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 case is described, that came to our attention for suspected acute intermittent porphyria, with abdominal pain and ascending tetraplegia. The patient (HIV positive and with a HBsAg positive chronic aggressive hepatitis) was a heroin addict. In urine: high porphyrins with extremely increased delta amino-levulinic acid (ALA) and normal porphobilinogen. High protoporphyrin was present in blood red cells. The lead poisoning was confirmed by a very low ALA-dehydratase activity in erythrocytes and a high content of lead in urine and plasma. With Ca-versenate and penicillamine the abdominal and neurological symptoms rapidly disappeared. The possibility of contact with lead, professional or environmental, was ruled out. It was found however, that shortly before the appearance of symptoms, the patient had used a batch of unrefined brown sugar heroin, which was probably mixed with lead salts. It is noteworthy that during the same period, other young heroin addicts died with similar symptoms.
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PMID:[An unusual mechanism of lead poisoning. Presentation of a case]. 274 Jun 2

Acute intermittent porphyria is a genetic hepatic porphyria characterized by acute gastrointestinal and neurological symptoms, and accompanied by excess excretion of delta-aminolevulinic acid and porphobilinogen. Here, we report a case of acute intermittent porphyria with attacks of abdominal pain, an elevated serum thyroxine level, and hypercholesterolemia with an increased level of high-density lipoprotein-cholesterol concentration. The diagnosis of acute intermittent porphyria was confirmed by a high urinary excretion of porphobilinogen and a low level of erythrocyte hydroxymethylbilane synthase activity. After being treated with a high carbohydrate intake and propranolol, the patient improved gradually during the following 3 weeks. The patient remained asymptomatic during the 6-month follow-up period. The serum thyroxin and cholesterol levels returned to normal 6 months later. In conclusion, we suggest that for any patient who presents with unexplained abdominal pain, abnormal thyroid function and hypercholesterolemia, a simple Watson-Schwartz urine test should be performed for the screening of acute intermittent porphyria. If the Watson-Schwartz test is positive, the erythrocyte hydroxymethylbilane synthase activity should be determined to confirm the diagnosis of acute intermittent porphyria.
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PMID:Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria. 280 66

The effectiveness of 2 hematins administered by intravenous infusion was compared in acute intermittent porphyria. Judging from subjective symptoms (abdominal pain), clinical improvement was complete and constant. There was a rapid decrease in urinary excretion of porphyrins precursors, with a clearer response of delta-aminolevulinic acid than of porphobilinogen. Urine levels of uroporphyrin often returned to normal after two infusions. The drugs were very well tolerated. Provided it is administered early, before neurological complications develop, treatment with hematin completely relieves abdominal symptoms and suppresses most of the biochemical changes associated with hepatic porphyria.
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PMID:[Acute attacks of hepatic porphyria. Treatment with hematin. 5 cases]. 294 13

Acute intermittent porphyria (AIP) presenting as acute confusional state without the classical features of recurrent abdominal pain, constipation, vomiting is uncommon. Such presentation in a young Malay man after a mild upper respiratory tract infection is reported. This is the first case of AIP with psychiatric symptomatology to be reported locally. The subsequent neuropsychiatric changes and interesting EEG changes are briefly discussed.
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PMID:Acute intermittent porphyria (AIP)--an unusual cause of acute confusional state. A case report. 321 37

The porphyrias can be grouped conveniently by their presenting symptoms. Acute intermittent neurological symptoms of neuritis, abdominal pain and psychoses may occur in acute intermittent porphyria, hereditary coproporphyria and variegata porphyria. Increase of the porphyrin precursors delta-aminolaevulinic acid and porphobilinogen may be observed in the urine during attacks (Watson-Schwartz test). Patients with acute symptoms of photosensitivity with burning pain and oedema within short exposure periods may have erythropoietic protoporphyria, with high erythrocyte and stool protoporphyrins, erythropoietic coproporphyria, and in the last few years of life the more recently described hepatoerythropoietic porphyria. Symptoms of chronic photosensitivity include; hyperpigmentation, hypertrichosis, easy fragility of the skin with bullae and subsequent scarring in porphyria cutanea tarda (PCT), with increased uroporphyrin in the urine and stool; variegate porphyria with increased protoporphyrin and coproporphyrin in the stool; congenital erythropoietic porphyria with an increased copro- and uroporphyrin (isomer I) in the erythrocytes, urine and stool; and hepatoerythropoietic porphyria in later life, in which the chronic features are similar to PCT. In 1913 Meyer-Betz injected himself with 200 mg haematoporphyrin. Initially, at the higher levels, the symptoms were those of solar urticaria as observed in erythropoietic porphyria, but after several months became identical to PCT. A comparison of quantitative porphyrin analysis (performed on 323 patients with porphyria) and chromatography provides additional confirmation for the diagnosis.
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PMID:Porphyria: genetic and acquired. 329 37

