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)

Primary hyperparathyroidism is a fairly frequent pathologic diagnosis characterized by hypersecretion of parathyroid hormone, which results from adenomas in 80% to 85% of all cases. At clinical onset, the most common symptoms are hypercalcemia-related and some of them are pain due to kidney stones, polyuria, gastrointestinal, and neurologic disorders, whereas rarer symptoms are due to brown tumors and expansive lesions often found in fibrocystic osteitis. Brown tumors represent the terminal stage of the remodeling processes caused by an increased osteoclastic activity and fibroblastic proliferation during primary or secondary, albeit more seldom, hyperparathyroidism. The manifestation of primary hyperparathyroidism as skeletal disease has nearly disappeared in the last 2 decades. Cases are now most often diagnosed by the coincidental finding of asymptomatic hypercalcemia. Advanced screening techniques have made clinical evidence of bone disease rare. This article contains a case of brown tumor on the maxilla, palate, and mandible in addition to nephrectomy and proximal femur fracture, which are probably associated with primary hyperparathyroidism although less common nowadays. The diagnosis was suggested by the clinical history and confirmed by biochemical, radiologic, and histopathologic evidence. Excision of a parathyroid adenoma normalization of the metabolic status was then realized.
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PMID:Primary hyperparathyroidism presenting as a palatal and mandibular brown tumor. 1988 50

Patients with calcium concentrations above 3 mmol/L typically start to develop symptoms of hypercalcaemia, which can include nausea, vomiting, thirst and polyuria, malaise, confusion, lowered pain threshold and coma. Milder hypercalcaemia (calcium concentrations <3 mmol/L) is often asymptomatic, and the problem is therefore usually discovered as an incidental finding on routine biochemical screening. Primary hyperparathyroidism is a common cause of hypercalcaemia. Here, we consider the recognition and further management of patients presenting with asymptomatic primary hyperparathyroidism in primary care.
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PMID:Managing primary hyperparathyroidism in primary care. 2020 Jan 46

A 63-year-old woman presented to the Orthopedic Unit of our hospital complaining of right hip pain of 6 months' duration associated with a worsening limp. Her past medical history included chronic renal insufficiency. Physical examination revealed deep pain in the iliac region and severe restriction of the right hip's articular function in the maximum degrees of range of motion. X-rays and CT scan detected an osteolytic and expansive lesion of the right supra-acetabular region with structural reabsorption of the right iliac wing. 99mTc-MDP whole-body bone scan showed an abnormal uptake in the right iliac region. Bone biopsy revealed an osteolytic lesion with multinucleated giant cells, indicating a brown tumor. Serum intact PTH was elevated (1020 pg/ml; normal values, 12-62 pg/ml), but her serum calcium was normal (total=9.4 mg/dl, nv 8.5-10.5; ionized=5.0 mg/dl, nv 4.2-5.4) due to the coexistence of chronic renal failure. 99mTc-MIBI scintigraphy revealed a single focus of sestamibi accumulation in the left retrosternal location, which turned out to be an intrathoracic parathyroid adenoma at surgical exploration. After surgical removal of the parathyroid adenoma, PTH levels decreased to 212 pg/ml. Three months after parathyroidectomy, the imaging studies showed complete recovery of the osteolytic lesion, thus avoiding any orthopedic surgery. This case is noteworthy because (1) primary hyperparathyroidism was not suspected due to the normocalcemia, likely attributable to the coexistence of chronic renal failure; and (2) it was associated with a brown tumor of unusual location (right supra-acetabular region).
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PMID:Supra-acetabular brown tumor due to primary hyperparathyroidism associated with chronic renal failure. 2045 61

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

We report a case of neglected bilateral femoral neck fracture related with transient osteoporosis in pregnancy (TOP) and primary hyperparathyroidism, in a 33-year-old female who presented with a fracture of both femoral necks without any history of trauma 20 days after delivery. Her pain was at first accepted as common musculoskeletal discomfort following labour, and the final diagnosis was made only 25 days after fracture. She was treated with primary internal fixation with cannulated lag screws and received medical treatment for hyperparathyroidism and TOP. She was followed up for 29 months following the operation. No complications, and more specifically no avascular necrosis (AVN) were noted during this time interval. The patient made a complete functional recovery. We would like to emphasize that major medical problems may be underdiagnosed during the last pregnancy trimester and postpartum period. Delay in the diagnosis and treatment of a femoral neck fracture is an important but not a decisive factor for the development of AVN.
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PMID:Neglected bilateral femoral neck fracture associated with pregnancy and primary hyperparathyroidism. 2097 68

