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)

Abdominal pain is by far the most serious symptom in attacks of acute intermittent porphyria. Its cause is unknown. This case study suggests visceral ischaemia as a possible cause of the abdominal pain. A 31-year-old woman with recurrent bouts died during an attack; the autopsy revealed a 20-cm necrotic gangrene in the ileum. A protracted intestinal vasospasm could have been the immediate cause of death. It is discussed whether intestinal angina could be the cause of the abdominal pain in acute intermittent porphyria.
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PMID:Could attacks of abdominal pain in cases of acute intermittent porphyria be due to intestinal angina? 1076 59

In this 18 year old female patient with adolescent crisis, psychic regression and cyclic abdominal pain, the diagnosis of an acute intermittent porphyria was made by positive urine finding of porphobilinogen, by low serum measurement of the enzyme urosynthase and the positive genetic mutation of this enzyme. The article gives a brief report of the pathogenesis, clinical findings, diagnostic tests and the current therapies being undertaken. Further, a list of medications which are indicated or contraindicated relating to the patient with acute intermittent porphyria is noted.
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PMID:[Adolescent crisis with cyclic abdominal complaints and regressive behavior]. 1106 4

Abdominal pain is by far the most serious symptom in attacks of acute intermittent porphyria (AIP). Its cause is unknown. This case suggests visceral ischemia as a possible cause of the abdominal pain. A 31-year-old woman with recurrent bouts died during an attack; the autopsy revealed a 20 cm necrotic gangrene in the ileum. A protracted intestinal vasospasm could have been the immediate cause of death. The question as to whether intestinal angina could be the cause of abdominal pain in acute intermittent porphyria is discussed.
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PMID:[Unsatisfactory pain treatment in attacks of acute intermittent porphyria. Vasodilation an alternative if the pain is shown to be the pain of intestinal angina]. 1129 73

Reversible posterior leukoencephalopathy syndrome (PLS) is characterized by headache, altered mental function, visual disturbances and seizures. Neuroimaging studies suggest a white-matter oedema, predominantly in the posterior parietal-temporal-occipital regions of the brain. We present the case of a 30-year-old woman who had suffered her first attack of acute intermittent porphyria (AIP). Following 1 week of abdominal pain she developed several generalized seizures, and hallucinations, and exhibited a progressive deterioration of the consciousness. T2-weighted images, especially fluid-attenuated inversion recovery (FLAIR) sequences showed bilateral lesions in the posterior frontal, parietal and occipital cortex and subcortical white matter. Following treatment with haematin and a high carbohydrate diet the patient's condition improved. Follow-up magnetic resonance imaging (MRI) revealed complete resolution of the lesions. To our knowledge, this is the first report concerning a completely reversible PLS in AIP.
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PMID:MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome. 1179 44

5-Aminolevulinic acid (ALA) is a heme precursor that accumulates in acute intermittent porphyria (AIP) due to enzymatic deficiencies in the heme biosynthetic pathway Its accumulation has been associated with several symptoms, such as abdominal pain attacks, neuromuscular weaknesses, neuropsychiatric alterations and increased hepatocellular carcinoma (HCC) incidence. The use of exogenous ALA to elevate porphyrin levels in tumor photodynamic therapy, adds further significance to ALA toxicology. Under ferritin mediated and metal catalyzed oxidation, ALA produces reactive oxygen species that can damage plasmid and isolated DNA in vitro, and increases the steady-state level of 8-oxo-7,8-dihydro-2'-deoxyguanosine in liver, spleen and kidney DNA and 5-hydroxy-2'-deoxycytidine in liver DNA of ALA-treated rats. The in vitro DNA damage could be partially inhibited by SOD, catalase, DTPA, mannitol and melatonin. ALA also promotes the formation of radical-induced base degradation products in isolated DNA. 4,5-Dioxovaleric acid, the final oxidation product of ALA, alkylates guanine moieties within both nucleoside and isolated DNA, producing two diastereoisomeric adducts. Dihydropyrazine derivatives of ALA generated by its dimerization, promote DNA strand-breaks and 8-oxodGuo formation in the presence of Cu2+. Together these results reinforce the hypothesis that the DNA damage induced by ALA may be associated with the development of HCC in individuals suffering from AIP.
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PMID:Is 5-aminolevulinic acid involved in the hepatocellular carcinogenesis of acute intermittent porphyria? 1193 Sep 45

Acute intermittent porphyria is a metabolic error transmitted as an autosomal dominant disorder with incomplete penetrance. Its clinical picture includes intermittent abdominal pain, nausea, vomiting, and diarrhea, with or without neurological changes. We report the case of a young woman whose pain attacks were controlled with high-dose opiates, in whom we decided to perform endosonography-guided celiac plexus neurolysis (EUS-CPN). This is the first reported attempt with this new treatment option. There was significant clinical and nutritional improvement after treatment.
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PMID:Endosonography-guided celiac plexus neurolysis in the treatment of pain secondary to acute intermittent porphyria. 1193 94

