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 quite prevalent among Arabs. We reviewed the files of 56 patients diagnosed with familial Mediterranean fever and followed up at King Hussein Medical Centre in Jordan over 4 years for their clinical profile, course, genotype, treatment and complications. There were 30 males and 26 females with a mean age at onset of 5.2 years. Abdominal pain (79%) was the commonest manifestation, followed by arthritis (13%) and chest pain (4%). Family history was positive in 50% of patients. Regarding treatment, 97% of patients responded well to colchicine, and amyloidosis was not documented in any patients after 5 years follow-up. The commonest genotype was M694 (64%), followed by heterozygous M694V-V726A (23%) and E148Q (8%).
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PMID:Familial Mediterranean fever in children: a single centre experience in Jordan. 1733 28

Familial Mediterranean fever (FMF) is the most common of a rare group of disorders collectively termed familial hereditary periodic fever syndromes, also known as autoinflammatory syndromes. FMF is clinically characterized by intermittent bouts of fever with peritonitis and abdominal pain, pleuritis, arthritis, or erysipelas-like rashes. Amyloidosis due to chronic inflammation progressing to renal failure is one of the most serious potential complications of this disease. Individuals with FMF have identifiable genetic defects in the Mediterranean fever (MEFV) gene, which codes for the protein pyrin. Pyrin normally blunts neutrophil-mediated inflammation, likely via interleukin-1 (IL-1) downregulation, but is defective in FMF. Potential treatments include colchicine, with case reports of benefits with catecholamine blockade (prazosin), tumor necrosis factor (TNF) antagonism (etanercept, thalidomide), and IL-1 receptor blockade (anakinra).
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PMID:Genetics and new treatment modalities for familial Mediterranean fever. 1791 35

Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean fever (MEFV) gene is localized on 16p13.3 and more than 35 mutations have been described to date. There are some differences in the gene mutations of FMF in the various ethnic groups. The aim of this study is to determine the frequency of the mutations which has been reported comparatively rare, to define the most effective mutation set, and to select the most suitable DNA analysis system for Turkish FMF patients. Mutations in 330 Turkish FMF patients with typical phenotypes from various regions of Turkey were evaluated for the research purposes. These patients were analyzed for six MEFV gene mutations by the NanoChip Molecular Genetics Workstation. The most frequent mutation was M694V, identified in 50.00% of the alleles examined; M680I followed with 14.10% and V726A--9.70%. Consequently, we determined that R761H (n = 23; 3.48%) was the most frequent rare mutations in Turkish FMF patients. Frequency of the rare mutations were R761H (3.48%), E148Q (1.36%), and M694I (1.21%). All of these mutations were in the compound heterozygote state. Our study showed that R761H mutations were higher than it has been reported in literature until now and were mainly associated with M694V. We suggest that mutation R761H should be included in the mutation scanning analysis researches or considered if the patient has M694V/? mutation especially in Turkish FMF patients. Larger serial studies need to be done to investigate the rate and coexistence of these mutations.
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PMID:A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients. 1800 Jun 97

A 14-year-old girl was diagnosed with familial Mediterranean fever (FMF) with homozygous for M694V mutation of the MEFV gene and was started on colchicine therapy 4 years before admission to our hospital. She was uncompliant to therapy and was admitted to a local hospital with complaining of fever, malaise, abdominal pain and artralgia lasting for 2 months. Multiple hypoechogenic mass lesions were detected on liver and kidneys with ultrasonography (US) and diagnosed to be hematomas by laparoscopic examination. She was referred to our hospital because of development of convulsions. On physical examination her blood pressure was 140/90 mmHg and body temperature was 39 degrees C. She was pale and extremely cachectic, with atrophic muscles of the extremities. She had diffuse abdominal tenderness and hepatosplenomegaly. Laboratory investigations revealed a hemoglobin of 9.8 g/dl, white blood cell count 9,900/mm3, platelets 213,000/mm3, erythrocyte sedimentation rate (ESR) 112 mm/h, C- reactive protein (CRP) 78 mg/L (normal < 2 mg/L) and fibrinogen 500 mg/dl. Electrolytes, renal and hepatic functions and urinalysis were normal. Examinations of peripheric blood smear and bone marrow aspiration were normal. X-rays of bones and chest showed no pathological finding. Protrombine, partial thromboplastine and bleeding times were normal. Bacterial cultures of blood, urine and stool grew no organisms. Serological tests for hepatitis B and C, cytomegalovirus, salmonella and brucella were negative.
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PMID:Multiple visceral hematomas in a child with familial Mediterranean fever: polyarteritis nodosa. 1818 27

