Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We evaluated the prognosis of acute porphyria among 206 adult Finnish patients with acute intermittent porphyria (AIP) or variegate porphyria (VP). The series represents all known patients with these porphyrias in Finland. Of the 47 patients who had a total of 117 acute attacks during the period 1967-1989, 6 died during an attack and 21 attacks were associated with paresis; the frequency of severe attacks was significantly smaller than before 1967 (p = 0.00002). Most pareses and deaths occurred because of a delay in diagnosis and inappropriate treatment of porphyria. For those patients who were symptom-free at the time of diagnosis (1365 follow-up years), the risk of the first subsequent attack was significantly smaller than for those who had had an acute attack before the diagnosis of porphyria (1047 follow-up years, p = 0.005). In addition, milder symptoms of porphyria were more common among those who had had previous attacks than among those who had not (p less than 0.00001). In AIP the risk of attacks correlated with the excretion of porphobilinogen in the urine during remission among adults (p = 0.03); a low rate of excretion predicted freedom from acute attacks. A regular use of many precipitating drugs was never associated with symptoms of porphyria. Two percent of the surgical operations and 4% of the pregnancies were associated with acute attacks. Nearly one-third of the women had symptoms of porphyria associated with the menstrual cycle, but these seldom proceeded to an acute attack. Forty-six percent of the women had used sex-hormone preparations regularly; 2 of them (4.5%) experienced associated acute attacks. Patients with AIP or VP showed increased incidences of hepatocellular carcinoma, and probably also chronic renal failure and hypertension.
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PMID:Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. 154 56

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

A 70-year old man with acute intermittent porphyria had acute transient bibrachial paresis with moderate contracture of the involved muscles, which showed electrical silence in a conventional electromyographic investigation with surface electrodes placed over the contracted muscle belly (filter: 20 Hz-2 Hz, amplifier 50 microV). Slow finger movements were still possible and showed typical muscle-action potentials. This electroclinical correlation points to myopathic localized dysfunction, perhaps similar to rare case reports with patients having metabolic myopathy of McArdle's type.
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PMID:[Acute intermittent porphyria with transient paresis and contracture. Evidence for initial myopathic dysfunction?]. 955 64

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

Neurologic disorders represent the most severe complications of acute intermittent porphyria (AIP). Cognitive disturbances, bulbar and spinal weakness appear as the most critical neurological complications as they may lead to death or definitive motor weakness. A 38-year-old woman was admitted for an acute and painful tetra paresis occurring after a laparoscopy for an ovarian cyst. She also complained of abdominal pain treated with noramidopyrine, tachycardia, hypertension and hyponatremia. The electrophysiological examination showed a motor axonal neuropathy. The increase of Urine ALA at 268 micromol/l (N<38) and of at 235 micromol/l (N<5) strongly suggested AIP that was further confirmed by PBG desaminase deficiency in red cells. Thanks to the prescription of heme arginate (HA) at the dose of 3 mg/kg/day for 4 days, pain resolved immediately and motor function began to improve since the second day of treatment concurrently to a dramatic decrease of both urine ALA and PBG concentrations. Motor recovery was complete after 12 months of evolution. This case illustrates the potential severity of acute porphyric neuropathy when precipitating factors (noramidopyrine, surgery) are present in previously undiagnosed AIP. Moreover, motor neuronal function improved while HA therapy was initiated 22 days after the clinical onset of weakness. This tempts us to propose HA therapy at any stage of acute porphyric neuropathy.
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PMID:[Favorable outcome of acute porphyric neuropathy after treatment with heme arginate]. 1803 50

Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by partial deficiency of hydroxymethylbilane synthase (HMBS) affecting heme biosynthesis. Patients with AIP are characterized by recurrent abdominal pain, port-wine urine, and motor paresis. The disease can be provoked by changes in hormone levels, drugs and fasting. Molecular analysis for twenty-four unrelated Chinese AIP patients from Taiwan identified twenty-five HMBS mutations. There were 10 missense (40%), four nonsense (16%), five frame-shift (20%) and six splice site (24%) mutations. More than a half (15/25, 60%) of these mutations are predicted to produce a truncated protein. Four (c.33 + 5C>A, Arg26Cys, Arg26His, Arg325X) occurred more than once among the 24 families and one individual carried two mutations in the same allele, a missense (Gly221Asp) and a splice site mutation (c.652-1G>A). Of the 25 mutations, eleven were novel (Arg149Pro, Gly218Arg, Asn322X, Gly221Asp, Pro313X, c.88-4_-16delAAGTCTCTACCCG, c.1008_1019delCAGCCTGGCCAA, c.113delT, c.88-4_-16delAAGTCTCTACCCGinsCA, c.160delA, c.902_909delTCCCTGCC). No correlation between genetic defect and phenotype (both clinical and biochemical) was observed in this study.
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PMID:HMBS mutations in Chinese patients with acute intermittent porphyria. 1862 69

Acute intermittent porphyria (AIP), the most common and the most severe form of acute hepatic porphyria, is an autosomal dominant condition. It results from lower-than-normal levels (less than 50%) of porphobilinogen (PBG) deaminase. Patients may present commonly with gastrointestinal complaints and neuropsychiatric manifestations. Diagnosis may be confirmed with the presence of intermediary metabolites of haem synthesis, amino levulinic acid (ALA) and PBG in urine or with specific enzyme assays. Abdominal pain is the most common symptom (90%). Peripheral polyneuropathy, primarily motor with flaccid paresis of proximal musculature, with or without autonomic involvement, is characteristic. Respiratory failure necessitates ventilator and intensive care support. Avoidance of precipitating factors and the use of haem preparations and intravenous dextrose form the basis of management. Gabapentin and propofol, rather than the conventional antiepileptics appear to be the appropriate choice for seizure control. Here, we present intensive care management of four cases of AIP with varying clinical presentation.
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PMID:Intensive care management of patients with acute intermittent porphyria: Clinical report of four cases and review of literature. 2085 93

Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and preparedness for reintubation and ventilatory support. The classical signs of a porphyric crisis such as pain abdomen, vomiting and neuropsychiatric symptoms are masked under general anesthesia and can be confused with postoperative pain and vomiting and postoperative cognitive dysfunction, especially for intra-abdominal surgeries. Eternal vigilance for onset of an acute crisis is imperative. After a crisis of acute intermittent porphyria, residual paresis may persist for years in the absence of further attacks.
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PMID:Anesthesia for hemicolectomy in a known porphyric with cecal malignancy. 2555 4

BACKGROUND Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder that is part of a group of acute porphyria disorders usually found in females of reproductive age. Although clinically there is low penetrance, with 90% of genetically diagnosed individuals never experiencing an acute flair, consequences of acute flairs may lead to devastating results. Debilitating paresis, seizures, respiratory failure, and even death may result from AIP. Early detection is key in preventing these devastating manifestations. CASE REPORT A 67-year-old Hispanic man with a past medical history of pulmonary Coccidioides on fluconazole presented with bilateral thigh pain for 2 days. At baseline, the patient had no limitations, but now was limited to minimal walking due to his thigh pain subsequently progressing to diffuse weakness after the administration of IV Solumedrol. Over the next few months, EMG was notable for acute-on-chronic sensorimotor axonal denervation in upper and lower extremities, without evidence of myositis. Urine porphobilinogen was 58 mmol/L, which is 29 times the upper limit of normal. Treatment was started with hemin 4 mg/kg/day for 4 days. CONCLUSIONS Over our patient's clinical course, he was affected by a severe manifestation of repeated acute porphyria attacks, which started as anterior thigh pain and progressed to diffused weakness disproportionally affecting the muscles of the upper extremities. Although the patient was in his late 60's at the initial onset of AIP, his diffuse Coccidioides infection, use of azoles, and steroids likely contributed to his first AIP attack.
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PMID:Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria. 3153 Jul 95