Diagnosis of acute intermittent porphyria in a renal transplant patient:A case report

作     者：Cristina Sirch Niloufar Khanna Lynda Frassetto Francesco Bianco Mary Louise Artero 

作者机构：Nefrologia e DialisiAzienda Sanitaria Universitaria Giuliano IsontinaTrieste 34100Italy MedicineCalifornia Northstate UniversityElk GroveCA 95757United States Internal MedicineDivision of NephrologyUniversity of California San FranciscoSan FranciscoCA 94193United States 

出 版 物：《World Journal of Transplantation》 (世界移植杂志)

年 卷 期：2022年第12卷第1期

页      面：8-14页

学科分类：1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Acute intermittent porphyria Post-transplantation diabetes Mesalamine Tacrolimus Renal transplantation Case report 

摘      要：BACKGROUND Acute intermittent porphyria(AIP)is an inherited disorder of porphyrin metabolism with a worldwide distribution and a prevalence ranging from 1 to 9 per million *** is caused by an autosomal dominant-inherited mutation of low penetrance resulting in a deficiency of porphobilinogen deaminase(PBGD)*** attacks are provoked by stressors such as certain medications,alcohol,and *** herein present the first case report of AIP detected in a post-renal transplant *** SUMMARY The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial *** subsequently developed diabetes mellitus which required insulin *** had been treated in the recent past with local mesalamine for *** presented with classic but common symptoms of AIP including intense abdominal pain,hypertension,and *** had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was *** urinary postprandial blood glucose level was 60 mg/24 h(normal,2 mg/24 h).He was placed on a high carbohydrate diet,and his symptoms slowly *** This case report describes a common presentation of an uncommon disease,in which post-transplant complications and medications may have contributed to precipitating the previously undiagnosed *** hypothesize that the lowcarbohydrate diet and insulin with which our patient was treated may have led to the attacks of ***,our patient’s mesalamine treatment for proctitis may have led to an acute AIP crisis.A high index of suspicion is needed to consider the diagnosis of a heme synthesis disorder,which presents with the common symptoms of abdominal pain,high blood pressure,and anxiety.