Almalki AH, Sadagah LF, Qureshi M, Maghrabi H, Algain A, Alsaeed A. Atypical hemolytic-uremic syndrome due to complement factor I mutation. World J Nephrol 2017; 6(6): 243-250 [PMID: 29226095 DOI: 10.5527/wjn.v6.i6.243]
Corresponding Author of This Article
Abdullah H Almalki, Section Head, Department of Medicine, King Abdulaziz Medical City, Western Region, PO Box 9515, Jeddah 21423, Saudi Arabia. malkia02@ngha.med.sa
Research Domain of This Article
Urology & Nephrology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
World J Nephrol. Nov 6, 2017; 6(6): 243-250 Published online Nov 6, 2017. doi: 10.5527/wjn.v6.i6.243
Atypical hemolytic-uremic syndrome due to complement factor I mutation
Abdullah H Almalki, Laila F Sadagah, Mohammed Qureshi, Hatim Maghrabi, Abdulrahman Algain, Ahmed Alsaeed
Abdullah H Almalki, Laila F Sadagah, Mohammed Qureshi, Hatim Maghrabi, Abdulrahman Algain, Ahmed Alsaeed, Ministry of National Guard, Jeddah 21423, Saudi Arabia
Abdullah H Almalki, Hatim Maghrabi, Ahmed Alsaeed, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard, Jeddah 21423, Saudi Arabia
Author contributions: Almalki AH carried out literature search, wrote the abstract and discussion, and revised and aligned the whole manuscript; Sadagah LF conducted independent literature search and wrote the background; Algain A collected clinical information and wrote the initial case description; Qureshi M revised all collected clinical information and wrote the final case description and the draft of the abstract; Maghrabi H prepared the slides, provided histological description, and aided in writing the case description; Alsaeed A carried out independent search on hematologic literature and revised and edited the discussion; all authors read and approved the final manuscript.
Institutional review board statement: This case report was exempt from the Institutional Review Board standards at King Abdulaziz International Medical Research Centre.
Informed consent statement: The patient involved in this study gave written informed consent authorizing the use and disclosure of her clinical data.
Conflict-of-interest statement: All authors have no conflict of interest to declare.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Abdullah H Almalki, Section Head, Department of Medicine, King Abdulaziz Medical City, Western Region, PO Box 9515, Jeddah 21423, Saudi Arabia. malkia02@ngha.med.sa
Telephone: +966-12-2266666 Fax: +966-2-2266200
Received: June 27, 2017 Peer-review started: June 28, 2017 First decision: September 4, 2017 Revised: September 12, 2017 Accepted: November 1, 2017 Article in press: November 1, 2017 Published online: November 6, 2017 Processing time: 153 Days and 4.1 Hours
ARTICLE HIGHLIGHTS
Case characteristics
A middle age woman who presented with acute kidney injury (AKI) and features of thrombotic microangiopathy (TMA).
Clinical diagnosis
TMA, most likely atypical hemolytic uremic syndrome.
Differential diagnosis
Causes of TMA with AKI: hemolytic uremic syndrome, thrombotic thrombocytopenic purpura (primary and secondary causes).
Laboratory diagnosis
Thrombocytopenia, elevated lactate dehydrogenase, schistocytes on peripheral blood film, acute kidney injury with normal coagulation profile and complement factor I mutation on genetic testing.
Imaging diagnosis
Computer tomography to exclude underlying malignancy as secondary causes.
Pathological diagnosis
Renal biopsy showing features of TMA with renal cortical necrosis, and acute tubular necrosis.
Treatment
Plasma exchange, dialysis and eculizumab.
Related reports
Previous cases of aHUS showing remission with initiation of eculizumab and maintenance of remission despite its discontinuation.
aHUS is a serious diagnosis that requires a high index of suspicion in cases presenting with unexplained AKI associated with microangiopathy. Renal benefit of eculizumab may be seen even with late initiation of the drug.
