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 (PHPT) was the most likely diagnosis in 68 non-thiazide-treated patients with hypercalcaemia detected in a health screening. The group comprised 55 females and 13 males, with a mean age of 55.0 +/- 0.7 (S.E.M.) years. On a pair basis these patients (the observation group) were compared with a series of 68 age- and sex-matched normocalcaemic subjects (the control group) selected from the health screening register. Renal calcui and reduced creatinine clearance were encountered less frequently in the observation group than in many reports of hospitalized patients with PHPT. Compared with the control group, the observation group comprised a greater number of subjects with renal calculi (usually multiple and bilateral), constipation, mental depression and reduced creatinine clearance. The ECG Q-T interval was shorter in the observation group than in the control group. No differences were found with respect to the occurrence of gastritis and/or peptic ulcer, poly-dipsia, polyuria and general muscle weakness. On the basis of this and a previous study it was concluded that at least 3% of the 15903 subjects participating in the health screening suffered from "asymptomatic" hypercalcaemia and most probably from "asymptomatic" PHPT.
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PMID:Clinical and laboratory findings in subjects with hypercalcaemia. A study including cases with primary hyperparathyroidism detected in a health screening. 98 6

A female with premary hyperparathyroidism and secondary renal lesions, as well as lesions of the stomach and pancreas is described. The initial illness was manifested by repeated renal crises. Later, gastroenterological complaints appeared--epigastralgia, vomiting, frequent hematemesis with melena. That was the cause for a gastric resection, diffuse erosive gastritis being found. After the operation, the pains and the vomiting of hematin matter repeatedly recidivated. Clinically and at the laboratory, data were formed for a chronic recidivating pancreatitis with the presence of primary hyperparathyroidism. The postoperative treatment of the parathyroid adenoma led to an improvement of the gastroenterological complaints.
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PMID:[Chronic recurrent pancreatitis with erosive gastritis in a patient with primary hyperparathyroidism]. 101 31

It is generally accepted that some patients affected by mild asymptomatic primary hyperparathyroidism need not be treated with surgery, but may be medically managed without risk. However, our experience regarding 5 of these cases observed in the last two years, suggests a different approach. These patients, initially diagnosed as having mild hyperparathyroidism based on only moderately elevated serum concentrations of calcium and followed medically for years, were referred to us for a sudden worsening of their clinical course. One 35-year-old man presented hemorrhagic gastritis with severe anemia and type II AV block with syncopal attacks. Three women, aged 51, 64 and 65 years, presented with severe hypercalcemia associated with renal failure in two and with marked bone disease in another. In all these cases parathyroid neoplasms were preoperatively localized (by ultrasonography, CT scan and radioactive 201-Tl 99-Tc scan) and surgically removed. Histological examination showed a parathyroid carcinoma in the male patient and single gland enlargements in the three females. A fifth patient, a 65-year-old woman, was referred to us in critical condition: severe hypercalcemia, osteopenia with femur fracture, myocardial infarction and renal failure. She died in a few days, in spite of intensive medical care. These cases suggest that patients with hyperparathyroidism initially diagnosed as "mild" need close medical observation and preferably, in our opinion, should undergo surgery.
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PMID:Acute complications in the course of "mild" hyperparathyroidism. 180 15

