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)

In primary hyperparathyroidism (PHPT), excess PTH secretion by adenomatous or hyperplastic parathyroid glands leads to elevated serum [Ca(2+)]. Patients present complex symptoms of muscular fatigue, various neuropsychiatric, neuromuscular, and cardiovascular manifestations, and, in advanced disease, kidney stones and metabolic bone disease. Our objective was to characterize changes in muscle and hematopoietic gene expression in patients with reversible mild PHPT after parathyroidectomy and possibly link molecular pathology to symptoms. Global mRNA profiling using Affymetrix gene chips was carried out in biopsies obtained before and 1 yr after parathyroidectomy in seven patients discovered by routine blood [Ca(2+)] screening. The tissue distribution of PTH receptor (PTHR1 and PTHR2) mRNAs were quantitated using real-time RT-PCR in unrelated persons to define PTH target tissues. Of about 10,000 expressed genes, 175 muscle, 169 hematological, and 99 bone-associated mRNAs were affected. Notably, the major part of muscle-related mRNAs was increased whereas hematological mRNAs were predominantly decreased during disease. Functional and molecular network analysis demonstrated major alterations of several tissue characteristic groups of mRNAs as well as those belonging to common cell signaling and major metabolic pathways. PTHR1 and PTHR2 mRNAs were more abundantly expressed in muscle and brain than in hematopoietic cells. We suggest that sustained stimulation of PTH receptors present in brain, muscle, and hematopoietic cells have to be considered as one independent, important cause of molecular disease in PHPT leading to profound alterations in gene expression that may help explain symptoms like muscle fatigue, cardiovascular pathology, and precipitation of psychiatric illness.
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PMID:Abnormal muscle and hematopoietic gene expression may be important for clinical morbidity in primary hyperparathyroidism. 1722 61

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

A 75-year-old woman was admitted to our hospital because of general fatigue. She had suffered from sarcoidosis during her 40s with remission, but subsequently she experienced progression of hypercalcemia and renal dysfunction for 7 years. On admission, she showed marked hypercalcemia (up to 15.5 mg/dl) and renal failure (serum creatinine 2.5 mg/dl). Plasma intact PTH level was elevated (up to 190 pg/ml), and thyroid ultrasonography and (99m) Tc-MIBI scintigraphy detected a parathyroid mass, which was surgically removed and histologically confirmed to be a parathyroid adenoma. However, even after surgery her serum calcium remained elevated, but subsequent administration of glucocorticoid for sarcoidosis completely normalized her hypercalcemia. The simultaneous occurrence of primary hyperparathyroidism and sarcoidosis is rare, and our data suggest that high plasma PTH and 1,25(OH)D exerted an additive effect on the occurrence of severe hypercalcemia.
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PMID:Coexisting primary hyperparathyroidism and sarcoidosis in a patient with severe hypercalcemia. 1838 29

Primary hyperparathyroidism in children is very rare. It is caused by overproduction of parathormone by a pathologically changed parathyroid gland. We carried out a retrospective study in 10 patients (age 10-17 years) who had surgical treatment between 1996 and 2007. The main signs of primary hyperparathyroidism were urolithiasis, nephrolithiasis, nephrocalcinosis and bone resorption, as well as non-specific signs such as fatigue, torpidness and muscle weakness. Patients were examined using sonography, MIBI-scintigraphy, CT and MRI. Calcium was measured before and after surgery; parathormone was monitored postoperatively. Surgery was curative in nine patients; reoperation was necessary in one patient because an ectopic parathyroid gland was not detected during the primary operation. Other major complications were not observed. Removal of pathologically changed parathyroid glands offers definitive and safe treatment of primary hyperparathyroidism in children. Special care should be taken if an ectopic parathyroid gland is suspected.
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PMID:Surgical treatment of primary hyperparathyroidism in children: report of 10 cases. 1851 6

