Ma LJ, Yang W, Zhang HW. HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report. World J Clin Cases 2024; 12(27): 6111-6116 [DOI: 10.12998/wjcc.v12.i27.6111]
Corresponding Author of This Article
Hong-Wen Zhang, MD, Chief Doctor, Department of Pediatric, Peking University First Hospital, No. 1 Xi’anmen Dajie, Beijing 100034, China. zhanghongwen@126.com
Research Domain of This Article
Genetics & Heredity
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 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: 192 Days and 2.5 Hours
Abstract
BACKGROUND
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). 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 presented with early-onset nephrotic syndrome. We suggest that variants in the GATA3 gene might be associated with nephrotic syndrome.
CASE SUMMARY
A 9-month-old boy was hospitalized with a complaint of diarrhea. Proteinuria was detected in the patient by routine testing for 3 days. No edema, oliguria, fever or abnormal urine color were observed. Routine urinary tests at a local hospital revealed proteinuria (protein 3 +) and microscopic hematuria (red blood cells 5-10/HP). The patient was born by cesarean delivery due to placental abruption at 35 weeks + 4 days of gestation. Intrauterine growth retardation was detected beginning at 6 months of gestation. His birth weight was 1.47 kg (< P3th), length was 39 cm (< P3th), and head circumference was 28 cm (< P3th). His motor developmental milestones were obviously delayed. Clinical data were analyzed, and genetic analysis for hereditary nephrotic syndrome was performed by next-generation sequencing. The clinical data showed that the boy exhibited growth retardation, early-onset nephrotic syndrome, microscopic hematuria, sensorineural deafness, T-cell immunodeficiency and congenital heart disease. Genetic tests revealed that the boy carried a de novo hemizygous variant, c.704C>T (p.Pro235 Leu), in exon 3 of the GATA3 gene.
CONCLUSION
We report an infant with HDR syndrome who presented with early-onset nephrotic syndrome in China. We suggest that variants in the GATA3 gene might be associated with infant-onset nephrotic syndrome.
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.