Gastrin levels have been reported to be often increased in patients with primary hyperparathyroidism (PHPT) considered to be caused by hypercalcemia. To determine the prevalence of increased basal gastrin and to investigate its causes, 52 consecutive patients with PHPT were studied prospectively, undergoing a clinical, biochemical, and gastric morphofunctional assessment before any parathyroid surgical procedure. This included evaluation of basal and secretin-stimulated gastrin, basal and pentagastrin-stimulated gastric acid secretion, upper gastrointestinal endoscopy, with histological evaluation for gastritis and Helicobacter pylori infection. Twenty of the 52 PHPT patients (38.5%) had increased fasting gastrin. Further investigation allowed us to clearly demonstrate the causes of hypergastrinemia in 16 of these 20 patients. In 7 of 20 (35%), hypergastrinemia was caused by gastric fundus atrophy; in 3 patients (15%), Zollinger-Ellison syndrome with Multiple Endocrine Neoplasia type I was diagnosed; whereas in another 20% of patients, mild hypergastrinemia was ascribed to Helicobacter pylori gastritis. Finally, in 2 patients, additional clinical history revealed an occasional use of the gastric antisecretory drug omeprazole a few days before the serum gastrin determination. This study shows that the hypercalcemic status per se is not sufficient to produce an increase in fasting gastrin levels. Furthermore, gastric fundus atrophy, and not gastrinoma, is the major cause of relevant (>160 pg/mL) hypergastrinemia.
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PMID:Prevalence and causes of hypergastrinemia in primary hyperparathyroidism: a prospective study. 1059 18

Dyspeptic symptoms are common in patients with primary hyperparathyroidism (PHPT) and have been attributed to hypercalcemia; however, they may also become permanent after parathyroid surgery. We aimed to evaluate the prevalence of Helicobacter pylori in patients with PHPT and to see whether there is a relationship between dyspeptic complaints and H. pylori infection. Of 21 patients with PHPT, 18 patients had dyspeptic complaints. These 18 female patients with PHPT and dyspeptic symptoms were the study population, and 20 female volunteers with dyspeptic symptoms were the controls. An endoscopic examination was performed in all controls and in patients before parathyroid surgery. H. pylori was assessed by serological and histological evaluation. H. pylori was identified upon histological evaluation in 17 patients (94.4%) and serologically in 17 patients (94.4%). Active macroscopic and microscopic gastritis were found in 15 (83.3%) and in 17 (94.4%) of the patients, respectively. In the control group, H. pylori was identified histologically in 13 subjects (65%) and serologically in 17 subjects (85%). The prevalence of H. pylori assessed by histological examination was significantly (P < 0.05) different between patients and controls. There was a significant association between H. pylori infection identified by histology and/or serology and the presence of microscopic (r = 1; P < 0.001), as well as macroscopic (r = 0.54; P < 0.05), gastritis. In conclusion, this study showed that H. pylori infection was found frequently (85.7%) in patients with PHPT. In the management of PHPT with or without surgery, patients, especially those with dyspeptic symptoms, should be evaluated for H. pylori infection, which can be effectively eradicated by appropriate therapy.
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PMID:Prevalence of Helicobacter pylori in patients with primary hyperparathyroidism. 1168 53

Multiple endocrine neoplasm type 1 (MEN1) syndrome predisposes to the development of endocrine and non-endocrine tumors with an autosomal dominant pattern of inheritance. Different mutations have been found throughout the gene with a variable phenotype expression. The proband, a Caucasian man, was admitted to our department in 2001, at the age of 51 because of a 1-yr history of diarrhoea and hypertension. He reported a previous intestinal resection for bowel occlusion with a histological diagnosis of unspecified mesenchymal neoplasia. He had also undergone a left adrenalectomy for a large nonfunctioning adrenal adenoma. Subsequently, he had suffered from gastralgia and melena; a gastroduodenoscopy showed an erosive gastritis. His family history was negative for endocrine disorders. On physical examination, multiple abdominal cutaneous lipomas and facial angiofibromas were observed. Biochemical screening revealed a primary hyperparathyroidism and an increase in circulating levels of PRL, chromogranin-A, gastrin and glucagon. The whole body computed tomography (CT) scan, the 111In-octreotide scan and the pituitary magnetic resonance imaging (MRI) did not reveal any abnormality. The presence of small neuroendocrine tumors was suspected by a positron emission tomography uptake in the epigastric region. The endoscopic ultrasound revealed a pancreatic lesion sized 1.1 cm that is under evaluation. Direct DNA sequencing analysis of the proband MEN1 gene revealed the 579delG frameshift mutation in the exon 3. The genetic screening of the family revealed the same mutation in 3 out of 5 offspring. The biochemical screening revealed some features of the MEN1 syndrome in all three of them. In conclusion, a novel frameshift MEN1 mutation was found in kindred with an apparently negative family history. Our experience confirms that MEN1 syndrome is a complex and underestimated condition, unless specifically investigated by trained specialists.
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PMID:MEN1 family with a novel frameshift mutation. 1679 69

