CASE REPORT article
Front. Pediatr.
Sec. Pediatric Pulmonology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1619722
Case report: Hydroxychloroquine in an infant with NKX2-1-associated interstitial lung disease
Provisionally accepted
- Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
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This study presents a case of brain–lung–thyroid syndrome caused by a pathogenic variant in 11 NKX2-1 gene, which is characterized by interstitial lung disease. A 7-month-old female infant was 12 hospitalized for over half a month for cyanosis. The full-term infant developed respiratory distress 13 syndrome soon after delivery, requiring mechanical ventilation, and was diagnosed with congenital 14 hypothyroidism. In the first seven months of life, the infant also showed hypotonia, feeding 15 difficulties, and developmental delays. Chest CT findings demonstrated generalized ground-glass 16 opacities in both lung fields. A heterozygous pathogenic variant of the NKX2-1 gene 17 (NM_001079668.3:c.583C>T (p.Arg195Trp)) was identified by whole-exome sequencing. The infant 18 received a combination therapy, comprising supplementary thyroxine, nutritional support, high-flow 19 nasal cannula oxygen therapy, and exploratory treatment with hydroxychloroquine. High-flow nasal 20 cannula oxygen therapy was administered after discharge. The patient was followed up for over 2 21 months, and the patient had changed to low-flow oxygen therapy, although she developed 22 radiographic progression. Studies on hydroxychloroquine for the treatment of interstitial lung 23 diseases are limited. This article describes a case of interstitial lung disease caused by a pathogenic 24 variant in the NKX2-1 gene, whose oxygen demand decreased after treatment with 25 hydroxychloroquine.
Keywords: Interstitial Lung Disease, NKX2-1 gene, brain-lung-thyroid syndrome, Hydroxychloroquine, Infant
Received: 22 May 2025; Accepted: 22 Sep 2025.
Copyright: © 2025 Qing, XU, Shi, Fan, Zhang, Yang and Lu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: XUEHUA XU, 208854408@qq.com
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