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 

机构地区：[1]Nefrologia e Dialisi,Azienda Sanitaria Universitaria Giuliano Isontina,Trieste 34100,Italy [2]Medicine,California Northstate University,Elk Grove,CA 95757,United States [3]Internal Medicine,Division of Nephrology,University of California San Francisco,San Francisco,CA 94193,United States

出　　处：《World Journal of Transplantation》2022年第1期8-14,共7页世界移植杂志

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 population.AIP is caused by an autosomal dominant-inherited mutation of low penetrance resulting in a deficiency of porphobilinogen deaminase(PBGD)activity.Acute attacks are provoked by stressors such as certain medications,alcohol,and infection.We herein present the first case report of AIP detected in a post-renal transplant patient.CASE SUMMARY The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephropathy.He subsequently developed diabetes mellitus which required insulin therapy.He had been treated in the recent past with local mesalamine for proctitis.He presented with classic but common symptoms of AIP including intense abdominal pain,hypertension,and anxiety.He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained.His 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 improved.CONCLUSION 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 AIP.We hypothesize that the lowcarbohydrate diet and insulin with which our patient was treated may have led to the attacks of AIP.Alternatively,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.

关 键 词：Acute intermittent porphyria Post-transplantation diabetes MESALAMINE TACROLIMUS Renal transplantation Case report 

分 类 号：R57[医药卫生—消化系统]