Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From 1956 through 1989, 38 men and 26 women were seen at the Mayo Clinic with biopsy-proven AA. The underlying disorder was rheumatic disease in 42, infectious disease in 11, inflammatory bowel disease in 6, and other causes in 5. All patients were symptomatic at the time of diagnosis. Fifty-eight of the 64 patients had proteinuria or renal insufficiency. Fourteen also had significant symptoms of gastrointestinal amyloid, and 6 had amyloid goiter. None of the patients had symptomatic cardiac involvement, and only 3 had palpable hepatomegaly. Renal, gastric, rectal, fat, and marrow biopsies were positive for amyloid in 100%, 94%, 82%, 58%, and 46% of tested patients, respectively. The median survival of the entire group was 24.5 months. Thirty-five of the 47 deceased patients died as a direct result of their amyloidosis, primarily from complications of renal failure. Nine were successfully treated and had regression of the disease. Two with bronchiectasis responded to long-term cyclic antibiotic therapy, as did 1 patient with osteomyelitis. One patient with inflammatory bowel disease responded to surgical resection, and 1 with familial Mediterranean fever responded to colchicine. Four patients with rheumatic disease were treated with cyclophosphamide (in 2) and methotrexate (in 2), with complete resolution of their renal disease. All 9 successfully treated patients are alive, with a median follow-up of 58 months. Statistical analysis revealed that creatinine values greater than or equal to 2.0 mg/dl (P less than 0.003) and a serum albumin value less than 2.5 g/dl (P less than 0.02) were associated with a poorer survival. The single strongest variable associated with poor survival was a serum creatinine level greater than 2 mg/dl at presentation, with a median survival of 11.2 months compared to patients with a creatinine level less than 2.0 mg/dl, with a median survival of 56.9 months.
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PMID:Secondary systemic amyloidosis: response and survival in 64 patients. 206 9

Recurrent hereditary polyserositis (RHP) or familial Mediterranean fever (FMF) is a chronic inherited illness of obscure aetiology. The disease is characterised by paroxysmal attacks of fever, peritonitis, pleuritis or arthritis, and predominantly affects Sephardic Jews, Arabs, Turks and Armenians. In this study, we report our 11-year experience of 175 Arab patients with this disease. As with other ethnic groups, the most common manifestation (93.7 per cent) was peritonitis. Arthritis (33.7 per cent) and pleurisy (32 per cent) were next in frequency. Adult patients in this series unlike those in other ethnic groups, rarely presented with arthritis. Similarly rare were amyloidosis, rashes, splenomegaly, hepatomegaly or lymphadenopathy. The aetiology of this disease is not clear but we suspect that abnormalities in catecholamine metabolism may be a factor in the pathogenesis.
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PMID:Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs--a study of 175 patients and review of the literature. 330 55

The aim of the present study was to evaluate the clinical features of childhood-onset Familial Mediterranean fever (FMF) patients and to assess the phenotype-genotype correlation. The study included patients with childhood-onset FMF that followed up over a period of 18 years in the Division of Pediatric Allergy and Immunology clinic. Twelve MEFV mutations were investigated in all patients. The patients were classified into four groups according to mutations: 1, M694V homozygote; 2, M694V heterozygote; 3, compound heterozygote for M694V; and 4, other-other gene mutation group. The following parameters were evaluated: gender, age of onset, age at diagnosis, time interval between disease onset and diagnosis, fever, abdominal pain, chest pain, arthralgia, arthritis, myalgia, vomiting, diarrhea, constipation, headache, erysipela-like erythema, protracted febrile myalgia, splenomegaly, hepatomegaly, consanguinity, number of attacks before and after treatment, severity score, response to colchicine treatment. Of the 124 patients included in the study, 105 had at least one MEFV gene mutation. M694V homozygosity was the most common mutation, followed by M694V heterozygotes and M694V-M680I compound heterozygotes. Severity score was found significantly higher in patients with M694V homozygote and compound heterozygote for M694V compared with other groups. The data supported the findings in literature that FMF patients with M694V homozygote and compound heterozygote for M694V gene mutations experience a more severe clinical course.
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PMID:The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center. 1911 56