Acute intermittent porphyria (AIP) has complicated clinical manifestations and is often accompanied by hypertension.AIP may cause hypertension through adrenergic effect,heme deficiency,inflammation,inappropriate secretion of antidiuretic hormone,toxicity of delta-aminolevulinic acid(ALA,aporphyrin precursor),and elevated serum glucose level.The prevention and treatment strategies for AIP accompanied with hypertension mainly include the controlling of porphyria attacks,application of antihypertensive drugs,lifestyle intervention,and management of latent AIP patients.
Humans ; Porphyria, Acute Intermittent ; Blood Glucose ; Hypertension/etiology* ; Inflammation ; Life Style

No abstract available.
Leg* ; Porphyria, Acute Intermittent* ; Porphyrias

Endocrinology ; methods ; Humans ; Male ; Middle Aged ; Porphyria, Acute Intermittent ; diagnosis ; genetics

Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants. Clinical features include abdominal pain, neurologic manifestations, autonomic neuropathy, and mental disturbance. Diagnosis may be delayed because of variable symptoms that mimic other diseases and because of the rarity of of porphyrias. Although most patients with known porphyria can complete anesthesia and surgery safely, undiagnosed porphyric patients are in danger of porphyric crisis due to inadvertent exposure to precipitating drugs and environment. We report a case of a patient who experienced delayed emergence with neurological disturbance after general anesthesia, ultimately diagnosed as acute intermittent porphyria.
Abdominal Pain ; Anesthesia ; Anesthesia, General* ; Biosynthetic Pathways ; Delayed Emergence from Anesthesia ; Diagnosis ; Guillain-Barre Syndrome ; Heme ; Humans ; Neurologic Manifestations* ; Porphyria, Acute Intermittent* ; Porphyrias ; Spine* ; Wernicke Encephalopathy

Acute intermittent porphyria (AIP) is a rare disorder characterized biochemically by the increased excretion of porphyrins and porphyrin precursors, including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). AIP has variable clinical manifestations, such as acute abdominal pain, vomiting, nausea, constipation, peripheral neuropathy, seizures, tachycardia, and hypertension. A 16-year-old girl presented with recurrent abdominal pain, vomiting, hypertension, seizures, hypercholesterolemia, and red urine. AIP was confirmed by clinical features and increased 24-hour urine ALA and PBG. AIP should be considered in the differential diagnosis of patients who have abdominal pain, hypertension, and seizures when the results of all other tests are normal.
Abdominal Pain ; Adolescent ; Aminolevulinic Acid ; Constipation ; Diagnosis, Differential ; Humans ; Hypercholesterolemia ; Hypertension ; Nausea ; Peripheral Nervous System Diseases ; Porphobilinogen ; Porphyria, Acute Intermittent ; Porphyrins ; Seizures ; Tachycardia ; Vomiting

Adolescent ; Aminolevulinic Acid ; pharmacology ; Female ; Humans ; Porphyria, Acute Intermittent ; physiopathology

A 34-year old woman visited the hospital complaining severe general pain which had onset on the way of improvement of sore throat, cough with sputum as symptoms of acute upper respiratory infection for 3 days. The facts that her younger sister also had a history of porphyria and the color of the patient's urine changed to dark black after it had exposed to sunlight made us to rule out porphyria strongly. Therefore, we measured the level of delta-ALA and porphobilinogen in the collected urine during 24 hours, and confirmed her diagnosis as acute intermittent porphyria. The SIADH was complicated and the sleep disturbance, disorientation and hallucination onset during the hospital days. She had taken high dose dextrose IV and hematin IV therapy for porphyria and improved gradually. Therefore, authors et al. report a case of acute intermittent porphyria with various clinical symptoms on the way of treatment of upper respiratory infection as well as review the previous literatures.
Cough ; Diagnosis ; Female ; Glucose ; Hallucinations ; Hemin ; Humans ; Inappropriate ADH Syndrome ; Pharyngitis ; Porphobilinogen ; Porphyria, Acute Intermittent ; Porphyrias* ; Siblings ; Sputum ; Sunlight

Abdominal Pain ; etiology ; Child, Preschool ; Humans ; Male ; Porphyria, Acute Intermittent ; complications ; diagnosis ; therapy ; Prognosis ; Treatment Outcome

Child ; Diagnosis, Differential ; Diagnostic Errors ; Female ; Humans ; Porphyria, Acute Intermittent ; diagnosis ; therapy

BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by recurrent abdominal pain with neuropsychiatric symptoms and motor dominant polyneuropathy. The purpose of this study is to characterize neurological manifestations and clinical course of AIP in Korean. METHODS: Medical records from 1984 to 2001 were reviewed retrospectively. There were 23 cases of laboratory confirmed AIP. RESULTS: The clinical characteristics of AIP are the acute abdominal pain without fever or leukocytosis. Neuropsychiatric symptoms or polyneuropathy occurred in 13 cases (56.5%). Among the 13 cases, there were 4 cases with neuropsychiatric symptoms only, 3 with polyneuropathy only and 6 with both of them. Polyneuropathy was usually preceded by neuropsychiatric symptoms. Severe sensori-motor polyneuropathy with respiratory failure occurred in 4 cases, where one expired. Hyponatremia was seen in 14 cases (60.8%) and 7 of them had the neuropsychiatric symptoms. CONCLUSIONS: The clinical characteristics of AIP include acute abdominal pain without leukocytosis or fever, and hyponateremia. The neuropsychiatric symptoms and peripheral neuropathy in AIP may occur by improper treatment for the acute abdominal pain, and can worsen by wrong treatment without clinical suspicion.
Abdominal Pain ; Fever ; Hyponatremia ; Leukocytosis ; Medical Records ; Neurologic Manifestations* ; Peripheral Nervous System Diseases ; Polyneuropathies ; Porphyria, Acute Intermittent* ; Respiratory Insufficiency ; Retrospective Studies ; Seizures