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

No abstract available.
Humans ; Kidney Failure, Chronic ; Porphyria Cutanea Tarda* ; Porphyrias* ; Renal Dialysis*

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

No abstract available.
Humans ; Interferon-beta ; Interferons ; Multiple Sclerosis ; Porphyria Cutanea Tarda ; Porphyrias

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting from abnormalities in ferrochelatase (FECH) activity due to mutations in the FECH gene. Protoporphyrin is excreted by the liver, and excess protoporphyrin leads to cholelithiasis with obstructive episodes and chronic liver disease, finally progressing to liver cirrhosis. Patients with end-stage EPP-associated liver disease require liver transplantation. We describe here a 31-year-old male patient with EPP who experienced acute-on-chronic liver failure and underwent deceased-donor liver transplantation. Surgical and postoperative care included specific shielding from exposure to ultraviolet radiation to prevent photosensitivity-associated adverse effects. The patient recovered uneventfully and was doing well 24 months after transplantation. Future prevention and treatment of liver disease are discussed in detail.
Acute Disease ; Adult ; End Stage Liver Disease/etiology/pathology/*therapy ; Ferrochelatase/genetics/metabolism ; Humans ; Liver Cirrhosis/diagnosis ; *Liver Transplantation ; Male ; Mutation ; Protoporphyria, Erythropoietic/complications/*diagnosis/pathology

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

Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis caused by mutations in the gene encoding the enzyme ferrochelatase. In EPP, deficient ferrochelatase activity leads to the excessive production and biliary excretion of protoporphyrin (PP). The major clinical features of EPP are photosensitivity and hepatobiliary disease that may progress to severe liver disease, that are caused by the toxicity of PP. EPP-related liver disease has been treated medically or surgically including liver transplantation. We described a 20-year-old male with severe liver disease who was diagnosed with EPP based on clinical and laboratory findings. He was treated with cholestyramine resin. Six months after the treatment, he was doing well without any abdominal pain or photosensitivity.
Bilirubin/blood ; Cholestyramine Resin/*therapeutic use ; Edema/complications ; Erythema/complications ; Ferrochelatase/genetics/metabolism ; Humans ; Liver Diseases/complications/*diagnosis/pathology ; Male ; Protoporphyria, Erythropoietic/complications/*diagnosis/drug therapy ; Protoporphyrins/metabolism ; Young Adult

Porphyria cutanea tarda (PCT) is a metabolic disorder that results in a decrease in uroporphyrinogen decarboxylase activity. It is characterized by photosensitivity, bullae formation, and skin pigmentation. There are four types of PCT: acquired, familial, toxic, and hepatoerythropoietic. Uroporphyrin levels are elevated in the urine of PCT patients. PCT can be differentiated from other porphyrias by its clinical characteristics and the porphyrin levels in the serum, erythrocytes, urine, and feces. This metabolic disorder can lead to liver dysfunction as well as histological changes such as fatty infiltration or hepatic fibrosis. PCT rarely manifests as liver cirrhosis. We report herein a case of PCT-induced liver cirrhosis that progressed to hepatic failure.
Blister ; Erythrocytes ; Feces ; Fibrosis ; Humans ; Liver ; Liver Cirrhosis ; Liver Diseases ; Liver Failure ; Porphyria Cutanea Tarda ; Porphyrias ; Skin Pigmentation ; Uroporphyrinogen Decarboxylase