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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four types of hepatic porphyria (acute intermittent porphyria; hereditary coprophorphyria; variegate porphyria; delta-aminolevulinate dehydratase deficiency porphyria) present clinically with an identical neurological syndrome. Symptoms include severe abdominal pain, vomiting, constipation, hypertension, tachycardia, and bladder dysfunction. These symptoms have been ascribed to autonomic neuropathy. Other symptoms are motor weakness and sensory involvement, which correlate with peripheral axonal neuropathy, and mental symptoms occurring without clear morphological findings in the cerebrum. The pathogenetic mechanisms which lead to the neurological dysfunction have remained poorly understood, partly due to the lack of a suitable animal model of these rare disorders. Two hypotheses, the possible neurotoxicity of delta-aminolevulinate (ALA) and heme deficiency in nervous tissue are discussed and corresponding data from porphobilinogen-deaminase deficient mice are presented. The present evidence suggests that multiple mechanisms interact in causing the varied symptoms, including ALA interaction with GABA receptors, altered tryptophan metabolism, and possibly heme depletion in nerve cells.
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PMID:Acute porphyrias: pathogenesis of neurological manifestations. 951 77

Three hepatic porphyrias--acute intermittent porphyria, hereditary coproporphyria and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as abdominal pain, vomiting, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors. Peripheral neuropathy is manifested as pain in the extremities, and it may progress to a severe motor neuropathy. Measurement of porphobilinogen in the urine gives a prompt diagnosis during acute attacks. Attacks are often induced by precipitating factors such as drugs, alcohol, infection, fasting or changes in sex-hormone balance, and they should be eliminated when a patient is treated during an attack. Heme, the end biosynthetic product, is the most effective therapy for restoration of porphyrin biosynthesis to normal, and it is usually infused at 3 mg/kg daily for 4 days. Adequate calories are necessary and parenteral nutrition with carbohydrates may be necessary. Attacks may also require therapy for hypertension, pain and epileptic seizures. Strict avoidance of all precipitating factors may not be necessary in the asymptomatic phase.
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PMID:Management of the acute porphyrias. 963 23

Hypertension is a rare complication of acute intermittent porphyria (AIP) and is related to the sympathetic over-activity seen in this condition. We report a patient with AIP with malignant hypertension that recurred with a subsequent episode. Mechanisms of hypertension and renal damage are discussed.
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PMID:Acute intermittent porphyria: an unusual cause of malignant hypertension. 1272 76

In this paper a case of 46-year-old woman suffering from the acute intermittent porphyria (AIP) was presented. She developed the chronic renal failure due to the hypertension, reccurent urinary tract infections and neurogenic urinary bladder following the autonomic neuropathy. The patient eventually died in spite of haemodialysis. Skin lesions observed in the last stage of the disease could be an evidence of the possible conversion of AIP in variegate porphyria (VP). However, this suspicion is only the hypothesis due to the lack of the adequate enzymatic lab tests.
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PMID:[Acute intermittent porphyria coexisting with chronic postinfectious renal failure]. 1567 71

The acute or inducible hepatic porphyrias comprise four inherited disorders of heme biosynthesis. They usually remain asymptomatic for most of the lifespan of individuals who inherit the specific enzyme deficiencies but may cause life-threatening attacks of neurovisceral symptoms. Failure to consider the diagnosis frequently delays effective treatment, and inappropriate diagnostic tests and/or mistaken interpretation of results may lead to misdiagnosis and inappropriate treatment. The four disorders are ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type I. The diagnosis of one of these acute porphyric syndromes should be considered in many patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. Critical to the rapid diagnosis of the three most common of these disorders is demonstration of markedly increased urinary porphobilinogen (PBG) in a single-void urine specimen. The treatment of choice for all but mild attacks of the acute porphyrias is intravenous hemin therapy, which should be started as soon as possible. Intravenous glucose alone is recommended only for mild attacks (no weakness or hyponatremia) or until hemin is available.
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PMID:Neurovisceral porphyrias: what a hematologist needs to know. 1630 55

