Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 69-year-old man was admitted with fatigue, anorexia, and slight fever. Gastroscopy showed a tumor in the stomach, and biopsy revealed a poorly differentiated adenocarcinoma. CT scan revealed a tumor of the stomach, a tumor in the lower lobe of the right lung, and multiple tumors in the liver. Moreover, he was drowsy, probably caused by severe hypocalcemia thought to be caused by parathyroid hormone related protein. We treated him with S-1, but the gastric tumors progressed rapidly and massive pleural effusion developed. He died on the 16th day after admission. At autopsy, the histology of the lung tumor was found to be pleomorphic carcinoma, and that had metastasized to the stomach, the liver, and other abdominal organs. We treated a rare case of pleomorphic carcinoma with hypercalcemia that was discovered due to gastric metastasis.
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PMID:[A case of stomach metastasis of pleomorphic carcinoma of the lung with hypercalcemia]. 2279 Jun 25

We describe the clinical and genetic findings in pedigree with a novel mutation in the calcium sensing receptor (CaSR) gene and the unusual coexistence of primary hyperparathyroidism (HPT) and familial hypocalciuric hypercalcaemia (FHH) and its clinical management. The occurrence of both FHH and primary HPT in the same patient has been described rarely. Our pedigree has a novel mutation in the CaSR gene. Parathyroidectomy led to a reduction, but not normalization of the calcium levels in the patient identified as having HPT. The coexistence of HPT and FHH was considered in this patient as her calcium and PTH levels were rising with time. Surgical resection of her parathyroid adenoma resulted in reduction of her calcium levels to above normal and significant reduction in her symptoms of fatigue and low mood.
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PMID:Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene. 2308 33

Background. Primary hyperparathyroidism in childhood is a very rare entity, often being diagnosed late after the onset of its presenting symptoms. It most commonly affects patients in their fourth decade of life and beyond. The inclusion of primary hyperparathyroidism in the differential diagnosis is necessary when evaluating patients presenting with nonspecific symptoms such as polyuria, fatigue, weight loss, abdominal pain, nausea, and vomiting. Methods. We report the case of an eleven-year-old girl presenting with three years history of headaches, visual disturbance, along with episodes of emotional lability. Neuroimaging confirmed a large posterior fossa arachnoid cyst. It was decided to manage this lesion conservatively with surveillance. Only after further hospital admissions with recurrent loss of consciousness, dizziness, and nausea to add to her already existing symptoms, a full biochemical and endocrine assessment was performed to look for more specific causes for her presentation. These pointed to a diagnosis of primary hyperparathyroidism. Conclusions. The inclusion of primary hyperparathyroidism in the differential diagnosis should be considered when evaluating paediatric patients presenting with nonspecific (neurological, gastrointestinal, and renal) symptoms in order to establish a prompt diagnosis of the disorder and to avoid severe complications of prolonged hypercalcaemia and end-organ damage.
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PMID:Posterior fossa arachnoid cyst masking a delayed diagnosis of hyperparathyroidism in a child. 2322 72

Primary hyperparathyroidism (PHPT) is the most common cause of hypercalcemia in the outpatient population. It is diagnosed in most individuals in the Western world at an asymptomatic stage without signs or symptoms of parathyroid hormone (PTH) calcium excess. Nonspecific symptoms include weakness, malaise, fatigue, and possible mood disturbances, which may be present at the time of diagnosis. The diagnosis of PHPT is confirmed in the presence of hypercalcemia and a normal or elevated PTH level in the absence of conditions that mimic PHPT. Indications for surgery have recently been revised based on international consensus, and surgery is advised in the presence of significant hypercalcemia, impaired renal function, and osteoporosis and in individuals younger than 50yr. The classical complications of PHPT are skeletal fragility, nephrolithiasis, and nephrocalcinosis. Surgery is always appropriate in an individual with confirmed PHPT after excluding conditions that can mimic PHPT and in the absence of contraindications. Individuals with asymptomatic PHPT not meeting the guidelines for surgery or those with contraindications for surgery may be followed and considered for medical management. For those at an increased risk of fragility fracture, antiresorptive therapy may be considered with close monitoring of biochemical data and bone densitometry. Targeted therapy with a calcimimetic agent may be of value in lowering serum calcium and PTH. There are currently no fracture data for the medical options available, and prospective randomized controlled trials are required to confirm the effects of medical therapy on fracture risk reduction in those with asymptomatic PHPT.
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PMID:Medical management of primary hyperparathyroidism. 2337 43

Supportive care of patients with functional neuroendocrine tumors (NETs) has evolved to include the use of multiple targeted agents to control paraneoplastic states and newer surgical and interventional radiologic techniques to reduce tumor bulk. Challenges encountered by the clinician are the recognition of specific symptom complexes, selecting the relevant laboratory tests and radiologic/scintigraphic scans, and the timing of intervention(s). Individual variables such as the severity of symptoms in the context of primary and metastatic disease sites, tumor bulk, comorbidities, and previous treatment are factors determining the prioritization of specific treatment regimens for patients with functional NETs. Symptoms such as flushing, secretory diarrhea, hypercalcemia, hyper /hypoglycemia, hypercortisolism, and peptic ulcers should improve with decreasing the elevated amino acid and/or peptide levels produced by NETs. These paraneoplastic symptoms may be accompanied by complaints related to tumor burden such as fatigue, pain, early satiety, anorexia, weight loss, night sweats, and/or symptoms secondary to adverse drug effects such as mucositis, dysgeusia, diarrhea, rash, hypertension, and myelosuppression. Developing a comprehensive continuum of care plan early in disease management assists in controlling the presenting signs and symptoms, and in minimizing disease- and/or treatment-related side effects. This guide serves as a framework to manage the signs and symptoms of metastatic functional neuroendocrine tumors.
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PMID:Practical guide to supportive care of patients with functional neuroendocrine tumors. 2339 Nov 12