Primary Hyperparathyroidism (HPT) is an inappropriate hyper secretion of parathyroid hormone (PTH). Primary HPT is caused by parathyroid adenoma in 80-85% of patients. Clinical manifestations are kidney stones, abdominal groans, painful bones, psychic moans, and fatigue overtones. Ultrasonography is widely used in suspected cases for localization of parathyroid adenoma. There is considerable intra-observer variation and it is difficult for ultrasound alone to differentiate parathyroid lesion form that of thyroid. Dual phase Tc-99m MIBI scinitigraphy for detection of parathyroid adenomas has sensitivity and specificity values ranging from 82% to 100% and from 89% to 100%, respectively. Percutaneous ethanol injection for parathyroid glands can be applied effectively in selected cases when surgery is unadvisable either for technical reasons (e.g., recurrence ofhyperplastic glands in the neck after subtotal surgery or intrathyroideal parathyroid tumors or the poor clinical state of the patient.
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PMID:Dual phase MIBI scintigraphy in diagnosis of parathyroid adenoma followed by ultrasound guided percutaneous alcoholic ablation. 1961 May 43

This review discusses gastrointestinal manifestations of parathyroid diseases. Parathyroid hormone is the primary regulator of calcium physiology. Hypoparathyroidism can be idiopathic, hereditary, or secondary to surgery in the neck. Hyperparathyroidism is usually from adenomas or hyperplasia. Hypoparathyroidism is associated with steatorrhea that may improve with medium-chain triglycerides, correction of the hypoparathyroidism, or administration of vitamin D. Hyperparathyroidism results in constipation because of reduction in neuromuscular excitability by high calcium levels. According to old literature, the incidence of peptic ulcer disease (PUD) in patients with hyperparathyroidism is 9% compared with autopsy rates of 4% to 5%. Any association is difficult to prove today, as hyperparathyroidism is usually mild due to early detection of cases through routine automated measurements of calcium. In addition, PUD is less prevalent now than before the advent of proton pump inhibitors. The presence of ulcers or ulcer symptoms may correct in some patients after parathyroidectomy, suggesting an association. The incidence of pancreatitis in patients with primary hyperparathyroidism ranges from 1.5% to 12% and may be because of the hypercalcemia. Complicating the issue is secondary hyperparathyroidism in response to hypocalcemia from pancreatitis. Pancreatitis may improve in some individuals after parathyroidectomy. Pancreatitis may follow parathyroid surgery because of an acute rise in calcium levels with manipulation of the parathyroid glands or to a blunted response of calcitonin-producing cells from fatigue. Parathyroid diseases have a few distinct effects on the gut: steatorrhea in hypoparathyroidism, and constipation, PUD, and pancreatitis in hyperparathyroidism.
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PMID:The parathyroids and the gut. 2048 90

A 72 year old gentleman presented to the emergency department with symptoms of diffuse joint and muscular pain, fatigue and diminished memory. Serum calcium and parathyroid hormone levels were raised, consistent with primary hyperparathyroidism. No abnormality was found on an ultrasound scan of the neck. However, a sestamibi scan suggested a possible adenoma in the anterior mediastinum, which on computed tomography (CT) scan was 1.5 cm in size. A partial upper sternotomy was performed in order to excise the adenoma and his symptoms disappeared within several weeks. This case highlights the variable and commonly nonspecific symptoms of primary hyperparathyroidism and the less well known fact that parathyroid adenoma may occasionally be found intrathoracically.
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PMID:[Primary hyperparathyroidism due to an intrathoracic parathyroid adenoma. - A case report and review of the literature]. 2060 47

In the present paper, we report a female patient with multiple cystic lesions of bone arising from the primary hyperparathyroidism and pathological femur and contralateral tibia fractures at the level of these cystic lesions (osteitis fibrosa cystica). The patient's history revealed that she was admitted to a medical center with vague symptoms such as sudden onset of dyspepsia, loss of appetite, myalgia, arthralgia, fatigue, and weight loss six years ago but no disease was diagnosed. Loss of appetite and loss of weight continued. She had been walking only by assisted ambulation for the last year. However, primary hyperparathyroidism was overlooked until our examination. The fractures were managed by interlocking nailing and grafting after confirming with biopsy that the fractures were due to osteitis fibrosa cystica. The fractures healed uneventfully. In conclusion, it is essential to evaluate patients with these vague symptoms with full biochemical screening and radiological examination for the early detection of the disease.
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PMID:[Overlooked primary hyperparathyroidism presented with fractures: case report]. 2115 54

