-old infant presenting with idiopathic infantile hypercalcemia complicated with distal renal tubular acidosis (RTA) and nephrocalcinosis. Despite correction of acidosis and dehydration, the persistant hypercalcemia could only be ameliorated with calcitonin treatment. Early diagnosis and appropriate treatment is life-saving in such cases.
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PMID:Idiopathic infantile hypercalcemia and renal involvement. 1797 58

We report an association of proximal renal tubular dysfunction in a 50-day-old girl with glucose-galactose malabsorption who was found to have nephrocalcinosis, but no sign of nephrolithiasis. A novel homozygous nonsense mutation at 267Arg-->stop (CGA-->TGA) in the Na(+)-dependent glucose transporter (SGLT1) was found in loop 5 connecting transmembrane segments 6 and 7, indicating the complete loss of glucose transport activity. This case indicates that hypercalcaemia, nephrocalcinosis and proximal tubular dysfunction may be seen in association with glucose-galactose malabsorption and that most of these abnormalities improve with a glucose-galactose-free diet.
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PMID:Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. 1828 87

Vitamin D insufficiency (VDI) is widely reported. In patients with normal PTH, the diagnosis rests on increases in fractional calcium absorption (FCA) when 25(OH)D increases above 30 ng/ml. However, estimates of increased FCA after correction of VDI vary dramatically, depending on study methods. We used a dual stable calcium isotope to clarify the impact of vitamin D repletion on FCA in postmenopausal women with VDI. We hypothesized that FCA would increase with vitamin D repletion. We studied postmenopausal women with VDI [25(OH)D = 16-24 ng/ml] and an estimated calcium intake <or=1100 mg daily. Exclusion criteria included hypercalcemia, hypercalciuria, renal insufficiency, nephrolithiasis, gastrointestinal disorders, osteomalacia, prior adult fragility fracture, baseline T-score < -3.0, and use of medications known to interfere with vitamin D or calcium metabolism. Each woman underwent inpatient FCA studies before and after correction of VDI. We used ergocalciferol 50,000 IU/d for 15 days to achieve vitamin D repletion. During each study, women consumed their typical diet. They ingested (44)Ca orally with breakfast and received (42)Ca intravenously. We collected urine for 24 h and measured its calcium isotope content by mass spectrometry. Eighteen women completed the study; all but two had normal PTH. During the first and second FCA studies, their mean 25(OH)D level was 22 +/- 4 and 64 +/- 21 ng/ml, respectively (p < 0.001). Subjects' average FCA was 24 +/- 7% initially and 27 +/- 6% after vitamin D repletion (p = 0.04). Thus, FCA increased by 3 +/- 1% with correction of VDI. Postmenopausal women with VDI experience small FCA increments with vitamin D therapy. In existing literature, this small change in FCA does not associate with lower fracture rates or consistently higher bone mass. Future studies should ascertain whether small FCA increments favorably affect the skeleton.
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PMID:Vitamin D insufficiency: disease or no disease? 1904 42


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