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2024, Vol: 24, Issue: 2
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Case Report
Online Published: 05 Dec 2024
 


Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant

Zakaria Barsoum.


Abstract
Pseudohypoaldosteronism (PHA) is a rare disorder which mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis. Molecular genetic testing may confirm the diagnosis. We present a twelve-day old boy who presented with salt losing and dehydration, initially thought to be CAH which was later confirmed biochemically to be PHA type 1, and eventually genetic testing revealed the presence of the novel heterozygous NM_000901.5(NR3C2):c.1876T>G (p.(Phe626Val)) variant in the infant and in his father. Interestingly, the father had asymptomatic hyperaldosteronism. We classified NM_000901.5(NR3C2):c.1876T>G as likely pathogenic according to the American College of Medical Genetics and Genomics criteria. Functional validation and/or identifying more patients with NM_000901.5(NR3C2):c.1876T>G are necessary to corroborate the pathogenicity of the variant.

Key words: Pseudo-hypoaldosteronism (PHA); NR3C2 gene; NM_000901.5:c.1876T>G (p.(Phe626Val))


 
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Pubmed Style

Zakaria Barsoum. Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant. Sudan J Paed. Online First: 05 Dec, 2024. doi:10.24911/SJP.106-1671202254

Web Style

Zakaria Barsoum. Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant. https://sudanjp.com//?mno=107812 [Access: December 06, 2024]. doi:10.24911/SJP.106-1671202254

AMA (American Medical Association) Style

Zakaria Barsoum. Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant. Sudan J Paed. Online First: 05 Dec, 2024. doi:10.24911/SJP.106-1671202254


Vancouver/ICMJE Style

Zakaria Barsoum. Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant. Sudan J Paed, [cited December 06, 2024]; Online First: 05 Dec, 2024. doi:10.24911/SJP.106-1671202254


Harvard Style

Zakaria Barsoum (2024) Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant. Sudan J Paed, Online First: 05 Dec, 2024. doi:10.24911/SJP.106-1671202254


Turabian Style

Zakaria Barsoum. 2024. Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant. Sudanese Journal of Paediatrics, Online First: 05 Dec, 2024. doi:10.24911/SJP.106-1671202254


Chicago Style

Zakaria Barsoum. "Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant." Sudanese Journal of Paediatrics Online First: 05 Dec, 2024. doi:10.24911/SJP.106-1671202254


MLA (The Modern Language Association) Style

Zakaria Barsoum. "Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant." Sudanese Journal of Paediatrics Online First: 05 Dec, 2024. Web. 06 Dec 2024 doi:10.24911/SJP.106-1671202254


APA (American Psychological Association) Style

Zakaria Barsoum (2024) Neonatal Pseudo-hypoaldosteronism (PHA) type 1 with a novel NR3C2 gene variant. Sudanese Journal of Paediatrics, Online First: 05 Dec, 2024. doi:10.24911/SJP.106-1671202254




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