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

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 <i>SCNN1A</i> 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.

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Publication Details

Journal
Frontiers in Pediatrics
Published
2025-04-15
DOI
https://doi.org/10.3389/fped.2025.1558179
Primary Topic
Ion Transport and Channel Regulation
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Jafar Alsheyyab, Hanan Al Thiabat, Hanaa M Algharaibeh, Eyad Altamimi et al.
Frontiers in Pediatrics
Ion Transport and Channel Regulation
article

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

Jafar Alsheyyab, Hanan Al Thiabat, Hanaa M Algharaibeh, Eyad Altamimi, Rohail Razzaq, Kamleh Barham, Israa Waleed Khalid
article en

Abstract

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 <i>SCNN1A</i> 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.

Frontiers in PediatricsVol. 13
Hashemite University (JO), King Abdullah University Hospital (JO)
Good health and well-being
Openalex Percentile: Top 93%
Ion Transport and Channel Regulation
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