Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute intermittent porphyria (AIP) is an inherited metabolic disease that can affect the autonomic, peripheral and central nervous systems. Pancreatic diseases assocated with AIP is rarely reported. We report here a 60-year-old non-alcoholic male who had typical manifestations of AIP, including abdominal pain, constipation, tachycardia, hypertension, mental disturbances, psychiatric manifestations, seizures, peripheral neuropathy, and excessive excretion of porphyrin precursors in urine. Increases of serum amylase and lipase, as well as mild pancreatic edema on ultrasonography, were noted during the acute attack of AIP, suggesting concomitant acute pancreatitis. In this patient, brain magnetic resonance imaging revealed reversible multifocal cerebral lesions resembling a posterior reversible encephalopathy syndrome (PRES) during the acute attack of AIP. Because the clinical manifestations of acute pancreatitis could be present with an acute attack of AIP, early confirmation of diagnosis is mandatory to effectively manage the attack and avoid inappropriate treatment.
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PMID:Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. 1897 24

The objective of this study was to update the clinical issues of acute intermittent porphyria (AIP), as they have not been in focus for years, and to be aware of potentially associated disorders and social consequences. A total of 356 gene carriers of AIP from northern Sweden participated in this retrospective population-based study. Eight mutations were found with a predominance of W198X (89%). Clinical manifestations of AIP (manifest AIP) were identified in 42%, 65% were women. Women were more severely stricken by AIP attacks concerning number and duration, hospital admission and early onset. Men reporting most attacks were > 40 years of age. In addition to traditional symptoms during attacks, fatigue was commonly described. Chronic AIP symptoms and disability pension due to AIP were reported in about 20% of subjects. Precipitating factors were reported with evident sex differences. Half of the gene carriers who were on medications used drugs considered not safe (in 1999), mainly antihypertensive drugs. Smoking was associated with high AIP attack frequency. Elevated levels of ALT, bile acids, creatinine, U-ALA and U-PBG and decreased levels of creatinine clearance were associated with manifest AIP. The same was true for hypertension and myalgia in the legs. Hepatoma was strikingly overrepresented. The high prevalence of manifest AIP in this study could be explained by a mutation-dependent penetrance. Our results emphasize the importance of early diagnosis, counselling and treatment of attacks, screening and treatment of associated disorders.
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PMID:Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study. 1940 33

We describe a case of acute intermittent porphyria in a woman who presented repeatedly with abdominal pain. Porphyrias are caused by decreased enzyme activity in the heme biosynthetic pathway leading to overproduction of heme precursors if demand increases. This can cause symptoms such as abdominal pain, nausea and vomiting, constipation, tachycardia and hypertension. Treatment includes removal of causative factors, administration of carbohydrates or hemin to reduce the production of heme precursors as well as symptomatic treatment.
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PMID:[Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature]. 2051 71

Acute intermittent porphyria (AIP) is inherited in an autosomal dominant fashion. Only 10% to 15% of the gene carriers have the clinical syndrome. The prevalence of AIP in Europe is 1/20,000. Pregnancy represents an essential risk factor in patients suffering from AIP. The clinical syndrome in AIP presents mainly with acute attacks, especially during the first trimester. Misdiagnosis of AIP unfortunately is very common. Pregnancy in women with AIP is associated with higher rates of spontaneous abortion, hypertension, low birth weight infants and considerable mortality (2-42%). Pregnancy, despite the major hormonal alterations it causes, is seldom associated with porphyric symptoms. There are only limited reports supporting the use of hemin during pregnancy, but experience indicates that it can be safely administered in pregnant women. Until clinical improvement is achieved, symptomatic treatment is recommended. Despite the fact that pregnancy in women suffering from AIP is related to higher rates of morbidity and complications, close management throughout the pregnancy could ensure a good outcome.
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PMID:Acute intermittent porphyria in pregnancy: a common misdiagnosis. 2135 51

