Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012833 (dizziness)
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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.
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PMID:[Low-dose cinacalcet reduces serum calcium in patients with primary hyperparathyroidism not eligible for surgery]. 2127 66

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

Parathyroid hyperactivity is the state of over-production and PTH secretion [1]. The most common cause of primary hyperparathyroidism is parathyriod adenoma - about 80% of cases, the remaining are parathyroid hyperplasia around 15%cases [2] [3], and in 1-5% of cases, cancer [2] [3] [4] [5]. The disease is diagnosed inabout 40 people in 100,000 [5] [6] [3] [7]. The most common cause of adenoma is the mutation in gene MEN 1. Less than 5% of cases are chronichyperparathyroidism, which is a component of the MEN 1 MEN 2a endocrine adenocarcinoma syndrome [1]. Excess PTH in the body leads to increased mobilization of calcium from the bones, and henceincreased osteolysis, what also increases the absorption of calcium from thedigestive system, as well as an increased amount of phosphate excretion in the urine. Clinical picture of the disease is multiform and often runs in a latent form. Most often the diseaseoccurs in the form of osteoporosis, chronic recurrent kidney stones, and is also commonpyelonephritis on the basis of urolithiasis. The disease may be accompanied by: dysphagia, abdominal pain, metallic taste in the mouth, persistent constipation. In addition, from the systemnervous: dizziness and headaches, disturbances of consciousness. Arrhythmia the form of additional contractions and paroxysmal tachycardia. Osteolysis, osteoporosis and pathological fractures [1]. The purpose of this article is to bring closer to the reader case of 33 years old woman with primary hyperparathyroidism on the adenoma.
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PMID:Primary hyperparathyroidism on the example of a 33-year-old female patient with parathyroid adenoma. 3275 98