Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The coexistence of adrenal failure with either autoimmune thyroid disease and/or type 1 diabetes is defined as autoimmune polyglandular syndrome (APS) type 2 or Schmidt's syndrome. Vitiligo, hypergonadotropic hypogonadism, chronic autoimmune hepatitis, alopecia, pernicious anaemia and seronegative arthritis may also be present. We present a case of 45-year-old Indian man with progressive jaundice and asthenia for 3 months. He was also found to have pallor, icterus, dry coarse skin and delayed relaxation of ankle jerk. Investigations showed pancytopaenia with megaloblastic changes due to pernicious anaemia, autoimmune hypothyroidism and autoimmune adrenalitis with evolving adrenal insufficiency. Upper gastrointestinal endoscopy guided biopsy showed evidence of gastric mucosal atrophy. Patient responded well to hydroxocobalamin and thyroxine replacement. Detailed workup to check for evolving APS II is prudent in a hypothyroid patient presenting with pallor and jaundice. It may alert physicians to possible adrenal crisis in the future, especially after starting levothyroxine replacement in these patients.
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PMID:Jaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II. 3096 12

Objective To evaluate the prevalence of autoimmune gastritis in patients with histologically proven nonalcoholic steatohepatitis (NASH). Methods A total of 33 patients with NASH and 143 patients with chronic liver disease (66, 24, 22, 10, 1, and 21 patients with hepatitis C, hepatitis B, autoimmune hepatitis/primary biliary cholangitis, non-B/non-C hepatitis, fatty liver, and alcoholic disease, respectively) who underwent upper gastrointestinal endoscopy between January 2013 and August 2016 were retrospectively assessed to determine the prevalence of autoimmune gastritis. The clinical characteristics of these patients with NASH and autoimmune gastritis were examined, and the clinical characteristic and biomarkers were compared between patients with NASH with and without autoimmune gastritis. Results Six of the 33 patients with NASH (19.4%) were diagnosed with autoimmune gastritis. The prevalence of autoimmune gastritis was higher in patients with NASH than in those with other chronic liver diseases [4/143 (2.8%), p=0.002]. All six patients with NASH and autoimmune gastritis exhibited high serum gastrin levels; five of the patients were positive for anti-parietal cell antibodies, and one was negative for anti-parietal cell antibodies but positive for intrinsic factor antibody. Furthermore, 1 patient presented with iron-deficiency anemia (hemoglobin <11 g/dL), but none developed pernicious anemia. Endocrine cell micronests were found in four patients. Patients with NASH and autoimmune gastritis tended to be older with lower ferritin levels than the other patients. Conclusion The prevalence of NASH with concomitant autoimmune gastritis was high, highlighting the need for upper endoscopy for the diagnosis of autoimmune gastritis and gastric malignancies.
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PMID:High Prevalence of Autoimmune Gastritis in Patients with Nonalcoholic Steatohepatitis. 3129 80

Hypoxic hepatitis or ischemic hepatitis is most commonly encountered in critical care patients, most of whom have shock states secondary to cardiac or respiratory failure. We report a case of severe pernicious anemia predisposing to hypoxic hepatitis that had a good prognosis with simple treatment. Care should be taken in management of severe anemia, interpretation of serum vitamin B12 levels after blood transfusion, and the use of intravenous fluids.
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PMID:Severe Pernicious Anemia Predisposing to Hypoxic Hepatitis. 3161 31

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (polyglandular endocrinopathy type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). The major clinical features of APECED are hypoparathyroidism, adrenal insufficiency (Addison disease), and chronic mucocutaneous candidiasis. This disease is also associated with multiple other and uncommon autoimmune (autoimmune hepatitis, autoimmune enteropathy, atrophic gastritis with or without pernicious anemia, gonadal failure, diabetes mellitus, hypothyroidism, functional hyposplenism), ectodermal (alopecia and vitiligo), and inflammatory (intestinal lung disease, nephritis) features. Here, we report a case of a 13-year-old Turkish boy who presented wih enteropathy and lung abscess. Molecular genetic analysis demonstrated a homozygous frameshift mutation (p.Asp70fs, c.208_209insCAGG) in exon 2, in AIRE gene. APECED may present with severe, life-threatening infections due to functional hyposplenism. Multidisciplinary approach, careful follow-up, and molecular genetic studies are needed.
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PMID:A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess. 3328 51


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