Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial Mediterranean fever is an autosomal recessive hereditary disease characterised by recurrent fever, poliserositis, chest and/or abdominal pain. Up to date diagnosis is based on clinical symptoms, familial anamnesis and response to colchicine. It is an inflammatory reaction affecting serosal tissues but until recently different hypotheses have been suggested to explain the greatly increased chemotactic activity of the polymorfonuclear leucocytes. Identification of the function of the MEFV gene on chromosome 16 and its protein allows us to understand the pathogenesis of familial Mediterranean fever as well as provides a new diagnostic test and therapeutic measures. We describe a case of an young patient and review the literature.
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PMID:[Familial Mediterranean fever: report of a case]. 1121 79

The recent discovery of the mutated gene responsible for Familial Mediterranean Fever (FMF) is supposed to facilitate its diagnosis which up till now is a clinical one because there are no specific laboratory tests. The sensitivity of genetic testing is limited because these tests search only for known mutations. In this case report we describe a patient with periodic abdominal pain in whom the diagnosis of FMF was wrongly discarded because of lack of a durable effect of colchicine and negative genetic testing. Diffuse peritoneal inflammation was nicely demonstrated by a FDG-PET (fluoro-deoxy-glucose positron-emission tomography) performed during a typical crisis. We discuss the possible diagnostic pitfalls and conclude that a crisis-PET might upgrade the level of diagnostic certainty in equivocal cases.
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PMID:Progressive bouts of acute abdomen: pet the peritoneum. 1130 83

Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by episodes of fever with abdominal pain, pleurisy, or arthritis. The familial Mediterranean fever gene, designated MEFV, was recently cloned, and the missense mutation M694V accounting for most of the patients with this disease was identified. The objective of the present study was to establish frequencies of the M694V mutation in three groups of Jews. The subjects studied were 381 Sephardi, 256 Ashkenazi, and 65 Oriental Jews, all male subjects, previously collected for an anthropological study, independent of their FMF status. The M694V mutation in the 702 samples was assessed by amplifying genomic DNA with the use of primers that selectively amplify the normal or altered DNA sequence of the M694V mutation, by the amplification refractory mutation system (ARMS). In our sample of Sephardi Jews, the frequency of the M694V mutation is elevated (10.9%), and this is also the case for Oriental Jews (9.2%). In our sample of Ashkenazis, the M694V allele frequency is very low (0.8%).
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PMID:Study of the mutation M694V of familial Mediterranean fever in Jews. 1133 2

Of 59 Sephardic Jewish and Arab children in whom functional abdominal pain was diagnosed, we found that 20% were homozygote for the familial Mediterranean fever gene. Inclusion of genetic screening for familial Mediterranean fever may be advisable in the investigation of recurrent abdominal pain among children of Mediterranean extraction.
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PMID:Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. 1134 58

Familial Mediterranean fever is a rare disease characterized by cyclic attacks of fever, serositis and strong family background. Here we report a 22-year-old man who suffered from recurrent fever accompanied by chest and abdominal pain for more than 10 years. The attack frequency was about once per 2-3 weeks. Although he consulted many clinics and even received appendectomy at the age of 15, no definite diagnosis was given. During the admission, many laboratory examinations failed to show any abnormality except mild leukocytosis and elevated C-reaction protein. Image studies including chest X ray and abdominal CT scan showed negative result but, interestingly, Gallium-67 scan showed a hot spot in right lower chest and right lower abdomen. After prophylaxis with colchicine 1.0 mg per day, he has enjoyed more than 2 years without the above symptoms.
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PMID:Familial Mediterranean fever in a Taiwanese patient. 1148 33

