Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A large number of families with familial isolated hyperparathyroidism (FIHP) have been reported. We wanted to determine if some of these families represent early manifestations of full-blown syndromes such as multiple endocrine neoplasia type 1 (MEN-1), as early identification may alter surgical and medical management. Four small families with a family history of hyperparathyroidism without clear-cut MEN-1 features were screened for a MEN1 mutation. The 10 exons of the MEN1 gene were amplified and analyzed by single-strand conformation analysis (SSCA). Abnormal SSCA shifts were then sequenced using an automated sequencer. Two germline mutations were found: R527X and P277H. The former was detected in three members of a family consisting of two children and a mother. At the time of testing the youngest son was normocalcemic and clinically normal but subsequently developed hyperparathyroidism (HPT). Since the initial testing, the family has been confirmed to be a MEN-1 family as the mother has developed abdominal pain and an elevated serum pancreatic polypeptide and the younger brother an anterior pituitary tumor and recurrent HPT. The latter P277H mutation was identified in two of three members tested from another family. Manifestations of MEN-1 syndrome have also developed. The father now has developed diarrhea and elevated serum gastrin; and the daughter has developed recurrent HPT. Genetic screening of families who clinically have FIHP is important and may influence the type of medical and surgical treatment and follow-up, as some have MEN-1 syndrome. Long-term screening for MEN syndromes should be included in this set of patients. Positive screening may predict disease and allow early detection and appropriate treatment before initiation of symptoms.
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PMID:Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. 1201 70

Chronic pancreatitis is a rare differential diagnosis of obstructive jaundice and/or recurrent abdominal pain in childhood and adolescence. The hereditary calcifying and the noncalcifying obstructive form are the two major forms of juvenile chronic pancreatitis. Other causes include cystic fibrosis, hyperparathyroidism, hyperlipoproteinemia and ascariasis. Even less common is the so called idiopathic or fibrosing pancreatitis. Since the first description by Comfort in 1946 only 41 further cases of juvenile idiopathic fibrosing pancreatitis have been published. An association with gene mutations (PRSS1, SPINK1, CTFR-5T genotype) is suspected. We report the cases of a 17-year-old male patient who presented with painless obstructive jaundice and a 16-year-old female patient who presented with abdominal pain and obstructive jaundice. Both patients underwent surgical treatment with duodenum-preserving pancreatic head resection. The relevant literature with special regard to modern pancreatic surgery is reviewed to give an overview about this rare but surgically treatable pediatric condition, which merits the attention of pediatricians and gastroenterologists in cases of children and adolescents suffering from unexplained abdominal pain.
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PMID:Juvenile idiopathic fibrosing pancreatitis. 1206 96

Hypocalcaemia not associated with hypoalbuminaemia or 25(OH)-Vitamin D deficiency is rare and should be referred to a specialist clinic. 25(OH)-Vitamin D deficiency can often be treated safely by GPs, unless it is associated with renal impairment and secondary hyperparathyroidism, in which case a nephrology referral is required. An endocrine referral is required if deficiency is associated with pregnancy, co-existent primary hyperparathyroidism or the patient is receiving warfarin. The key role of the GP in managing hypercalcaemia is to distinguish between malignant and parathyroid causes in order to make the appropriate specialist referral (oncology, endocrine or renal). Severe hypercalcaemia (greater than 3.5 mmol/L or hypercalcaemia with dehydration, abdominal pain or reduced consciousness is a medical emergency.
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PMID:Disorders of calcium metabolism. 1703 12

We report a case of radioguided parathyroidectomy in a patient with parathyroid carcinoma. A 61-year-old woman presented to our center with persistent hypercalcemia (17.2 mg/dL) and hyperparathyroidism (PTH=324 pg/mL) following her second neck resection for recurrent parathyroid carcinoma at an outside facility. Her elevated serum calcium had not responded to treatment with intravenous bisphosphonates, furosemide, or calcitonin. Calcimemetic therapy (Cinacalcet) was effective but had to be discontinued due to GI intolerance. She requested a second opinion at our center after being referred for palliative radiation therapy for presumed inoperable disease. On presentation, she remained symptomatic with bone and joint pain, diffuse abdominal pain and fatigue. Repeat technetium-99m sestamibi (Tc-99m sestamibi) scintigraphy showed a faint area of uptake near the right clavicular head, adjacent to the site of her previous resections. With the intraoperative guidance of a hand-held gamma probe, a 2 cm recurrent parathyroid carcinoma was located and successfully excised. Intraoperative PTH levels confirmed surgical cure of this previously undetected foci of disease. The use of radioguidance and intraoperative PTH monitoring were the keys to a successful resection, and our patient remains disease free with 17 months of follow-up.
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PMID:Radioguided parathyroidectomy for recurrent parathyroid cancer. 1745 61