Sarcoidosis bone is uncommon, and involvement of the skull is exceptionally rare. We present a 65-year-old obese female who presented with a 2-month history of dryness of mouth, polyuria, fatigue, and anorexia. She had generalized lymphadenopathy, organomegaly, and hypercalcemia, and a skeletal survey revealed extensive osteolytic lesions in the skull and phalanges. Both lymph node biopsy from the cervical lymph node and bone marrow examination revealed non-caseating granulomas, suggesting sarcoidosis. She was started on 1 mg/kg oral corticosteroids; during a follow-up of 6 months, she achieved normocalcemia; however, the punched-out lesions in the skull remained unchanged. This case reiterates several important issues that all lymphadenopathy in emerging nations may not be tubercular, and presence of osteolytic lesions in skull are unusual for sarcoid, at an elderly age, necessitates evaluation for more common etiologies like metastases and myeloma. Finally, patients with osseous sarcoid should be on a close follow-up since due to the rarity of this presentation, no definite consensus on the management of such cases exists in the literature.
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PMID:Osseous sarcoid with lytic lesions in skull. 2360 83

The incidence of hepatocellular carcinoma (HCC) is increasing. In addition, its presentation without bony metastasis as a part of paraneoplastic syndrome is recognised but uncommon. This unusual presentation of HCC is highlighted in the case of a 63 years old lady, who presented with lethargy and tiredness and hypercalcaemia due to secretion of parathryoid hormone related peptide (PTHrP). Further imaging showed 11 cm hepatic mass, with normal alpha fetoprotein. She underwent partial hepatectomy and is doing well since then. Malignant hypercalcaemia is thought to arise from the secretion of PTHrP which is synthesised by tumour cells and has a similar action to parathyroid hormone. Early recognition of this uncommon condition can lead to complete cure as seen in our patient.
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PMID:Parathryoid hormone related peptide causing hypercalcaemia in a patient with hepatocellular carcinoma. 2389 9

Description of a variant of multiple myeloma in a dog lacking the gammopathy normally associated with this type of neoplasm. A Border Collie mongrel was presented with symptoms of progressive hind-leg weakness, lethargy and tiredness, which had started to appear 6 weeks previously. Radiographic examination showed small osteolytic areas in the spinal column, but also diffuse small areas of increased opacity as well as evidence of decreased bone density in the pelvis and of both femoral necks. Moderate regenerative anaemia, hypogammopathy and hypercalcaemia were diagnosed. Computed tomography scans displayed multifocal osteolysis and bone destruction in the skull, spinal column, scapulae, proximal humeri, pelvis and femoral necks. H&E staining of the biopsies showed bone destruction and monomorphic plasmacyotid cell populations, causing infiltrative bone marrow lesions and osteolysis. In many areas neoplastic plasma cell infiltration of the bone marrow was 70% and in some areas reached 100%. The diagnosis was non-secretory multiple myeloma without apparent secretion of paraproteins into the blood.
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PMID:[Multiple myeloma with significant multifocal osteolysis in a dog without a detectible gammopathy]. 2432 82

Sarcoidosis can be a major therapeutic challenge given its multiplicity of clinical presentations, variable combination of organ involvement and severity, and unpredictable longitudinal behaviour. Six manifestations of sarcoidosis are especially difficult to manage because of (i) an incomplete knowledge of causation - fatigue and small fibre neuropathy, (ii) the rare occurrence in sarcoidosis - intra-abdominal complications or (iii) the potentially life-threatening consequences in some patients - neurological disease, pulmonary hypertension and hypercalcaemia. In none of these situations have a prospective, double-blind, placebo-controlled trial of any therapy been conducted. Despite this absence of any firm evidence base to support therapeutic recommendations, these six entities can be extremely problematic for the practising clinician. It is for this reason that we have focused in this review on these six disease manifestations and provided a synopsis of each problem together with suggested treatment approaches, based on an analysis of the current literature.
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PMID:Approaches to the treatment of some of the troublesome manifestations of sarcoidosis. 2443 97

A 60-year-old man developed stomach pains and early morning vomiting as well as fatigue over the last few months. Severe hypercalcemia was found in combination with a significantly reduced renal function. Laboratory tests as well as histological findings from the kidneys led to the working diagnosis of sarcoidosis with renal and possible osseous manifestations. After 14 days of oral medication with steroids the symptoms were significantly improved and renal parameters normalized.
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PMID:[Chronic renal insufficiency with hypercalcemia in a 60-year-old patient]. 2483 83


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