| HCP | Hereditary Copro-Porphyria; 유전성 CoproPorphyria |
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| EPP | Erythropoietic Proto-Porphyria |
| PP | 1) Presenting Part 2) Plasma-Pheresis 3) Pancreatic Polype... |
| PTC | 1) Percutaneous Transhepatic Cholangiography = PTHC ... |
| AIP | acute idiopathic pericarditis; acute infectious polyneuritis; acute intermittent porphyria; aldoster... |
| hepatic porphyria | A category of porphyria that includes porphyria cutanea tarda, variegate porphyria, and coproporphyria. Synonym: porphyria hepatica. (05 Mar 2000) |
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| hepatoerythropoietic porphyria | An autosomal recessive disorder in which there is a deficiency or absence of uroporphyrinogen decarboxylase; results in photosensitivity and excessive hepatic production of 8-and 7-carboxylate porphyrins. (05 Mar 2000) |
| South African type porphyria | Porphyria characterised by abdominal pain and neuropsychiatric abnormalities, by dermal sensitivity to light and mechanical trauma, by increased faecal excretion of proto-and coproporphyrin, and by increased urinary excretion of d-aminolevulinic acid, porphobilinogen, and porphyrins; due to a deficiency of protoporphyrinogen oxidase; autosomal dominant inheritance. Synonym: protocoproporphyria hereditaria, South African type porphyria. (05 Mar 2000) |
| squirrel porphyria | Porphyria as an apparently normal metabolic state seen in the Florida fox squirrel (Sciurus niger). (05 Mar 2000) |
| d-aminolevulinate dehydratase porphyria | An inherited disorder in which there is a deficiency of porphobilinogen synthase; d-aminolevulinate levels are elevated, leading to neurological disturbances. Synonym: porphobilinogen synthase porphyria. (05 Mar 2000) |
| swine porphyria | Porphyria as a dominant trait seen in swine. (05 Mar 2000) |
| symptomatic porphyria | A form of hepatic porphyria (porphyria, hepatic) characterised by photosensitivity resulting in bullae that rupture easily to form shallow ulcers. This condition occurs in two forms: a sporadic, nonfamilial form that begins in middle age and has normal amounts of uroporphyrinogen decarboxylase with diminished activity in the liver; and a familial form in which there is an autosomal dominant inherited deficiency of uroporphyrinogen decarboxylase in the liver and red blood cells. (12 Dec 1998) |
| intermittent acute porphyria | <gastroenterology, haematology> A group of rare inherited metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. It is caused by hepatic overproduction of d-aminolevulinic acid, which has greatly increased urinary excretion and of porphobilinogen, and some increase of uroporphyrin, due to a deficiency of porphobilinogen deaminase. Clinical features: intermittent acute attacks of hypertension, abdominal colic, psychosis, and polyneuropathy, but with no photosensitivity. It is exacerbated by the ingestion of certain drugs such as; barbiturates). Inheritance: autosomal dominant. (20 Sep 2002) |
| ovulocyclic porphyria | Acute episodic exacerbations of porphyria occurring in the premenstrual period. (05 Mar 2000) |
| erythropoietic porphyria | A classification of porphyria that includes congenital erythropoietic porphyria and erythropoietic protoporphyria. (05 Mar 2000) |
| Albright's hereditary osteodystrophy | An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably the small fourth metacarpals, but intelligence is normal. There are dominant, recessive and X-linked forms. See: pseudohypoparathyroidism. Synonym: Albright's syndrome. (05 Mar 2000) |
| angioedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| angioneurotic oedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| canine hereditary blindness | An autosomal dominant condition seen in dogs of the collie and several other breeds. (05 Mar 2000) |
| colourectal neoplasms, hereditary nonpolyposis | A syndrome characterised by autosomal dominant inheritance, a low mean age (41 years) for occurrence of colon cancer, and a marked increase in the proportion of tumours in the proximal colon. (12 Dec 1998) |