Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Enhanced gastrointestinal absorption of dietary substances is an important feature of normal neonatal life that also exists in particular disease states such as selective IgA deficiency and atopic allergy. In these studies, it is shown that patients with hypogammaglobulinemia have increased absorption of dietary bovine antigens and that most patients have large amounts of these proteins present in the serum even after an overnight fast. The amounts of such proteins were found to be correlated with spleen size and/or peripheral lymphoid hypertrophy. Interestingly, three patients with X-linked agammaglobulinemia did not have detectable amounts of these proteins in the serum nor did they have splenomegaly or lymphadenopathy. It is speculated that hypogammaglobulinemic patients have a specific gastrointestinal mucosal lesion that permits the chronic excessive absorption of dietary antigens and may result in lymphoid hypertrophy.
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PMID:Dietary protein antigenemia in humoral immunodeficiency. Correlation with splenomegaly. 619 9

A 24-year-old female had juvenile rheumatoid arthritis since the age of 3, with systemic manifestations such as fever, polyarthralgia, micrognathia, splenomegaly, hepatomegaly, lymphadenopathy, subcutaneous nodules, hidden rheumatoid factor of IgG type. Particularly noteworthy is selective IgA deficiency in this patient, with increases in concentration up to 50 mg/dl in the serum concurrently with the repeated febrile attacks in the clinical course.
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PMID:Juvenile rheumatoid arthritis with IgA deficiency and appearance with febrile episode. 697 20

A 58 year old woman developed systemic symptoms, interstitial lung disease, splenomegaly, leukopenia and anti-histone and anti-nuclear antibodies (ANA), while treated with hydralazine for hypertension. Five months after presentation she was admitted with high fever, skin rash and atypical lymphocytosis due to acute cytomegalovirus (CMV) infection. Worsening leukopenia and increased ANA were found, and high titres of anti-DNA antibodies, anti-cardiolipin antibodies and rheumatoid factors appeared. Hydralazine was stopped and the patient gradually became asymptomatic. All autoantibodies spontaneously disappeared (over 16 weeks), and the white cell count and spleen size became normal. The patient was found to be a slow acetylator and to have both HLA-DR4 and selective IgA deficiency. Thus, a multifactorial genetic susceptibility to develop drug-induced lupus was brought out in stages first by hydralazine and then by CMV, yet all manifestations and autoantibodies resolved spontaneously, demonstrating the complex interplay of varied environmental factors with a genetic predisposition in the pathogenesis of autoimmunity.
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PMID:Effect of acute cytomegalovirus infection on drug-induced SLE. 783 Nov 73

A young patient presenting with splenomegaly and hypersplenism was inadvertently found to have selective IgA deficiency. There were no symptoms of immunodeficiency and the patient responded well to splenectomy, with return of blood counts to normal without adverse effects. No other cause for the hypersplenism was found. We postulate selective IgA deficiency as a cause of splenomegaly and hypersplenism.
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PMID:Selective IgA deficiency presenting with hypersplenism. 791 27

Four children, ages seven to ten years, with direct antiglobulin test (DAT)-positive chronic hemolytic anemia are presented. The patients were followed for 3 to 10 years. Autoantibody against red cell antigens was nonspecific IgG type in all of the patients. In one of the four patients, anemia was associated with splenomegaly and jaundice. In this patient, the third component of the complement was also detected on the red cell surface. In one patient, serum IgA deficiency and frequent pulmonary infections were associated with the disease. This patient developed rheumatoid arthritis five years after diagnosis of hemolytic anemia. The third patient initially had thrombocytopenia subsequently developed DAT-positive hemolytic anemia, vitiligo and alopecia without any evidence of serologic changes suggestive of collagen vascular disorders. In these three patients, partial response was obtained with steroid therapy. The fourth patient developed DAT-positive hemolytic anemia twice during the five year follow-up period. Anemia resolved completely with steroid therapy in two months during the first episode, and in five months in the second. Generalized and peripheral lymphadenopathies which developed at the time of the second hemolytic anemia episode have persisted for the last three years. Administration of cyclosporine in two of the four patients did not result in any amelioration of the symptoms.
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PMID:Chronic autoimmune hemolytic anemia in children: a report of four patients. 799 66

Wandering spleen is an uncommon clinical entity, which rarely affects children and adolescents. It is usually described in adults, being most common in the multiparous women of childbearing age. A case of a 14-year-old girl with a past history of splenomegaly and immunoglobulin A (IgA) deficiency, who presented with a sudden onset of abdominal pain, is presented. Diagnosis of hemoperitoneum secondary to torsion of a wandering spleen was made by computed tomography scan and Doppler ultrasound. Laparoscopy revealed hemoperitoneum owing to a ruptured and infarcted spleen. Laparotomy was undertaken and open splenectomy was successfully performed. The patient was discharged after an uneventful postoperative course that was not punctuated by any major complication. Management of this rare surgical emergency is discussed. Based on the details of this case, the authors hypothesize that IgA deficiency causes splenomegaly, which in turn predisposes to ligamentous laxity and splenic torsion.
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PMID:An unusual case of hemoperitoneum owing to acute splenic torsion in a child with immunoglobulin deficiency. 1653 64

Selective immunoglobulin A deficiency (IgAD) is a primary immunodeficiency disease characterized by low levels (< 7 mg/dl) of serum immunoglobulin (Ig) A and normal serum levels of IgG and IgM. Patients with IgAD have increased risk for recurrent respiratory and gastrointestinal infections, autoimmune disease, asthma and allergy. A 26-year-old woman was admitted with sudden onset of painful cutaneous lesions on her lower extremities, pyrexia and arthromyalgia. Her medical history was remarkable for recurrent respiratory tract infections, self-limited episodes of acute diarrhea, atopy, splenomegaly and a 4-year history of a lung granulomatous lesion. Laboratory and imaging tests ruled out severe life-threatening infection, connective tissue disease and neoplasm. Serum protein electrophoresis showed a low IgA serum level (6.67 mg/dl), with normal serum levels of IgG and IgM, conducting to a diagnosis of selective IgAD. A skin biopsy showed necrotizing vasculitis without any sign of internal organ disease. We report a patient with IgAD and granulomatous involvement of lungs, spleen and medium-sized arteries of the skin. Although IgAD results from a failure of B-cell differentiation, we propose that deregulated immune response with production of cross-reactive antibodies and hyperstimulation of T cells and macrophages could contribute to this widespread granulomatous reaction.
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PMID:Necrotizing vasculitis with a polyarteritis nodosa-like pattern and selective immunoglobulin A deficiency: case report and review of the literature. 1849 27