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)

Cyclic neutropenia is an hereditary disorder of white blood cells, characterized by profound neutropenic episodes approximately every three weeks. Septic complications are usually limited to cutaneous and oropharyngeal infections. A 4-year-old boy with known cyclic neutropenia was in shock with neutropenia, clostridial septicemia, and right lower quadrant peritonitis when he was admitted. At the time of laparotomy, inflammation of the cecum, with no gross perforation, was found; no resection or appendectomy was done. He subsequently developed a right lower quadrant abscess that was drained, resulting in a colocutaneous fistula. For the next 8 months his fistula persisted, with intermittent episodes of fever, increased fistula output, and abdominal pain during his neutropenic periods. Standard nonoperative approaches to healing the fistula failed (ie, elemental feeds, total parenteral nutrition, irrigations, antibiotics, and drains). Attempts to medically abolish his neutropenic episodes using lithium, gammaglobulin, and steroids also failed. Ultimately, he underwent an ileocecal resection with primary anastamosis; the operation was done immediately following a neutropenic episode, in order to allow adequate healing of his anastamosis before his next period of neutropenia. Postoperative course was satisfactory, and he remains well after 8 months follow-up. This case, and several similar previously reported cases, illustrate that cyclic neutropenia may present with serious surgical complications. They also underlines the important role that neutrophils play in the healing of enteric fistulae.
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PMID:Cyclic neutropenia with colonic perforation and nonhealing colocutaneous fistula. 231 7

Careful interpretation of the vascular pathology is important in cases of intestinal ischemia caused by primary mesenteric vein thrombosis because it suggests antithrombin III (AT III) deficiency. This deficiency, an autosomal dominant hereditary disorder, predisposes the patient to venous thrombosis. Similar or acquired deficiencies may also predispose the patient to thrombosis. In hereditary AT III deficiency, 90% of the cases have thrombosis of the leg or iliac veins; 8.3% of the cases, thrombosis of the mesenteric veins. Additionally, some families have a tendency to develop mesenteric vein thrombosis specifically. In this case report, a daughter with probable AT III deficiency had a history of 3 episodes of deep vein thrombosis in the previous 5 years while taking oral contraceptives. Her father, with the same deficiency, died from massive intestinal infarction resulting from portal and mesenteric vein thrombosis. The 19-year old woman developed gradually worsening abdominal pain, signs of peritonitis, and hematemesis. A laparotomy revealed peritonitis that was due to segmental small-bowel infarction; the underlying pathologic condition was mesenteric vein thrombosis. Coagulation study results revealed AT III activity by chromogenic assay, 0.48 u/mL; AT III antigen, 0.5 u/mL; and protein C antigen, 1.15 u/mL. 10 days after discharge, she developed a hemicranial headache with nausea, vomiting, neck tenderness, and photophobia; she was readmitted. A CT scan showed a left posterior parietal cerebral infarct. Repeat AT III activity by chromogenic assay was 0.51 u/mL and AT III antigen level was 0.50 u/mL. Before anticoagulant therapy could be initiated, the patient died 7 days after readmission. The combined lowering of AT III activity and antigen levels to half of normal suggests AT III deficiency. Earlier diagnosis of this deficiency could have been made in light of the patient's own history of thrombosis and the paternal history.
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PMID:Mesenteric venous thrombosis due to antithrombin III deficiency. 333 17

Alpha 1-antitrypsin deficiency is a genetic disorder commonly associated with pulmonary and hepatic injury. Low serum levels of this glycoprotein result in an imbalance between circulating protease and protease inhibitors, which is thought to play a role in the development of emphysema. In recent studies, a protease-to-protease inhibitor imbalance in patients with alpha 1-antitrypsin deficiency was thought to be a mechanism contributing to the development of chronic pancreatitis. The heterozygous phenotype and low levels of this glycoprotein have been reported to occur more frequently in patients with chronic pancreatitis than in healthy controls. We report a patient with Pi-SS phenotype alpha 1-antitrypsin deficiency and chronic pancreatitis complicated by recurrent pancreatic pseudocysts and chronic abdominal pain. Our case supports the association between chronic pancreatitis and alpha 1-antitrypsin deficiency. Furthermore, this case provides support for the use of pancreatic stent drainage in the management of intractable abdominal pain in patients with chronic pancreatitis and a dominant stricture.
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PMID:Alpha 1-antitrypsin deficiency and chronic pancreatitis. 861 34

Diseases of the skin and the gastrointestinal tract may occur together. It is important to examine the skin of everyone showing a gastrointestinal problem. Gastrointestinal signs and symptoms in dermatologic diseases may occur with dysphagia, abdominal pain, gastrointestinal bleeding and diarrhea with or without malabsorption. In general the cause is found in a genetic disorder, or it is infectious, drug-induced, inflammatory or related to a malignant disorder. Polyposis are hamartomatous tumors or result as an inflammatory reaction. All these syndromes may present with cutaneous lesions. As malignant degeneration of polyps often develops, the early diagnosis and preventive treatment is crucial. Inflammatory bowel disease is often associated with skin complications such as pyoderma gangrenosum and erythema nodosum. Malignant disorders in the gut may metastasize into the skin or may produce rather typical paraneoplastic changes.
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PMID:[Skin symptoms in gastrointestinal diseases]. 775 66