Hypercalcemia is an uncommon cause of abdominal pain and may be overlooked in the Emergency Department. In this case report, we describe the case of a 48-year-old woman with a prior history of urolithiasis who presented to the Emergency Department with diffuse abdominal pain. She had taken Trichlormethiazide 1 mg daily for her urolithiasis. She was diagnosed with thiazide-related hypercalcemia; hyperparathyroidism and thyroid papillary carcinoma were unveiled during her hospitalization. A thorough history and complete physical examination, paired with appropriate but judicious diagnostic testing, are essential to detecting these unusual causes of abdominal pain.
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PMID:An unusual cause of abdominal pain: thiazide-related hypercalcemia in a patient with veiled hyperparathyroidism and thyroid papillary carcinoma. 1802 79

Peritoneal calcification is one of the complications of peritoneal dialysis (PD). It can become serious, leading to severe abdominal pain and even death. Possible mediators of peritoneal calcification in PD patients are assumed to include acetate buffer, overdosage of vitamin D, repeated peritonitis, hypertonic dialysate, calciphylaxis and secondary hyperparathyroidism (SHPT). However, the mechanism and treatment of peritoneal calcification are controversial. Few reports have appeared on improvement of peritoneal calcification after parathyroidectomy (PTX) for SHPT of long duration. We report herein the case of a 48-year-old man on dialysis for 17 years including PD for 14 years. In 1989, he was admitted to hospital because of end-stage renal disease (ESRD), and started treatment with PD. Abdominal computed tomography (CT) first showed peritoneal calcification in August 2002. Peritoneal calcification did not improve despite conventional treatment including discontinuation of PD, control of calcium phosphate product to less than 55 mg2/dl2, removal of the peritoneal catheter and empirical prednisolone (PSL) usage. The intact parathyroid hormone (i-PTH) level was increased over 1,000 pg/ml and extra-osseous calcification occurred. Total PTX was performed in November 2004. Postoperatively, the i-PTH level decreased immediately and calcium phosphate product was maintained in the reference range. Abdominal CT after PTX showed improvement of peritoneal calcification in September 2005. It appeared that PTX could be used to treat patients with persistent peritoneal calcification not responding to conventional treatment. It was postulated that SHPT might play a crucial role in accelerating peritoneal calcification in PD patients.
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PMID:Improvement of peritoneal calcification after parathyroidectomy in a peritoneal dialysis patient. 1821 18

Peritoneal calcification in three patients on continuous ambulatory peritoneal dialysis (CAPD) was reviewed, and the relation between the localization and extent of calcium deposits detected by abdominal computed tomography (CT) and clinical signs was evaluated. Case 1 was a 48-year-old man with abdominal pain, hemoperitoneum and secondary hyperparathyroidism after receiving CAPD for seven years. An abdominal CT revealed linear peritoneal calcification in the pelvic cavity and liver surface, and his symptoms resolved after switching to hemodialysis. His clinical course and pathological findings were compatible with those in progressive calcifying peritonitis. Case 2 was a 26-year-old man presenting with abdominal pain, vomiting and fullness two years after switching to hemodialysis, because of uncontrolled overhydration following 13 years of CAPD. Plaque-like calcification outlining the small intestine and parietal peritoneum was noted on CT. Case 3 was a 59-year-old man who had abdominal distention, vomiting and diarrhea three months after switching to hemodialysis due to loss of peritoneal function following 10 years of CAPD. CT revealed diffuse sheet-like calcification surrounding the bowel and mesentery, adherent dilated bowel loops and ascites. These CT findings suggested the existence of encapsulating peritoneal sclerosis (EPS) in cases 2 and 3. Findings from our three patients indicate that peritoneal calcification is not always accompanied by EPS; however, monitoring peritoneal calcification and other findings by abdominal CT, even after cessation of CAPD, is crucial to maintain vigilance on whether the subclinical signs, which are temporally diagnosed as progressive calcifying peritonitis, advance to EPS.
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PMID:Localization and extent of peritoneal calcification in three uremic patients on continuous ambulatory peritoneal dialysis. 1893 28

