Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 26, 2024; 12(27): 6111-6116
Published online Sep 26, 2024. doi: 10.12998/wjcc.v12.i27.6111
HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report
Li-Juan Ma, Wu Yang, Hong-Wen Zhang
Li-Juan Ma, Wu Yang, Hong-Wen Zhang, Department of Pediatrics, Peking University First Hospital Ningxia Women and Children’s Hospital, Yinchuan 750001, Ningxia Hui Autonomous Region, China
Hong-Wen Zhang, Department of Pediatric, Peking University First Hospital, Beijing 100034, China
Co-first authors: Li-Juan Ma and Wu Yang.
Author contributions: Ma LJ collected the data and wrote the manuscript; Yang W and Zhang HW performed the diagnosis and treatment; Zhang HW guided the diagnosis and treatment and revised the manuscript; Ma LJ and Yang W contributed equally to this work and should be considered co-first authors.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Hong-Wen Zhang, MD, Chief Doctor, Department of Pediatric, Peking University First Hospital, No. 1 Xi’anmen Dajie, Beijing 100034, China. zhanghongwen@126.com
Received: January 19, 2024
Revised: June 24, 2024
Accepted: July 18, 2024
Published online: September 26, 2024
Processing time: 193 Days and 19.6 Hours
Core Tip

Core Tip: HDR syndrome is a rare genetic disease caused by variants in the GATA3 gene and is phenotypically defined by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). Patients with HDR syndrome may exhibit the full phenotypic triad or only a subset. Renal disorders of HDR are mainly developmental abnormalities, although renal functional abnormalities can also be observed. Nephrotic syndrome or nephrotic-level proteinuria is rare in HDR syndrome. Here, we report a Chinese infant with HDR syndrome who present with early-onset nephrotic syndrome.