A fatal case of acute intermittent porphyria in a 22 years old Indian male is reported. He presented with abdominal pain and constipation, subsequently developed status epilepticus, acute respiratory failure and quadriparesis. He succumbed to the illness on the twelfth day. Among the neuromuscular causes of acute respiratory failure, requiring ventilatory support, porphyria is a condition potentially treatable, but rarely suspected.
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PMID:Acute intermittent porphyria as a cause of acute respiratory failure. 1220 44

We report a case of acute intermittent porphyria (AIP) in a 45-year-old woman. Her first attack occurred at the age of 38. Because of escalating cyclical premenstrual attacks, the following 2 years, depletion of the endogenous sex hormone was considered as haeme arginate treatment proved insufficient. Gonadotropin releasing hormone agonist treatment with low-dose oestradiol add back was quite successful initially but was abandoned after 18 months when progesterone add back precipitated a severe attack. Following hysterectomy and oophorectomy at age 42 and oestradiol add back, a remarkable monthly regularity of attacks ensured periodically but with milder symptoms. Two years after surgery, preceded by six attack-free months, a puzzling symptom-shift occurred, from abdominal pain, back and thigh pain during the attacks, to solely severe distal extensor paresis in the arms. Haeme arginate treatment interrupted the progress of the paresis almost immediately and motor function improved considerably up to the 9-month follow-up. Electrophysiological examination revealed only motor neuropathy, consistent with axonal degeneration. Subsequently the symptoms changed yet again, to sensory disturbances with numbness and dysesthesia as the primary expression followed by rather mild abdominal pain. However, cyclical attacks occurred, despite absence of endogenous ovarial hormone production, possibly attributable to impaired oestrogen metabolism in the liver, or adrenal oestrogen production. Treatment comprising oophorectomy, low-dose oestradiol add back and haeme arginate infusion for 2 days on the appearance of early AIP symptoms is now quite successful affording improvement in life quality.
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PMID:Atypical attack of acute intermittent porphyria--paresis but no abdominal pain. 1227 8

Acute porphyrias are caused by the inherited decreased activity of the enzymes of the heme biosynthesis pathway. Depending on the affected enzyme there are 4 types of them: acute intermittent porphyria, porphyria variegata, coproporphyria and delta-aminolevulinic acid dehydratase deficient porphyria, listed in order of their frequency. Basically the clinical picture is the same in the four types of acute porphyria. The most frequent complaints and symptoms are: cramping abdominal pain, nausea, vomiting, muscle weakness of the limbs then, in the advanced phase, there is a red-colored urine, hyponatremia, subileus, acute psychosis and Landry-type paralysis. Without proper treatment death is caused by respiratory paralysis or serious arrhythmia. In case of suspicion of acute porphyria it is mandatory to identify the type of the acute porphyria and the actual status of the patient. The later indicates what kind of treatment should be used. In the acute phase the early therapy with heme arginate is the treatment of choice. Since the clinical symptoms are precipitated by endogenous or exogenous inducing factors--most often by drugs-, the drugs negatively affecting the heme biosynthesis should be omitted at once even in the suspicion of acute porphyria. The role of the inducing factors in the manifestation of the clinical symptoms makes possible the prevention. It is possible to avoid the inducing factors and this way to prevent the acute attack if the acute porphyrias are recognized in time and the patients and the carriers are under regular control. The patients receive special identification card and the up-to-date list of safe drugs. They can use only these drugs in any kind of illness. Other drugs should be considered as porphyrinogenic since it is impossible to predict based on their chemical structure if they negatively affect the heme biosynthesis.
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PMID:[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. 1280 70

Acute intermittent porphyria (AIP), an inborn error of metabolism, results from the deficient activity of the third enzyme in the heme biosynthetic pathway, porphobilinogen deaminase (PBGD). Clinical symptoms of this autosomal dominant hepatic porphyria include episodic acute attacks of abdominal pain, neuropathy, and psychiatric disturbances. Current therapy based on intravenous heme administration is palliative and there is no way to prevent the attacks. Thus, efforts are focused on methods to replace the deficient activity in the liver to prevent the acute attacks of this hepatic porphyria. Here we explore the efficiency of a non-viral gene delivery to obtain PBGD expression in the liver of AIP transgenic mice. Four vectors were evaluated: naked DNA and DNA complexed to liposomes, polyethylenimine (PEI), and PEI-galactose, using a luciferase construct as reporter gene. The vectors were administered intravenously or directly into the portal vein with transient blood flow blockage. After tail vein injection of the DNA complexes, the liposome vector had the highest luciferase expression in lung and less in liver. When injected into the portal vein, the naked DNA had considerably higher hepatic reporter gene expression; 100 microg of naked DNA had the highest hepatic luciferase expression 24h after portal vein injection. When these vectors were used to deliver the PBGD gene into the AIP mouse model no enhancement of the endogenous PBGD activity in liver was detectable, despite the presence of the PBGD-plasmids as verified by PCR. Thus, more efficient non-viral vectors are needed to express sufficient PBGD activity over the endogenous hepatic level (approximately 30% of normal) in this murine system.
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PMID:Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria. 1511 Mar 17


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