Key result
Novel NR3C2 mutation causes refractory pseudohypoaldosteronism type 1 with failure to thrive in a neonate.
Why the study?
Autosomal dominant pseudohypoaldosteronism type 1 caused by NR3C2 mutations often leads to life-threatening neonatal electrolyte imbalances, with limited data on novel mutations and clinical associations.
Case Report (n=1)
Identifies a novel NR3C2 missense mutation causing pseudohypoaldosteronism type 1 and highlights its association with failure to thrive despite adequate treatment.
Novel NR3C2 variant expands PHA1 mutation spectrum; leaves open its role in refractory failure to thrive and should not change practice.
BACKGROUND/AIMS: Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period. We report a novel mutation in the NR3C2 gene, and report, for the first time, the association of well-treated pseudohypoaldosteronism with failure to thrive. This report additionally highlights the importance of aldosterone-sensitive sodium transport in the neonatal period. PATIENT AND METHODS: The patient presented with salt loss, hyperkalemia and a mild metabolic acidosis in the neonatal period (day of life 8). Further evaluation revealed significantly elevated levels of 18-hydroxycorticosterone, aldosterone and plasma renin activity, suggesting the diagnosis of pseudohypoaldosteronism. RESULTS: Analysis of the patient's NR3C2 gene revealed a novel missense mutation (c.1817G>C), which was subsequently analyzed in his parents and sister. Interestingly, the patient's mother was found to have an identical mutation. CONCLUSION: We report a novel mutation in the gene for the mineralocorticoid receptor and an unusual clinical course of pseudohypoaldosteronism type 1 in an adequately treated patient.
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Loomba‐Albrecht et al. (2010) conducted a case report in Pseudohypoaldosteronism type 1 (n=1). NR3C2 gene mutation (c.1817G>C) was evaluated on Identification of genetic mutation and clinical course. A novel missense mutation (c.1817G>C) in the NR3C2 gene was identified in a neonate with pseudohypoaldosteronism type 1, who presented with failure to thrive despite adequate treatment.
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