A case of acute intermittent porphyria in a 10-year-old boy with seizures and hypercholesterolemia is presented. The problems of management when seizures and porphyria coincide and discussion of hypercholesterolemia are included. A comprehensive review of the world literature reveals that prepubertal patients with acute intermittent porphyria are predominantly male and show an increased incidence of seizures when compared to older age groups. The principal clinical features in all age groups include abdominal pain, vomiting, fever, and tachycardia in addition to mental changes, limb paresis, and hyporeflexia.
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PMID:Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: a case report and review of the literature. 359 6

Acute intermittent porphyria is one of three severe hepatic porphyrias. Clinical manifestations include intermittent acute attacks of abdominal pain and neuropathy with an occasionally outcome. These attacks are often precipitated by endogenous (menstrual cycle and pregnancy in women) or exogenous factors (porphyrinogenic drugs). An epidural analgesia was performed during the labour of a pregnant woman with acute intermittent porphyria just after an acute attack of abdominal pain. Analgesia was obtained using procaine and fentanyl. The choice of drugs was based on available clinical reports and experimental studies of the porphyrinogenicity of drugs in animal models (rat in vivo and chick embryo in ovo).
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PMID:[Peridural anesthesia with procaine and fentanyl in a parturient with acute intermittent porphyria]. 377 77

Metabolic disorders which may mimicry a surgical abdomen are ketoacidosis, acute intermittent porphyria, hyperparathyroid crises, Addisons crises, hyperchylomicronemia, hemolytic crises, abdominal crises in hemochromatosis. Abdominal pain of non-surgical and non-inflammatory origin may be also found in abdominal allergic crises, intestinal wall bleeding due to anticoagulants, thrombocytopenia or acute poisoning. The symptoms may be very similar to those in surgical peritonitis. A careful work-up leads to the right diagnosis.
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PMID:[Abdominal pain in metabolic diseases]. 380 85

In four young adult patients with acute attacks of acute intermittent porphyria tachycardia and hypertension were prominent features of the illness. Urinary catecholamine excretion was increased in both patients in whom it was measured. The effect of the beta-adrenergic blocking drug propranolol was assessed in each case. The dose varied from 40 to 240 mg daily. A response in the form of a reduction in heart rate and blood pressure was noted in each case, and in one case a marked alleviation of abdominal pain followed administration of the drug.Propranolol, when given in high dosage to rats, did not induce an increase in hepatic delta-aminolaevulic acid synthetase, an enzyme which is raised in human and drug-induced animal porphyria. The use of propranolol is therefore unlikely to aggravate or precipitate an attack of acute intermittent porphyria.
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PMID:Acute intermittent porphyria: response of tachycardia and hypertension to propranolol. 472 62

Hereditary neuropathy with liability to pressure palsies (NLPP) is a rare disease characterized by recurrent sensory-motor deficits precipitated by exposure to minor pressure. This report describes a variant of this neuropathy in 5 siblings suffering from painful palsies after strenuous work with concurrent episodes of abdominal colic resembling that of acute intermittent porphyria. Electrophysiological studies of the index case showed the typical abnormalities of motor and sensory nerve conduction, including clinically non-affected nerves. Light and electron-microscopic examination showed the characteristic lesions of the NLPP with sausage-like swelling of the myelin sheaths. In addition, non-compacted, "loose" myelin lamellae were frequently observed in association with distended Schmidt-Lantermann incisures. Non-compacted myelin was a prominent finding in this type of demyelinating neuropathy. We suggest that an unknown metabolic factor may induce both demyelination of peripheral nerve fibers and functional disturbance in autonomic nerves leading to attacks of abdominal pain.
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PMID:Multiple exercise-related mononeuropathy with abdominal colic. 631 66


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