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Objectives Salt wasting crisis is a life-threatening emergency that requires urgent intervention.1 In the neonatal period, the triad of electrolyte derangement (hyperkalemia and hyponatremia), metabolic acidosis, and hypovolemic shock occur secondary to several pathologies, including congenital adrenal hyperplasia (CAH), hypoadrenalism, isolated aldosterone deficiency, nephrotoxic medication, and pseudohypoaldosteronism (PHA).1 Differentiating between these conditions is prudent due to the implications on management. However, the process remains cumbersome due to the significant overlap in the presentation and the lengthy laboratory turnaround time. 2 PHA type 1 is a rare heterogeneous syndrome with an incidence of 1:47000.2 Pathogenesis is characterized by resistance to aldosterone.2 Two subtypes exist: transient and genetic.1 Methods Here, we report the case of an 18-day-old neonate who presented with vomiting, lethargy, and reduced feeding. Physical examination revealed a hemodynamically unstable neonate who was lethargic, pale, and mottled-looking with a prolonged capillary refill time. Of note, he had normal male genitalia. Results Laboratory investigations revealed hyperkalemia, hyponatremia, and elevated aldosterone and cortisol in the context of a urinary tract infection. The initial impression was that of transient pseudohypoaldosteronism. Despite the resolution of his urinary tract infection, his aldosterone level remained elevated. Therefore, genetic testing was sought, which revealed a novel mutation in his mineralocorticoid receptor gene, confirming the diagnosis of renal PHA type 1. Conclusion PHA is uncommon and can masquerade as several different pathologies. Increasing awareness about this condition is prudent as it can present as a life-threatening emergency. The novel mutation described will contribute to the available genetic database. References Babar GS, Tariq M. Challenges of Diagnosing Pseudohypoaldosteronism (PHA) in an Infant. Case Reports in Endocrinology 2022 Jul 11;2022. Amin N, Alvi NS, Barth JH, Field HP, Finlay E, Tyerman K, Frazer S, Savill G, Wright NP, Makaya T, Mushtaq T. Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinology, Diabetes 2013.
Yousef et al. (Tue,) studied this question.