Acute hepatic porphyrias stand for a group of rare genetic defects in the metabolism of heme biosynthesis, whereof acute intermittent porphyria is the most frequent one. Factors like drugs, infections, fasting, alcohol, or stress can provoke an acute crisis. The symptoms are very variable; however gastrointestinal and neuro-psychiatric symptoms are common. Furthermore darkening urine might be an important diagnostic sign. We describe the case of a 33-year-old psychiatric nurse presenting with stomach ache, hypertension, delirium and red spots in his underwear.
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PMID:[Delirious psychiatric nurse with abdominal pain - a medical chameleon]. 2136 64

Acute porphyria is a term that encompasses a group of hereditary disorders involving defects in heme metabolism, characterized by acute episodes of abdominal pain, acute hypertension, tachycardia and neuropsychiatric disorders, sometimes leading to convulsions, ascending paralysis and coma. Misdiagnosis or delayed diagnosis can seriously worsen prognosis. We report the case of a woman with subclinical acute intermittent porphyria and chronic hepatitis incidentally diagnosed due to transaminase elevation on laboratory analysis.
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PMID:[Subclinical acute intermittent porphyria. An uncommon cause of chronic hepatitis]. 2147 89

We report a 36-year-old woman presenting with hypertensive encephalopathy followed by bulbar palsy and quadriplegia. After an extensive screening for secondary causes of hypertension, the patient was suspected of having pheochromocytoma due to increased levels of catecholamines in the plasma and the urine, and positive (131)I-metaiodobenzylguanidine (MIBG) accumulation in the gallbladder. However, MIBG accumulation was not reproducible without any tumors accompanying this accumulation in the gallbladder. A diagnosis of acute intermittent porphyria was finally confirmed based on the characteristic pictures, increased urinary excretion of porphobilinogen, and identification of a heterozygous missense mutation of R173W in the hydroxymethylbilane synthase gene. This case highlights a pitfall in utilizing MIBG to detect a source of excessive catecholamine and also suggests the importance of having a complete clinical history and extensive work-up of any possible differential diagnosis. We also review the potential mechanism by which false-positive MIBG accumulation occurs.
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PMID:False-positive accumulation of metaiodobenzylguanidine in a case with acute intermittent porphyria. 2153 27

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominated by a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-five- year-old female patient, who had undergone a period of six days between the first presentation to the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.
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PMID:Differential diagnosis of acute abdominal pain - acute intermittent porphyria. 2184 59

Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral intake. He subsequently developed hyponatremia secondary to syndrome of inappropriate antidiuretic hormone secretion. His urinalysis was negative for red blood cells, and a random urine porphobilinogen level was elevated. Further biochemical and molecular testing confirmed the diagnosis of acute intermittent porphyria. His antiepileptic medications were discontinued and hemin administered, with dramatic clinical improvement. The diagnosis of acute intermittent porphyria was challenging because of his underlying neurologic condition. This case highlights the variable presentation of acute intermittent porphyria and emphasizes the importance of considering the diagnosis even in young patients with underlying neurologic conditions when they present with nonspecific neurovisceral symptoms or with unexplained neurologic deterioration.
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PMID:Acute intermittent porphyria: a diagnostic challenge. 2219 Apr 98

Intravenous (IV) calcium is usually given to temporarily treat the effects of hyperkalaemia on muscle and heart. When extravasation of a calcium gluconate infusion occurs, there may be rapid and marked swelling and erythema, with signs of soft-tissue necrosis or infection, and ensuing extensive local calcification, called calcinosis cutis. We report a 26-year-old woman who was hospitalized for exacerbation of acute intermittent porphyria. She had a history of hypertension and chronic renal failure. On the second day of her hospitalization, she developed hyperpotassaemia (6.7 mEq/L potassium; normal range 3.5-5 mEq/L). She was given an IV infusion of 10 mL calcium gluconate into the left dorsal pedal vein. Bullous skin reactions occurred in the infusion area nearly 2 h after administration. The patient's leg was elevated and the lesions cleaned with 0.9% saline. By day 9 of hospitalization, the lesions had markedly regressed. Several drugs have been associated with dermoepidermal blistering as an adverse drug reaction, but there is only one existing report in the literature about this side-effect associated with calcium gluconate. Clinicians should be alert to the possibility of bullous skin reactions, which may be a predictor of extravasation and necrosis, when treating patients with IV calcium gluconate.
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PMID:Bullous skin reaction seen after extravasation of calcium gluconate. 2283 Mar 30


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