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*

Pediatric diseases are important because diagnosis and care for these can be complex. Among them, specific diseases have been associated with ocular involvement. This review presents the ocular manifestations of various pediatric diseases relevant to the clinician. An array of ocular manifestations of hyperthyroidism, hypoparathyroidism, diabetes mellitus, porphyria, cystinosis, mucopolysaccharidosis, Wilson disease, juvenile idiopathic arthritis, systemic lupus erythematosus, Marfan syndrome, Weill-Marchesani syndrome are described. In this review we will review ocular manifestations of systemic pediatric diseases for comprehensive understanding of eye involvement. With this review, authors can recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.
Arthritis, Juvenile ; Cystinosis ; Diabetes Mellitus ; Diagnosis ; Hepatolenticular Degeneration ; Hyperthyroidism ; Hypoparathyroidism ; Lupus Erythematosus, Systemic ; Marfan Syndrome ; Mucopolysaccharidoses ; Pediatrics ; Porphyrias ; Weill-Marchesani Syndrome

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

Porphyrias are a group of diseases characterized by an enzyme deficiency in the heme biosynthesis pathway, resulting in accumulation of precursor molecules in the tissue. Some porphyric patients develop progressive liver disease that requires liver transplantation. This case report describes special anesthetic challenges, including careful selection of drugs and the use of special filters that can exclude harmful wavelengths of ultraviolet, in a patient with porphyria who underwent living donor liver transplantation. Understanding the patient's status and disease process, and avoiding triggering factors of porphyria attacks, are important for successful liver transplantation anesthesia in patients with porphyria.
Anesthesia ; Heme ; Humans ; Liver ; Liver Diseases ; Liver Transplantation ; Living Donors ; 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