Open Access

Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a NPHS1 variant: A case report

  • Authors:
    • Thu T. Tran
    • Vijay G. Linga
    • Mohammed A.I. Al‑Obaide
    • Daniella Bello‑Germino
    • Mehar Hoda
    • Olubukunola Adesanya
    • Tetyana L. Vasylyeva
  • View Affiliations

  • Published online on: November 16, 2021     https://doi.org/10.3892/br.2021.1487
  • Article Number: 4
  • Copyright: © Tran et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Congenital nephrotic syndrome (CNS) is an autosomal recessive disorder usually detected in the first 3 months of life when the syndromes effects manifest, including edema and a failure to gain weight. A baby boy was admitted to the Neonatal Intensive Care Unit for prematurity (35 weeks) with unremarkable maternal prenatal laboratory tests. The patient had persistent systemic hypertension, hypoproteinemia, hypoalbuminemia and nephrotic range proteinuria. CNS was diagnosed, and genetic testing showed a homozygous variant, c.3024A>G (AGA>AGG) in exon 22 of the nephrin locus. Bioinformatics analysis suggested the genetic condition was likely a result of malfunctional DNA binding sites of transcription factors FOXL1 and FOXC1.

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January-2022
Volume 16 Issue 1

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Spandidos Publications style
Tran TT, Linga VG, Al‑Obaide MA, Bello‑Germino D, Hoda M, Adesanya O and Vasylyeva TL: Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report. Biomed Rep 16: 4, 2022
APA
Tran, T.T., Linga, V.G., Al‑Obaide, M.A., Bello‑Germino, D., Hoda, M., Adesanya, O., & Vasylyeva, T.L. (2022). Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report. Biomedical Reports, 16, 4. https://doi.org/10.3892/br.2021.1487
MLA
Tran, T. T., Linga, V. G., Al‑Obaide, M. A., Bello‑Germino, D., Hoda, M., Adesanya, O., Vasylyeva, T. L."Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report". Biomedical Reports 16.1 (2022): 4.
Chicago
Tran, T. T., Linga, V. G., Al‑Obaide, M. A., Bello‑Germino, D., Hoda, M., Adesanya, O., Vasylyeva, T. L."Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report". Biomedical Reports 16, no. 1 (2022): 4. https://doi.org/10.3892/br.2021.1487