Objective To discuss the presentation, diagnosis, and management of primary hyperparathyroidism (PHPT) in family medicine. Quality of evidence MEDLINE was searched from 2002 to 2009 using the terms presentation, diagnosis, and treatment of PHPT. Proceedings and guidelines from the Third International Workshop on Primary Hyperparathyroidism in May 2008 were reviewed in detail. Most studies offered level II and III evidence, although there were a number of single randomized controlled trials on PHPT (level I evidence). References from pertinent papers were also searched for relevant articles. Articles most relevant to family medicine and primary care practitioners are presented. Main message Primary hyperparathyroidism is the most common cause of hypercalcemia in outpatients. In the Western world, most patients with PHPT present with nonspecific symptoms such as fatigue, mood disturbances, and cognitive impairments. Diagnosis is established when intact parathyroid hormone levels are elevated or at the high end of the normal range in the setting of elevated total or ionized calcium levels (following exclusion of conditions that can mimic PHPT). Criteria for surgery have recently been modified. Surgery is always a suitable option in those with symptomatic PHPT and no contraindications. Those with contraindications or with asymptomatic PHPT not meeting the criteria for surgery can generally be safely monitored and considered for medical management. This might include treatment with bisphosphonates, hormone replacement therapy, raloxifene, or calcimimetic agents; however, there are currently no fracture data for any of these options. Conclusion The definitive therapy for symptomatic and asymptomatic PHPT is parathyroidectomy. In patients with asymptomatic PHPT not meeting the criteria for surgery, monitoring is safe and medical management designed to target skeletal protection or lower serum calcium is a suitable option.
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PMID:Primary hyperparathyroidism: Update on presentation, diagnosis, and management in primary care. 2132 Nov 69

The surface electrocardiogram (ECG) has been used as a useful method for detection of metabolic disturbances for a long time. However, it may be difficult to distinguish the exact disturbance when more than one metabolic abnormality exists in a patient simultaneously. Although, "classic" ECG characterizations of common electrolyte disturbances are well described, multiple concurrent electrolyte disturbances may lead to ECG abnormalities that may not be easily detectable. This ECG concerns a 60-year-old male presented with general fatigue, weakness, epigastric pain, anorexia, nausea and extreme hypercalcemia (serum total and ionized calcium levels 20.5 mg/dL and 12.02 mg/dl, respectively), hypokalemia and hypomagnesemia associated with elevated parathyroid hormone (1160 pg/ml) and normal serum vitamin D level (97 ng/ml) . This rare manifestation of primary hyperparathyroidism has been named hyperparathyroid crisis in the literature. Hyperparathyroid crisis is an emergency form of multiple electrolyte abnormalities that manifest as a life-threatening hypercalcemia and simultaneous hypokalemia and hypomagnesemia; these two later are believed to be caused by diuretic effect of calcium on the renal tubules. The unique pattern of ECG in our patient first was misdiagnosed as prominent T waves with prolongation of the QT corrected (QTc) interval, which has been reported several times in patients with hyperparathyroidism crisis, compatible with our patient. But more investigation revealed that, the QTc interval not only is not prolonged, it is shortened as it is expected from the effect of hypercalcemia on electrocardiogram. The exact pattern of the patient`s ECG (figure 1) can be interpreted as it follows: (1) Flattening of the T wave, (2) a prominent U wave, (3) prolongation of the descending limb of the T wave such that it overlapped with the next U wave (4) virtual absence of ST segment and (5) shortening of the QT corrected interval. In conclusion, it should be emphasized when the T and U waves are separated by a very short segment they can mimic the appearance of a prolonged QT interval. However, more investigation can demonstrate the exact electrocardiographic pattern especially in multiple electrolyte disturbances, when "classic" ECG patterns are not expectable.
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PMID:A rare electrocardiographic manifestation of a rare form of multiple electrolyte disturbances: hyperparathyroid crisis. 2217 73


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