Acute intermittent porphyria is a rare autosomal dominant hereditary inborn error of metabolism of the heme biosynthetic pathway that can be exacerbated through a multitude of environmental factors. This article is a case study describing the pathophysiology, clinical presentation management, and exacerbation prevention of acute intermittent porphyria. The disease is clinically manifested with severe abdominal pain, confusion, and seizures which may be life threatening. Specific treatment with heme preparations should be instituted as soon as increased excretion of porphobilinogen through urine sampling is confirmed. Supportive treatment includes opiate analgesia, monitoring for and treating complications such as hypertension and hyponatremia. Follow-up should include family counseling regarding genetic defects and individual counseling regarding lifestyle changes including avoidance of environmental factors that have been implicated in the exacerbation of the disease.
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PMID:Abdominal pain due to acute intermittent porphyria: when is the sound of hoof-beats not horses, but zebras? A case report. 1672 Nov 83

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 prophyria (AIP) is an autosomal dominant disease that results from a defect in the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the most common of hepatic porphyrias and can tax the therapeutic capabilities of the physician to the limit. Motor weakness is a major feature of an acute attack, and flaccid paralysis of all extremities can occur rapidly, within a matter of days. The acute attacks may be life threatening. Hematin (Heme Arginate) should be given early during an acute attack to prevent neurologic sequel. Hemodialysis and hemoperfusion have been tried in the treatment of acute attacks of AIP with success. As hematin is not available in India, a severe acute attack of AIP in a patient was managed with hemodialysis successfully. Later, hematin was imported and provided to the patient. An 18-year-old girl was admitted to our hospital with recurrent abdominal pain and 2 episodes of convulsions. She had undergone an appendectomy earlier at another hospital for abdominal pain. On evaluation, she had hyponatremia, episodic abnormal behavior, generalized muscle pain, hypertension, and sinus tachycardia. In view of the above clinical picture, a clinical diagnosis of acute intermittent porphyria was made. Her 24-hr urinary porphobilinogen was 90.8 mg/day (<2 mg-normal) and alpha amino levalunic acid was 108.8 mg/day (1-7 mg-normal), consistent with the diagnosis. Her hyponatremia was corrected. Arrangements were made to import hematin and she was managed with dextrose infusion. Meanwhile, she developed flaccid quardriparesis with urinary incontinence and bulbar palsy. Her brain MRI was normal. Her nerve conduction study was suggestive of motor radiculoneuropathy. Specific treatment for severe porphyric crisis was planned. She failed to improve with dextrose infusion alone. As hematin was not readily available in the country, other therapeutic options were considered. As few case reports of AIP being successfully treated with hemodialysis were available, the option of dialytic support was explained to the family. After procuring informed consent, she was subjected to hemodialysis for 4 hr in the first day, increasing to 6 hr a day for the next 6 days. Her abdominal pain and myalgia subsided on the third day of dialysis. Her lower limb muscle power improved and she became ambulant by the fourth day. Urinary retention improved within 4 days. Hematin was imported by then from the United States. Later, 2 doses of hematin (4 mg/kg-160 mg in 20% albumin) were given via a central vein. She was maintained on physiotherapy. Repeat nerve conduction study revealed recovery. She has been provided with a list of drugs that have to be avoided. Currently, she is on outpatient follow-up with occasional abdominal pain, which subsides with intravenous dextrose therapy.
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PMID:Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries. 1827 38

Despite the little known association between renal damage and the acute porphyrias, limited information is available on the characteristics and pathogenesis of renal disease in this patient group. Previous reports have focused on hypertension as the principal etiological factor. We have studied a series of 9 patients with acute intermittent porphyria (AIP) attending the Porphyria Clinic at King's College Hospital, London, UK, who were referred to the Renal Unit for investigation and treatment of their renal disease. No evidence of a glomerular lesion was found in any of the patients. In contrast, renal histology showed features of a tubulointerstitial disease, and there was evidence of impaired erythropoietin production. Hypertension and nonsteroidal antiinflammatory drug use were present in about a half of the patients. It is postulated that the nephrotoxic effects of porphyrin precursors may contribute to the etiology of this clinical syndrome.
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PMID:Acute intermittent porphyria and chronic renal failure. 1853 96

A 47-year-old man presented with abdominal pain, neck stiffness, severe transient hypertension and unusually dark urine. Cerebrospinal fluid investigations and angiography confirmed the diagnosis of a subarachnoid haemorrhage. Porphyrin studies on the patient and his family demonstrated that the family has acute intermittent porphyria. This is the second case report of an acute hepatic porphyria presenting with a subarachnoid haemorrhage. Acute transient hypertension during the attack of porphyria caused the rupture of an intracranial arterial aneurysm.
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PMID:Acute intermittent porphyria presenting with a subarachnoid haemorrhage. 1956 64


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