Autoimmune hepatitis

Chronic autoimmune hepatitis (AIH) is a rare progressive inflammatory disorder of unknown cause primarily affecting women and associated with circulating autoantibodies, elevated transaminase levels, and increased levels of immunoglobulin.

Hypoparathyroidism

A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.


Total: 3

                       


(per page)
PMID (PMCID)
19209622
 MIXED_SAMPLE
Novel homozygous AIRE mutation in a German patient with severe APECED.
von Schnurbein J, Lahr G, Posovszky C, Debatin KM, Wabitsch M.
J Pediatr Endocrinol Metab. 2008;21(10):1003-9.
We report here a German girl with rheumatoid factor positive arthritis, chronic mucocutaneous candidiasis, autoimmune hepatitis, chronic diarrhea, vitiligo, hypothyroidism, hypoparathyroidism, and adrenal failure who is homozygous for a novel mutation at the end of exon 3 of the AIRE gene (c.462G>A), within the conserved splice donor sequence.
16792967
 FEMALE Child
[AIRE gene mutation in polyglandular syndrome type 1].
Martinez Lopez MM, Gonzalez Casado I, Alvarez Doforno R, Delgado Cervino E, Gracia Bouthelier R.
An Pediatr (Barc). 2006;64(6):583-7.
The second patient was a 17-year-old girl with autoimmune hepatitis, hypoparathyroidism, mucocutaneous candidiasis, nail dystrophy, and obliterating bronchiolitis with a probable autoimmune origin.
16792967
 FEMALE Child
[AIRE gene mutation in polyglandular syndrome type 1].
Martinez Lopez MM, Gonzalez Casado I, Alvarez Doforno R, Delgado Cervino E, Gracia Bouthelier R.
An Pediatr (Barc). 2006;64(6):583-7.
The first patient was an 11-year-old girl with hypoparathyroidism, infectious or immunological malabsorption, and autoimmune hepatitis.