Article

Renal pseudohypoaldosteronism type 1 – an adult case series including a novel gene variant

2024-09-16

Abstract excerpt

<title>Abstract</title> <p>Purpose Renal pseudohypoaldosteronism type 1 (PHA1) is a rare disease affecting infants. Symptoms are failure to thrive, vomiting and weight loss. It is caused by gene variants in <italic>NR3C2</italic> by which the mineralocorticoid receptor is dysfunctional, and patients develop hyponatremia, elevated plasma aldosterone and renin but have normal blood pressure. Little is known about...

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Literature Corpus work: dd6bb646-bfe0-5fa3-abc1-c6f31b9655c1
DOI: 10.21203/rs.3.rs-4925132/v1

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