Recurrent and persistent primary hyperparathyroidism remains a significant surgical challenge. Abnormal, hypersecreting parathyroid glands are found in ectopic locations in up to 15% to 20% of patients. A small portion of these ectopic glands will be found in the mediastinum at a location that precludes removal through the traditional cervical incision. Minimally invasive approaches to these glands are desirable because of the significant morbidity, pain, and hospital stay associated with sternotomy or thoracotomy. Recently, robotic approaches have been described for mediastinal parathyroids. We report a case of young woman with persistent primary hyperparathyroidism who was cured after undergoing robotic thoracoscopic mediastinal parathyroidectomy using radiooperative and intraoperative parathyroid hormone guidance.
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PMID:Robotic thoracoscopic mediastinal parathyroidectomy for persistent hyperparathyroidism: case report and review of the literature. 2130 68

We describe the first case of brown tumor mimicking a maxillary sinus mucocele as the first manifestation of the patient's primary hyperparathyroidism. A 34-year old woman presented with a 14 days history of elevation of the right orbit, retrobulbar pain and cheek anesthesia. The CT and MR evaluation showed a mass, initially described as mucocele of the right maxillary sinus. The laboratory studies revealed hyperparathyroidism. The patient underwent acute surgery, and the mass appeared clinically as mucocele. The histological examination of the resected lesion revealed changes representing either giant cell granuloma or brown tumor. The finding of hyperparathyroidism confirmed the diagnosis of brown tumor. To our knowledge, this is the first report of cystic brown tumor mimicking a mucocele of the maxillary sinus.
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PMID:Brown tumor mimicking maxillary sinus mucocele as the first manifestation of primary hyperparathyroidism. 2188 Apr 46

Among adrenal incidentalomas, pheochromocytomas are rare. Malignant pheochromocytoma is even less common, and it typically presents with classic hormonal symptoms, such as palpitations, labile blood pressures, and headaches. Bony metastasis usually occurs late in disease, but we report an unusual case of incapacitating bony pain as the initial presentation of malignant pheochromocytoma. Our patient is a 70-year-old woman with neurofibromatosis type 1 and a history of primary hyperparathyroidism, who tested negative for the ret mutation. She came to medical attention with chest pain and palpitations and was incidentally found to have an adrenal mass. Serum and urine testing was consistent with pheochromocytoma. Her blood pressure was easily controlled as she awaited elective adrenalectomy; however, she quickly developed severe, diffuse bony pain. She represented with hypercalcemia, spontaneous fractures, and incapacitating pain that required such high doses of pain medications that she had to be intubated. Further imaging and bone marrow biopsy confirmed metastatic neuroendocrine tumor. She received one round of chemotherapy with no change in her bony pain, which was her primary complaint. Unfortunately, her treatment options were limited by the heavy sedation required for comfort, and in the end, it was her bony pain rather than hormonal symptoms that made her disease untreatable.
Pain Pract 2012 Apr
PMID:Malignant pheochromocytoma presenting as incapacitating bony pain. 2267 44

We report a 79-year-old male patient presenting with progressive memory loss associated with anxiety and muscular pain. An extensive biochemical control revealed high serum calcium and parathormone levels, and normal thyroid hormones. Cognitive assessment prior to surgery was compatible with mild cognitive impairment, showing significant improvement two months after parathyroidectomy. Our case suggests that, although rare, primary hyperparathyroidism should be considered as a possible cause of cognitive decline in the elderly.
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PMID:[Cognitive impairment associated to primary hyperparathyroidism: report of one case]. 2205 16

Primary hyperparathyroidism (PHPT) is characterized by the autonomous production of parathyroid hormone (PTH), in which there is hypercalcemia or normal-high serum calcium levels in the presence of elevated or inappropriately normal serum PTH concentrations. Exceptionally in symptomatic patients, a diagnostic can be established on the basis of clinical data. PHPT must always be evaluated in patients with clinical histories of nephrolithiasis, nephrocalcinosis, osseous pain, subperiosteal resorption, and pathologic fractures, as well as in those with osteoporosis-osteopenia, a personal history of neck irradiation, or a family history of multiple endocrine neoplasia syndrome (types 1 or 2). Diagnosis of PHPT is biochemical. Asymptomatic hypercalcemia without guiding signs or symptoms is the most frequent manifestation of the disease. For differential diagnosis, PTH must be measured, as well as phosphate, chloride, 25-hydroxyvitamin D, 1,25 dyhidroxyvitamin D and calcium-to-creatinine clearance. The diagnosis and differential diagnosis of primary hyperparathyroidism will be discussed here.
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PMID:Hyperparathyroidism: primary or secondary disease? 2208 66


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