Copyright
©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 26, 2020; 8(2): 331-336
Published online Jan 26, 2020. doi: 10.12998/wjcc.v8.i2.331
Published online Jan 26, 2020. doi: 10.12998/wjcc.v8.i2.331
OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China
Hong-Wen Zhang, Bai-Ge Su, Yong Yao, Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
Author contributions: Zhang HW collected the data and wrote the manuscript; Zhang HW and Su BG performed the diagnosis and treatment; Yao Y guided the diagnosis and treatment and revised the manuscript.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Yong Yao, MD, Chief Doctor, Department of Pediatrics, Peking University First Hospital, No. 1, Xi’anmen Dajie, Beijing 100034, China. yaoyong3238@126.com
Received: November 6, 2019
Peer-review started: November 6, 2019
First decision: December 4, 2019
Revised: December 5, 2019
Accepted: December 22, 2019
Article in press: December 22, 2019
Published online: January 26, 2020
Processing time: 71 Days and 23.7 Hours
Peer-review started: November 6, 2019
First decision: December 4, 2019
Revised: December 5, 2019
Accepted: December 22, 2019
Article in press: December 22, 2019
Published online: January 26, 2020
Processing time: 71 Days and 23.7 Hours
Core Tip
Core tip: Oral-facial-digital syndrome type 1 (OFD1) is a rare ciliopathy mainly with an X-linked dominant pattern of inheritance, which is caused by mutations in the OFD1 gene. It is reported that approximately 15%–50% cases of OFD1 progress to end-stage renal disease following development of polycystic kidney diseases. The phenotypic spectrum associated with OFD1 mutations has been recently extended with an X-linked recessive pattern of inheritance. Here we report a pair of childhood male twins who presented only renal failure and polycystic kidney disease caused by an OFD1 mutation with an X-linked recessive fashion of inheritance in China.