Celiac disease (nontropical sprue) is autoimmune disorder of the intestinal mucose, which usually develops in humans hypersensitive to gluten. The disease can occur at any age, with the greatest occurrence in early adulthood. Besides intestinal symptomatology--abdominal pain, diarrhoea and weight loss--celiac disease is often accompanied by extra-intestinal complications including osteopenia or osteoporosis and osteomalacia. Overproduction of cytokines IL-1 alpha, IL-1 beta and TNF-alpha increases bone resorption, which is further accelerated by hyperparathyroidism connected with malabsorption of calcium and vitamin D. Interaction of both these mechanisms activated bone loss. Similarly as the classic (symptomatic) celiac disease, the occult form, commonly seen in the elderly, may be associated with a risk of osteoporosis or osteomalacia related fractures. Diagnosis is based on positivity of IgA and IgG antigliadin and endomysial antibodies and characteristic endoscopic detection of inflammation and atrophy of duodenal mucose. Areal screening of celiac disease in osteoporotic patients is very dubious. However, a methodical examination should be performed in all patients with unexplainable hyperparathyroidism or in those with various autoimmune diseases (type 1 diabetes, thyroiditis chronica), or in premenopausal women and men, who did not reach the appropriate peak bone mass. On the other hand, detailed analysis of calcium metabolism, including markers of bone remodlling and X-ray densitometry (DXA), are recommended in all patients with verified celiac disease. The effectiveness of a gluten-free diet and substitution with vitamin D and calcium, or treatment with bisphosphonates are discussed. The promising therapy appears to be new molecules with reparative effect on intestinal mucose such as AT-1001.
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PMID:[Celiac disease and its relation to bone metabolism]. 1964 5

Most common causes of hypercalcemia are hyperparathyroidism, malignancy, vitamin D-mediated conditions such as sarcoidosis, and vitamin D toxicity. Less commonly, hypercalcemia can be caused by drugs such as thiazide diuretics and lithium. Mild hypercalcemia is usually asymptomatic but severe hypercalcemia is associated with nausea, vomiting, abdominal pain, excessive thirst, muscle weakness, lethargy, confusion, and fatigue. We are reporting a case of abdominal pain and altered mental status caused by thiazide-induced severe hypercalcemia of 19.8 mg/dL. This is the most severe case of thiazide-induced hypercalcemia that we have seen reported. Patients on thiazide diuretics should have their electrolytes frequently checked, especially patients on calcium supplements. Management usually includes hydration and discontinuation of drugs causing hypercalcemia.
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PMID:Thiazide-induced severe hypercalcemia: a case report and review of literature. 2006 44

Hyperparathyroidism is a rare finding in children. It is a typical sign of vitamin D-deficiency caused by different reasons. It may also be due to calcium wasting syndromes, and it can rarely be induced by adenomas of the parathyroid glands and in parathormone receptor mutations (pseudohyperparathyroidism). A 12-year old Gambian girl living in Hamburg, Germany, was developing abdominal and joint pain. Serum analysis revealed low serum-calcium, significantly elevated parathormone and decreased vitamin D. Immigrant rickets was assumed. Because of abdominal pain and iron deficiency, lambliasis was ruled out. Celiac disease was demonstrated by gliadin and endomysium antibodies as well as by intestinal mucosa biopsy. Despite of a gluten-free diet the joint pains persisted. They were declared by rheumatologists to be caused by a chronic juvenile arthritis (sister disease of celiac disease). However, there were no positive inflammation signals and no clear elevated rheuma-immunology. Follow up: Gluten-free diet and additional treatment with calcium and active vitamin D did not stop increasing parathormone levels, did not stop abdominal and joint pain, and did not stop increment of positive celiac disease antibodies. Assuming compliance problems the patient was then treated with vitamin D injections, which caused decreasing parathormone levels and vanishing joint pain. Celiac disease can cause intestinal rickets with elevated parathomone levels mimicking chronic juvenile arthritis, if gluten-free diet is not strictly performed by compliance problems.
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PMID:Hyperparathyroidism due to auto-immunological malabsorption in an African girl. 2161 78


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