Case Report
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
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
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
Abstract
BACKGROUND

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. The OFD1 protein is located within the centrosomes and basal bodies of the primary cilia. It is reported that approximately 15%–50% cases of OFD1 progress to end-stage renal disease (ESRD) following development of polycystic kidney diseases (PKD). Here we report a pair of childhood male twins who presented only renal failure and PKD caused by an OFD1 mutation in China.

CASE SUMMARY

A pair of 14-year male twins were hospitalized with a complaint of abnormal renal function for nine days. They both complained of ankle pain for 3 mo vs 2 wk, respectively. They denied fever, abdominal pain, daytime or nighttime enuresis, urgency, dysuria, or gross hematuria. Laboratory tests at a local hospital showed renal failure (serum creatinine 485 μmol/L vs 442 μmol/L, blood urea nitrogen 14.7 mol/L vs 14.5 mol/L) and anemia (hemoglobin 88 g/L vs 98 g/L). The twins are monozygotic. There was no abnormal birth, past medical, or family history. Clinical data were analyzed and genetic analysis on PKD was carried out in the twins by next-generation sequencing. The results showed that the twins presented low-molecular-weight proteinuria, hyposthenuria, anemia, renal failure, and renal polycystic changes. Genetic tests showed that the twins both carried a hemizygous mutation in exon 19 c.2524G>A (p. G842R) of the OFD1 gene. Their mother heterozygously carried the same mutation as the twins but was without any phenotypes while their father was normal.

CONCLUSION

We have reported a pair of childhood male twins with an OFD1 mutation who presented ESRD and PKD but without any other phenotypes of OFD1 in China.

Keywords: Renal failure, Polycystic kidney disease, OFD1 mutation, China, Case report

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.