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

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

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

The disturbance of porphyrin metabolism is principally differentiated into the porphyrias and secondary porphyrinopathies. Alcohol, drugs, heavy metal, and various diseases can cause secondary porphyrinopathy. Among them, alcohol is a major porphyrinogenic agent, and it may cause disturbances in the porphyrin metabolism, resulting in the biochemical and clinical manifestations of porphyria. We herein report on a case of secondary porphyrinopathy caused by long-term ingestion of alcohol in a 47-year-old man. He presented with painful, multiple bullae and erosion with erythematous patches on the dorsal side of both hands and arms, along with periorbital erythema and hyperpigmentation. The laboratory evaluation revealed a slight increase in urine uroproporphyrin without any abnormalities of the heme metabolites. Histopathological examination showed subepidermal bullae and vascular dilatation in the upper dermis. Periodic acid-Schiff stain revealed a mild degree of thickening of the vessel walls and the floor of the bullae. Based on these clinical, laboratory and histopathological findings, we diagnosed this case as secondary prophyrinopathy rather than porphyria.
Alcoholism ; Arm ; Blister ; Dermis ; Dilatation ; Eating ; Erythema ; Floors and Floorcoverings ; Glycosaminoglycans ; Hand ; Heme ; Humans ; Hyperpigmentation ; Middle Aged ; Porphyrias

Adult ; Hepatitis B ; complications ; Hepatitis B virus ; Humans ; Male ; Porphyrias, Hepatic ; virology

No abstract available.
Alcoholism* ; Porphyria Cutanea Tarda* ; Porphyrias*