# Case Report: Autoimmune hepatitis in a patient with pseudohypoaldosteronism type 1—insights into a rare co-occurrence

## TL;DR

A 1-month-old infant with pseudohypoaldosteronism type 1 also developed autoimmune hepatitis, suggesting a possible link between these rare conditions.

## Contribution

This case report highlights the rare co-occurrence of pseudohypoaldosteronism type 1 and autoimmune hepatitis in an infant.

## Key findings

- The patient had PHA type 1 caused by an SCNN1A mutation and was later diagnosed with autoimmune hepatitis.
- The coexistence of these conditions may indicate a shared pathological mechanism.
- Treatment included sodium supplements, prednisolone, and azathioprine.

## Abstract

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, which vary in presentation and severity.

Our patient presented at the age of 1 month with fever and vomiting, electrolyte disturbances, hyponatremia, hyperkalemia, and metabolic acidosis. The infant was later diagnosed with PHA type 1 caused by a mutation of SCNN1A, and she had persistent elevation of liver enzymes, for which she was diagnosed with autoimmune hepatitis. She was initially treated with sodium supplements, sodium bicarbonate, and ion exchange resin (calcium polystyrene sulfonate); 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 who was diagnosed with autoimmune hepatitis. The coexistence of these two conditions could highlight a potential shared pathological pathway. Further research into the genetic and immunological links between these rare disorders is warranted.