JOURNAL ARTICLE

Clinical profile and thiamine transporter gene (SLC19A2 and SLC19A3) variations in infants with thiamine-responsive pulmonary hypertension and acute respiratory infection.

  • Published In: Journal of Tropical Pediatrics, 2024, v. 70, n. 5. P. 1 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Shenoy, Swathi; Deekshit, Vijaya Kumar; Rao, Swathi Sunil; Ashwini, Prathibha Shankar; Shenoy, Rathika Damodara 3 of 3

Abstract

This study focuses on thiamine-responsive pulmonary hypertension (TRPHTN) in exclusively breastfed infants presenting with respiratory distress in southern India, comparing them to infants with acute respiratory infection (ARI). TRPHTN was characterized by pulmonary hypertension, lactic acidosis, cardiac failure, stridor, aphonia, and encephalopathy, with rapid improvement following parenteral thiamine administration. Genetic sequencing of the thiamine transporter genes SLC19A2 and SLC19A3 revealed no pathogenic variations, suggesting maternal nutritional deficiency rather than genetic susceptibility as the cause. The findings highlight the clinical features and utility of lactate and pulmonary pressure measurements for diagnosis in low-resource, thiamine-deficient settings where biomarker assays are unavailable.

Additional Information

  • Source:Journal of Tropical Pediatrics. 2024/10, Vol. 70, Issue 5, p1
  • Document Type:Article
  • Subject Area:Anatomy and Physiology
  • Publication Date:2024
  • ISSN:0142-6338
  • DOI:10.1093/tropej/fmae030
  • Accession Number:180119857
  • Copyright Statement:Copyright of Journal of Tropical Pediatrics is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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