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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Acute intermittent porphyria ： ウィキペディア英語版 Acute intermittent porphyria Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common form of porphyria (porphyria cutanea tarda being the most common). Its incidence is estimated to be between 5 and 10 in 100,000, but this is likely underestimated because of positive cases not being induced, and long periods of latency, with an estimation that it is latent in 90% of cases.〔(Medscape > Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias ) Author: Norman C Reynolds. Chief Editor: Stephen A Berman. Updated: Mar 23, 2009〕 ==Signs and symptoms== Signs and symptoms of AIP can be variable. Severe and poorly localized abdominal pain is a very common symptom (found in 95% of those affected by AIP). Urinary symptoms such as painful urination, urinary retention, urinary incontinence, or dark urine have also been known to occur. Psychiatric signs and symptoms of AIP may manifest as anxiety, agitation, hallucinations, delirium, or depression. Signs that suggest dysfunction of the autonomic nervous system may be evident including an abnormally fast heart rate, high blood pressure, sweating, restlessness, and tremor. Other neurologic signs and symptoms of AIP include peripheral neuropathy and abnormal sensations. Proximal muscle weakness typically beginning in the arms is characteristic; the muscle weakness seen in AIP can progress to include the muscles of breathing and can be fatal. Electrolyte disturbances such as low blood sodium may be seen due to SIADH when the hypothalamus is involved in the disease process. One possible complication of low blood sodium in those with AIP is seizures.〔Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, et al. (Eds), McGraw-Hill, New York 2001. p.2991.〕 Unlike other porphyrias, rash is not typically seen in AIP. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Acute intermittent porphyria」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.