Helicobacter pylori (H pylori) infection is a leading world-wide infectious disease as it affects more than half of the world population and causes chronic gastritis, peptic ulcer disease and gastric malignancies. The infection elicits a chronic cellular inflammatory response in the gastric mucosa. However, the effects of this local inflammation may not be confined solely to the digestive tract but may spread to involve extra-intestinal tissues and/or organs. Indeed, H pylori infection has been epidemiologically linked to extra-digestive conditions and diseases. In this context, it has been speculated that H pylori infection may be responsible for various endocrine disorders, such as autoimmune thyroid diseases, diabetes mellitus, dyslipidemia, obesity, osteoporosis and primary hyperparathyroidism. This is a review of the relationship between H pylori infection and these endocrine disorders.
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PMID:Helicobacter pylori infection and endocrine disorders: is there a link? 1952 19

Primary Hyperparathyroidism (PHP) is a rare event in pregnancy; Maternal complications in PHP patients can be as high as 67%. It can be overlooked easily because of many similar complaints shared by hyperparathyroidism and pregnancy such as nausea and vomiting, gastritis, bone aches, easy fatigability. Hypercalcemic crisis can develop resulting in coma and death. Neonatal effects are tetany and death in about 80% of cases. We report a case, of an antenatal woman at 30 weeks gestation with complains of painful swelling in left lower jaw and below right knee, pain over right hip joint and frequent episodes of gastritis. She was finally diagnosed to have primary hyperparathyroidism and brown tumour due to parathyroid adenoma. The baby was kept in Neonatal Intensive Care Unit (NICU) for three weeks, in view of prematurity with respiratory distress and later developed sepsis with DIC. The patient's signs and symptoms regressed after parathyroid surgery and the baby was healthy at the time of discharge. This case highlights the progressive deterioration of the patient because of lack of awareness of this disease process and its impact on maternal and foetal morbidity.
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PMID:Hyperparathyroidism during Pregnancy- A Diagnostic and Therapeutic Challenge. 2920 88

Neuroendocrine tumors (NETs) of cystic duct are extremely rare, accounting for less than 2% of NET cases. The association of biliary tree NET and multiple endocrine neoplasm type 1 (MEN1) are even more rare. In this report, we described a case of a 65-year-old woman who was referred to our neuroendocrine outpatient clinic to investigate MEN1 after an incidental diagnosis of gastrinoma. Her medical history initiated 7 years earlier with severe peptic disease not responsive to proton pump inhibitor therapy. Endoscopic study revealed erosive antral gastritis, erosive duodenitis, bulbar ulcer and pyloric deformity. During follow-up she presented with abdominal pain, chronic diarrhea and weight loss; an ultrasonography was performed and showed only a cholelithiasis. She underwent a video laparoscopic cholecystectomy and all her symptoms were solved. Histopathological study found a 1.0 cm well differentiated NET (Ki-67 labeling index < 2%) located in cystic duct infiltrating the entire wall and subserosa. The MEN1 investigation revealed a primary hyperparathyroidism with a brown tumor in right iliac bone; the patient was referred to a total parathyroidectomy with autotransplantation. No evidence of pituitary tumor was found. The patient remains asymptomatic 24 months after surgery. To conclude, this case highlights an unusual presentation of a cystic duct primary NET gastrinoma in a MEN1 context.
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PMID:Gastrinoma of Cystic Duct: A Rare Association With Multiple Endocrine Neoplasia Type 1. 3034 20