Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1) Geophagia characterized by, severe, anaemia, dwarfism, hypogonadism and hepatosplenomegaly is sometimes seen in young patients (and children) in Iran. 2) Haematological aspects of the syndrome are those of, severe, iron deficiency anaemia. 3) Gastric biopsies and histological findings revealed superficial or atrophic gastritis showing some resemblance to those seen in pernicious anaemia. 4) Haematological features, anaemia and many of the clinical signs of the syndrome were improved after appropriate iron therapy. 5) Histological changes of gastric mucosa improved, in 5 patients, 6 months after correction of the anaemia.
 ...
PMID:Studies on clinical, haematological aspects and pathological changes of gastric mucosa in geophagia. 123 30

In endemic hepatosplenomegaly with histopathologically proved atrophic gastritis, the gastric juice carcinoembryonic antigen (CEA) showed significant increase. Comparing this group of patients with histopathologically proved gastric neoplasia the levels were significantly higher in the later group. The level of (CEA) was only increased in 75% of cases with endemic hepatosplenomegaly and atrophic gastritis opposite to 100% of cases with gastric neoplasia. The level of serum (CEA) was also studied in patients and control groups. In patients with endemic hepatosplenomegaly and atrophic gastritis the level was insignificantly higher than the control group and significantly lower than the group with gastric neoplasia.
 ...
PMID:Evaluation of gastric carcinoembryonic antigen in endemic schistosomal hepatosplenomegaly. 223 Mar 10

A defect in the lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene is a newly defined rare cause of primary immunodeficiency diseases, which manifests as immune dysregulation and humoral immune deficiency. LRBA deficiency is a combined immunodeficiency. A boy with LRBA deficiency is described in this report. He had been diagnosed with Evans syndrome in a haematology clinic. He was referred to an immunology and allergy clinic for frequent respiratory tract infections. He also had hepatosplenomegaly but no lymphadenopathy. Immunological evaluation revealed hypogammaglobulinaemia, increased double-negative T cells, decreased memory B cells and switched B cells, and an inverted CD4/CD8 ratio. LRBA deficiency was considered due to common variable immunodeficiency-autoimmune lymphoproliferative overlap syndrome. A homozygote mutation (c.1964C>T) in LRBA was found through exome sequencing. Gastrointestinal investigation was performed due to unexplained abdominal pain. It revealed atrophic gastritis, partial villous atrophy, and multiple gallstones. There was no chronic diarrhoea or failure to thrive. The abdominal pain disappeared after a cholecystectomy. Multiple gallstones have not been reported in other LRBA-deficient patients who also had autoimmune haemolytic anaemia. Multiple gallstones that require cholecystectomy can develop in LRBA-deficient patients during adolescence.
 ...
PMID:Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation. 3187 23