Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Transplant. Jan 18, 2022; 12(1): 8-14
Published online Jan 18, 2022. doi: 10.5500/wjt.v12.i1.8
Diagnosis of acute intermittent porphyria in a renal transplant patient: A case report
Cristina Sirch, Niloufar Khanna, Lynda Frassetto, Francesco Bianco, Mary Louise Artero
Cristina Sirch, Francesco Bianco, Mary Louise Artero, Nefrologia e Dialisi, Azienda Sanitaria Universitaria Giuliano Isontina, Trieste 34100, Italy
Niloufar Khanna, Medicine, California Northstate University, Elk Grove, CA 95757, United States
Lynda Frassetto, Internal Medicine, Division of Nephrology, University of California San Francisco, San Francisco, CA 94193, United States
Author contributions: Sirch C, Artero ML, and Khanna N contributed equally to this work with regard to diagnosis, obtaining the data, and writing the manuscript; Frassetto L and Bianco F assisted in data analysis and writing of the manuscript; and all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: None of the authors report a conflict of interest concerning this case report.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Cristina Sirch, MD, Doctor, Nefrologia e Dialisi, Azienda Sanitaria Universitaria Giuliano Isontina, Piazza dell'Ospitale 2, Trieste 34100, Italy. cristina.sirch@asugi.sanita.fvg.it
Received: August 11, 2021
Peer-review started: August 11, 2021
First decision: October 27, 2021
Revised: November 16, 2021
Accepted: January 6, 2022
Article in press: January 6, 2022
Published online: January 18, 2022
Processing time: 153 Days and 19.6 Hours
Abstract
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 nephro-pathy. 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 low-carbohydrate 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.

Keywords: Acute intermittent porphyria; Post-transplantation diabetes; Mesalamine; Tacrolimus; Renal transplantation; Case report

Core Tip: This case report describes a common presentation of an uncommon disease, in which post-transplant complications and medications may have contributed to precipitating his previously undiagnosed acute intermittent porphyria. 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 in a post-renal transplantation patient.