Case Report: Autoimmune hepatitis in a patient with Pseudohypoaldosteronism type 1, insights into a rare co-occurrence

Hanan Al-Thiabat ^1* Israa waleed khalid ¹ Rafeef Abdel Razzaq ¹ Kamleh Barham ¹ Hanaa M Algharaibeh ¹ Jafar Alsheyyab ² Eyad Altamimi ¹

• ¹ Department of Pediatrics and Neonatology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan
• ² Faculty of Medicine, Hashemite University, Zarqa, Zarqa, Jordan

Background: Pseudohypoaldosteronism (PHA) type 1 is a rare disease characterized by an end organ unresponsiveness to mineralocorticoids, which results in salt loss from the kidney and impaired potassium and hydrogen secretion. It is subdivided into two main types: renal PHA and systemic PHA that varies in presentation, and severity Case report: Our patient was presented at the age of 1 month with fever and vomiting, electrolyte disturbances, hyponatremia, hyperkalemia and metabolic acidosis. Diagnosed with PHA type 1 caused by a mutation of SCNN1A, later on, she had persistent elevation of liver enzymes for which she was diagnosed with autoimmune hepatitis. She initially was treated with sodium supplements, sodium bicarbonate, and ion exchange resin (calcium polystyrene sulfonate), then subsequently prednisolone and azathioprine were added.We report a unique clinical presentation involving a patient who was diagnosed at the age of 1 month with PHA type 1 caused by a mutation of SCNN1A, and then she was diagnosed with autoimmune hepatitis. The coexistence of these two conditions could highlights a potential shared pathological pathway. Further research into the genetic and immunological links between these rare disorders is warranted