{"title":"27 岁女性患者的急性间歇性卟啉症（AIP）--病例报告","authors":"R. Hawaldar, Shana N S Khan","doi":"10.18231/j.jdpo.2023.058","DOIUrl":null,"url":null,"abstract":"Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Acute intermittent porphyria (AIP) in 27 year old female patient- Case report\",\"authors\":\"R. Hawaldar, Shana N S Khan\",\"doi\":\"10.18231/j.jdpo.2023.058\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.\",\"PeriodicalId\":364340,\"journal\":{\"name\":\"IP Journal of Diagnostic Pathology and Oncology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"IP Journal of Diagnostic Pathology and Oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.18231/j.jdpo.2023.058\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"IP Journal of Diagnostic Pathology and Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18231/j.jdpo.2023.058","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Acute intermittent porphyria (AIP) in 27 year old female patient- Case report
Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.
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