Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Zollinger-Ellison syndrome (ZES) is characterized by gastrinoma and resultant hypergastrinemia, which leads to recurrent peptic ulcers. Because gastrinoma is the most common pancreatic endocrine tumor seen in multiple endocrine neoplasia type I (MEN 1), the possibility of gastrinoma should be investigated carefully when patients exhibit symptoms associated with hormonal changes. Ureteral stones associated with hyperparathyroidism in the early course of MEN 1 are known to be its most common clinical manifestation; appropriate evaluation and close follow-up of patients with hypercalcemic urolithiasis can lead to an early diagnosis of gastrinoma. We report a patient with ZES associated with MEN 1, and urolithiasis as the presenting entity. A 51-year-old man visited the emergency department with recurrent epigastric pain. He had a history of calcium urinary stone 3 years ago, and 2 years later he had 2 operations for multiple jejunal ulcer perforations; these surgeries were 9 months apart. He was taking intermittent courses of antiulcer medication. Multiple peripancreatic nodular masses, a hepatic metastasis, parathyroid hyperplasia, and a pituitary microadenoma were confirmed by multimodal imaging studies. We diagnosed ZES with MEN 1 and performed sequential surgical excision of the gastrinomas and the parathyroid adenoma. The patient received octreotide injection therapy and close follow-up.
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PMID:A case of Zollinger-Ellison syndrome in multiple endocrine neoplasia type 1 with urolithiasis as the initial presentation. 2387 14

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