Familial Mediterranean fever (FMF) is a genetic disorder characterized by acute episodes of fever with some combination of severe abdominal pain, pleurisy, arthritis, and skin rash. The case of a patient with recurrent urticaria referred for study of drug allergy is presented. After allergy had been ruled out, the urticaria was attributed to previously undiagnosed symptoms of an underlying systemic disease: FME. Urticaria is the least frequent cutaneous manifestation of this disease, and genetic analysis was required to confirm the diagnosis.
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PMID:Recurrent urticaria as a rare manifestation of familial Mediterranean fever. 1210 34

We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial Mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allogeneic, sibling bone marrow transplantation (BMT). During conditioning for her BMT, symptoms of FMF, including splenomegaly, arthritis, and recurrent abdominal pain, began to resolve and she was gradually weaned off colchicine. Now, 2 years after the transplantation, she remains free from FMF symptomatology and is off all immunosuppressants. This case demonstrates that symptoms of FMF can be alleviated by the therapy used during allogeneic BMT. In this patient it is likely that the missing factor in FMF is now being provided by granulocytes derived from the stem cells within transplanted bone marrow.
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PMID:Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. 1281 18

Crohn disease and familial Mediterranean fever (FMF) are inflammatory diseases characterized by abdominal pain and fever. The concurrence of the 2 diseases (FMF-CD) may pose a challenge to diagnosis and treatment. We undertook the present study to determine the prevalence of Crohn disease in FMF and to characterize FMF-CD patients clinically and genetically. Using a computerized search, the patients of our FMF clinic were screened for a concomitant diagnosis of Crohn disease. Patients and their medical records were thoroughly examined, and their DNA was genotyped for mutations in the MEFV gene. Control groups of ethnically and sex-matched patients suffering from each of the diseases alone, either Crohn disease or FMF, were used for comparison. We identified 7 patients with concomitant Crohn disease and FMF, which is more than the expected prevalence in the general population (p = 0.03). Crohn disease presented at a significantly later age in the FMF-CD group (40.6 +/- 10.0 yr versus 26.2 +/- 11.4 yr; p < 0.004). Disease severity and other characteristics of Crohn disease were comparable to the Crohn disease control group. Contrary to the FMF control group patients, FMF in FMF-CD patients was characterized by a higher attack frequency (p < 0.05) and increased prevalence of amyloidosis (p < 0.02). The overall severity score was similar in both groups. In conclusion, Crohn disease appears to be more prevalent in FMF and presents later than in patients without FMF. FMF in this group of patients shows a higher attack frequency and is more often complicated by amyloidosis.
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PMID:Crohn disease in patients with familial Mediterranean fever. 1244 97

Familial Mediterranean fever (FMF) is characterized by an autosomal inheritance pattern, Mediterranean ancestry, and history of recurrent fever. We present a 30-year-old Turkish man with FMF and accompanying seronegative spondyloarthropathy. His diagnose depended on the clinical course of his disease: recurrent fever accompanied by abdominal pain attacks together with a positive family history and his ethnic origin and sacroiliitis. We review the common manifestations of FMF and remind physicians that sacroiliac joint involvement must be kept in mind in presence of articular symptoms in a FMF patient.
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PMID:Seronegative spondyloarthropathy of familial Mediterranean fever. 1261 76

A 42-year-old familial Mediterranean fever (FMF) patient who was treated with cisplatin-based chemotherapy for adenocarcinoma of the lung developed severe and frequent attacks of FMF during treatment. Abdominal pain, arthralgia and fever occurred for a few days following each cisplatin cycle. His FMF worsened, the abdominal pain and fever lasted longer and treatment with colchicine was ineffective. It has been hypothesized that the link between cisplatin treatment and FMF attacks lies in an increased production of serotonin, IL-6, IL-1, IL-8 and TNF-alpha. These inflammatory cytokines have been reported to be overproduced during cisplatin treatment and are known to play an important role in FMF relapse. The oncologist should be made aware of the possibility of disease aggravation in FMF patients during cisplatin-based chemotherapy.
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PMID:Cisplatin treatment triggers familial Mediterranean fever attacks. 1272 67


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