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

A nineteen-month-old child presented with a febrile illness, skin rash, painful swelling of the joints, lymphadenopathy and hepatosplenomegaly. Pseudomonas was cultured from the blood during life and, subsequently, at autopsy. Autopsy revealed a generalized panarteritis involving the coronary, retroperitoneal and pulmonary arteries with thickening of arterial walls and narrowing of the lumina. Thrombi and foci of necrosis and infarcts were found in many organs. Numerous bacilli were present in fresh lesions, but not in the organizing lesions. Periodic acid-Schiff-positive deposits were found in occasional macrophages, in walls of affected vessels, in the marginal sinuses of lymph nodes and diffusely in epicardial and retroperitoneal adipose tissue. The findings suggest that some or even all cases of Kawasaki's disease and infantile polyarteritis nodosa may be caused by Pseudomonas sepsis. It is also suggested that the vasculitis and paucity of inflammatory reaction in many cases of Pseudomonas sepsis might be related to the fact that many strains of Pseudomonas produce high-molecular-weight levan (or another polysaccharide). This compound is known to inhibit the inflammatory reaction and to increase bacterial pathogenicity.
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PMID:Kawasaki's disease and infantile polyarteritis nodosa: is Pseudomonas infection responsible? Report of a case. 3 42

Diphenylhydantoin (DFH) treatment for epileptic patients has shown adverse effects such as malignant lymphadenopathy, systemic lupus erithematosus, periarteritis nodosa and recently immunological alterations such as a decreased lymphocytic response to fitohemaglutinin and serum IgA concentration, therefore we thought DFH effect on secretory IgA would be an important finding. This phenomenon might imply a defect in resistance local mechanisms for infection. Two groups of patients were studied: a) 25 children with an established diagnosis of epilepsy, "grand mal" type, that received anticonvulsive treatment with DFH for six months and b) 25 children with a diagnosis of infectious meningoencephalitis that required DFH to control convulsive crisis. Patients with a history of recurrent infections, lymphadenopathies, hepatosplenomegaly, drug allergy, collagenopathies and immunodeficiency were ruled out from this study. In all patients T and B lymphocytes, serum IgA, saliva and duodenal fluid and IgA determinations were made. Results show IgA concentration decrease in saliva and duodenal fluid of epileptic and meningoencephalitic patients (p less than 0.05), as well as lymphocyte T depression in epileptic and non epileptic patients treated with DFH (p less than 0.001).
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PMID:Effect of diphenylhydantoin in serum and secretory IgA concentrations. 677 21

Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease that was firstly described in patients with early-onset strokes, livedo reticularis, and periodic fever resembling polyarteritis nodosa. In reported case series, researchers described highly variable manifestations, including autoimmunity, immunodeficiency, hepatosplenomegaly, pancytopenia, ichthyosiform rash, and arthritis, in patients with DADA2. A thirteen-year-old female patient who was born to consanguineous parents was admitted to our hospital with generalized edema and leg pain. A physical examination revealed splenomegaly and left knee arthritis. Nephrotic-range proteinuria and hypoalbuminemia were present, and a renal biopsy revealed amyloidosis. Despite the absence of periodic fever and livedo reticularis, our patient had suggestive features of DADA2, including low serum immunoglobulin G and immunoglobulin M levels, hepatosplenomegaly, and renal amyloidosis. We found a heterozygote Met694Val mutation in the Mediterranean fever gene and a novel homozygote Thr317Argfs*25 (c.950-950delCys) mutation in the cat eye chromosome region 1 gene. A functional analysis revealed absent plasma adenosine deaminase 2 activity. Canakinumab was administered because of unresponsive proteinuria despite 2 months of treatment with colchicine and methylprednisolone. Proteinuria improved after 7 doses of canakinumab. In conclusion, DADA2 should be considered in the differential diagnosis of renal amyloidosis, particularly in the absence of homozygote Mediterranean fever mutations. Although anti-tumor necrosis factor agents are widely offered in DADA2 treatment, we speculate that canakinumab may be an appropriate treatment of renal amyloidosis in DADA2.
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PMID:Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab. 3037 39