Protoporphyria is a genetic disorder characterized by a defect in the enzyme ferrochelatase, which catalyzes the chelation of iron to protoporphyrin. This causes excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity. Progressive and fatal liver disease occurs in a small percentage of cases. We report our experience with eight patients with end-stage protoporphyric liver disease in whom a syndrome developed before transplantation that resembled the neurological crises of the acute porphyrias. This syndrome was characterized by abdominal pain, hypertension, tachycardia, extremity pain and weakness, constipation and nausea and vomiting. Erythrocyte and serum protoporphyrin levels were markedly increased in all patients. In one patient, profound hemolysis developed during the anhepatic phase of transplantation and continued over a period of 72 hr, causing an extreme increase in the serum protoporphyrin level. Progressive weakness deteriorated to paralysis in this patient. This phenomenon suggests that protoporphyrin may gain access to neural tissue when serum levels are markedly increased, causing neurotoxicity.
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PMID:Evidence for neurological dysfunction in end-stage protoporphyric liver disease. 798 71

We describe a pediatric patient with dyskeratosis congenita, whose symptoms included abdominal pain, vomiting, dysphagia, and hematochezia. Gastrointestinal symptom are prominent in this rare genetic disorder.
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PMID:Gastrointestinal problems in a child with dyskeratosis congenita. 865 Nov 92

Hereditary angioedema (HAE) is a hereditary disorder (deficiency of C1 esterase inhibitor) with spontaneous cutaneous and subcutaneous edemas, which involve the gastrointestinal tract in 50 - 75 %. Recurrent abdominal pain attacks in younger patients with an ultrasonographic evidence of aszites (up to 1 - 2 litres are frequent), should always let think of a HAE. Additionally in one female patient we found pleural effusion repeatedly during the episodes. HAE typically shows segments of GI-tract with a marked wall thickening. In our patients stomach (2 x), small bowel (2 x) and colon (1 x) were involved. Obstruction of the lumen by the edema may cause vomiting or ileus. By means of high-resolution sonography we could show for the first time that only mucosal and submucosal layer were affected, the L. muscularis propria was preserved. Characteristic was a hypoechoic thickening of the interior layers of the wall: In one patient we found anechoic lacunae within the mucosal layer, probably corresponding to a bullous edema. An accurate ultrasonic examination enables a reliable judgement of the severity level of HAE. It can contribute in this way to the decision whether the application of C1-INH-concentrate is necessary or not.
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PMID:[Sonography in hereditary angioedema: typical findings demonstrated by the example of 3 cases]. 1152 98

Familial Mediterranean fever (FMF) is a genetic disorder characterized by acute episodes of fever with some combination of severe abdominal pain, pleurisy, arthritis, and skin rash. The case of a patient with recurrent urticaria referred for study of drug allergy is presented. After allergy had been ruled out, the urticaria was attributed to previously undiagnosed symptoms of an underlying systemic disease: FME. Urticaria is the least frequent cutaneous manifestation of this disease, and genetic analysis was required to confirm the diagnosis.
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PMID:Recurrent urticaria as a rare manifestation of familial Mediterranean fever. 1210 34

Iron overload in body tissues can cause complications such as cirrhosis, cardiomyopathy, diabetes, hypogonadism and arthritis. In populations of northern European descent, most iron overload is due to hereditary haemochromatosis (HHC), a genetic condition that causes increased iron absorption. HHC can be treated or prevented by regular phlebotomy treatments. Some experts have called for population screening for HHC, so that early phlebotomy treatment can be initiated. Two screening tests are available: measurement of the serum iron transferrin saturation (Tf%) and genetic testing for HFE mutations. However, both methods have low positive predictive values. Current data suggest that most people at risk are unlikely to develop clinical symptoms and that the population prevalence of clinical complications of HHC is low, arguing against population screening. Two other prevention strategies are available. (1) Health provider education, to heighten awareness of HHC as an explanation for symptoms and signs seen in early iron overload including unexplained fatigue, joint pain, palpitations, abdominal pain, elevated liver function tests, hepatomegaly and elevated serum ferritin. (2) Family-based testing after a diagnosis of HHC, to ensure that relatives are evaluated for evidence of iron overload. More research is also needed to identify the factors that increase risk for disease in persons with excess iron uptake, to determine whether moderate iron overload is a health risk and to evaluate the causes of iron overload other than HHC.
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PMID:Hereditary haemochromatosis: a realistic approach to prevention of iron overload disease in the population. 1240 10

A 20-year-old woman with a four-week history of dysphagia, weight loss of four kilograms and unspecific abdominal pain was admitted because of sudden haematemesis. The physical examination showed a patient with a prominent kyphoskoliosis. The patient reported of having a situs inversus abdominalis and a tethered cord syndrome. Bladder function disorders were present since childhood. Upper endoscopy demonstrated a 4 cm large, exophytically growing necrotic tumour of the oesophagus. The CT scan showed a space occupying tumour of the oesophagus and metastases in a size of 1.5 cm in both lungs. Further imaging revealed a UICC-Stadium IVB (T2NxMIb ). Histology of the tumour biopsies showed a poor differentiated squamous cell carcinoma. Staging after the 6 th dose cisplatin (100 mg/m2/die) and 5-fluorouracil (5 x 1000 mg/m2/die) showed a mild reduction of the tumour and the metastases. The patient died ten months later of multiorgan failure after severe progress of tumour and metastatic growth. The manifestation of squamous cell carcinoma of the oesophagus is unusual in people at the age of twenty. Genetic and chromosomal analysis of the patient gave no evidence for a hereditary disorder. Drug history revealed that the patient had been treated with the alpha-receptor blocking drug phenoxybenzamine over at least 12 years for bladder dysfunction. Animal experiments of rats with exposition of phenoxybenzamine over 24 months produced gastrointestinal malignomas. By the German admission board phenoxybenzamine is only recommended for short term therapy. It seems to be likely that even in humans phenoxybenzamine acts as a mutagenic substance and should be carefully used in long-term treatment.
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PMID:[Haematemesis and dysphagia in a 20-year-old woman with congenital spine malformation and situs inversus partialis]. 1269 37


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