NANDO ID: 1200812 https://nanbyodata.jp/ontology/NANDO_1200812 Copy

Acute intermittent porphyria

Overview

Synonyms
EN
acute intermittent porphyria
AIP
AIP - acute intermittent porphyria
HMBS deficiency
hydroxymethylbilane synthase deficiency
PBGD deficiency
porphobilinogen deaminase deficiency
porphyria intermittent acute
porphyria, acute intermittent
porphyria, acute intermittent, Nonerythroid variant
porphyria, Chester type
porphyria, Swedish type
pyrroloporphyria
UPS deficiency
uroporphyrinogen synthase deficiency
Modes of inheritance
Links
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OMIM:176000MONDO:0008294acute intermittent porphyriaExact Match

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Orphanet IDBridge IDMONDO Label (EN)Match TypeFeedback(*)
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Descriptions
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. >> 翻訳 (Google)
Acute intermittent porphyria (AIP), an autosomal dominant disorder, occurs in heterozygotes for an HMBS pathogenic variant that causes reduced activity of the enzyme porphobilinogen deaminase. AIP is considered ""overt"" in a heterozygote who was previously or is currently symptomatic; AIP is considered ""latent"" in a heterozygote who has never had symptoms, and typically has been identified during molecular genetic testing of at-risk family members. Note that GeneReviews does not use the term ""carrier"" for an individual who is heterozygous for an autosomal dominant pathogenic variant; GeneReviews reserves the term ""carrier"" for an individual who is heterozygous for an autosomal recessive disorder and thus is not expected to ever develop manifestations of the disorder. Overt AIP is characterized clinically by life-threatening acute neurovisceral attacks of severe abdominal pain without peritoneal signs, often accompanied by nausea, vomiting, tachycardia, and hypertension. Attacks may be complicated by neurologic findings (mental changes, convulsions, and peripheral neuropathy that may progress to respiratory paralysis), and hyponatremia. Acute attacks, which may be provoked by certain drugs, alcoholic beverages, endocrine factors, calorie restriction, stress, and infections, usually resolve within two weeks. Most individuals with AIP have one or a few attacks; about 3%-8% (mainly women) have recurrent attacks (defined as >3 attacks/year) that may persist for years. Other long-term complications are chronic renal failure, hepatocellular carcinoma (HCC), and hypertension. Attacks, which are very rare before puberty, are more common in women than men. Latent AIP. While all individuals heterozygous for an HMBS pathogenic variant that predisposes to AIP are at risk of developing overt AIP, most have latent AIP and never have symptoms. >> 翻訳 (Google)