A Case Report of the First Filipino Infant Diagnosed with Cystic Fibrosis through the Philippine Newborn Screening Program

Authors

  • Cielito S. Almonte, MD, MHPEd Department of Pediatrics, Zamboanga City Medical Center; Ateneo de Zamboanga University School of Medicine
  • Mirasol S. Ellong, MD Department of Pediatrics, Zamboanga City Medical Center; Ateneo de Zamboanga University School of Medicine; Newborn Screening Continuity Clinic of Region IX
  • Bernadette C. Macrohonn, MD, MClinEpi, MHPEd Department of Pediatrics, Zamboanga City Medical Center; Ateneo de Zamboanga University School of Medicine

DOI:

https://doi.org/10.47895/amp.vi0.7570

Keywords:

cystic fibrosis, newborn screening, Philippines, case report

Abstract

Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time.
The inclusion of this disease in the Philippines’ Expanded Newborn Screening Program (ENBS) has provided this
Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings.

Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for
cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed.

The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.

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Published

2024-04-15

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Section

Articles

How to Cite

1.
A Case Report of the First Filipino Infant Diagnosed with Cystic Fibrosis through the Philippine Newborn Screening Program. Acta Med Philipp [Internet]. 2024 Apr. 15 [cited 2025 Apr. 4];58(6). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/7570