Vascular endothelial growth factor (VEGF) is a cytokine that promotes endothelial cell proliferation, leucocyte chemotaxis and expression of adhesion molecules and is a major mediator of vascular permeability. It has been demonstrated that VEGF directly activates neutrophils and it could promote acute recruitment of leucocytes. It is known that neutrophils are the major cell population involved in acute inflammation in familial Mediterranean fever (FMF) and the role of VEGF in these cells may be crucial. The aim of this study was to investigate whether the 936 C/T functional polymorphism of the VEGF gene is associated with susceptibility to FMF and its relationship with the main clinical features of the disease. Polymerase chain reaction-restriction fragment length polymorphism technique was used to determine 936 C/T polymorphism within the VEGF gene in 75 patients with FMF and 122 non-related healthy controls. Genotype and allele frequencies of the VEGF 936 C/T polymorphism between patients with FMF and healthy control groups were not significantly different (OR = 0.74, 95% CI = 0.40-1.37, P = 0.335 for CT genotype; OR = 1.11, 95% CI = 0.67-1.83, P = 0.700, for T allele). Although VEGF 936 TT genotype was found to be more frequent in patients with FMF than in healthy controls (6.7% vs. 1.6%, respectively), the difference was not significant (OR = 4.28, 95% CI = 0.81-22.67, P = 0.108). No associations were found between the studied polymorphism and either the clinical features such as arthritis, abdominal pain, pleuritis, myalgia, arthralgia and erysipelas-like erythema of the disease or the four common studied exon 10 mutations (M694V, M680I, V726A, M694I) of the Mediterranean fever gene. Present results suggest that VEGF gene 936 C/T polymorphism does not seem to be associated with susceptibility to FMF and its clinical manifestations.
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PMID:Analysis of vascular endothelial growth factor gene 936 C/T polymorphism in patients with familial Mediterranean fever. 1818 98

Familial Mediterranean fever (FMF) and celiac disease (CD) shares some clinical features such as abdominal pain, diarrhea, arthralgia, and arthritis. Furthermore, both diseases are related to several inflammatory disorders. Based on these analogies, we have investigated whether there is any relationship between CD and FMF. The study had two groups. Group I: 50 children with FMF were questioned and examined for the evidence of CD, serum immunoglobulin A (IgA) levels, antigliadin antibodies (AGA) IgA, AGA IgG, and anti-endomysial antibodies (EMA) IgA were tested, and intestinal biopsy was performed when necessary. Group II: 17 children with CD were evaluated for the presence of clinical and laboratory features of FMF and mutation analysis for MEFV gene was performed to all of them. Six predominant mutations (p.M694V, p.M680I, p.M694I, p.V726A, p.K695R, p.E148Q) in the MEFV gene were studied. The results were as follows-group I: three patients had diarrhea, six had abdominal pain, one had positive AGA IgA, six had AGA IgG, and one had EMA IgA. Intestinal biopsy was performed in one patient who was normal, so none of the patients with FMF were diagnosed as CD and group II: none of the patients with CD had complaints consistent with FMF. Four of the 17 patients (23.5%) were found to carry MEFV mutations. Three of them had heterozygous p.E148Q mutation and one of them had heterozygous p.M680I mutation. None of the FMF patients had CD. MEFV mutation frequency in patients with CD was similar to the normal population in Turkey. Our study did not reveal any association between CD and FMF.
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PMID:Is there an association between familial Mediterranean fever and celiac disease? 1835 29

Familial Mediterranean fever (FMF), which is the prototype of the hereditary periodic fever syndromes, is common in the countries around the Mediterranean Sea. Considering its geographical position in the northwest of Iran, with its population of Turkish origin and its vicinity to the Mediterranean Sea, th incidence of FMF should be high in Ardabil. The goal of this study was to introduce FMF as a disease with significant outbreak in this area. Based on the Tel-Hashomer criteria, patients suffering from FMF were collected from private clinics together with the medical records of adult and pediatric rheumatology clinics. Of 112 total patients determined, 74 were studied. All of the patients were interviewed and completed a questionnaire. Familial Mediterranean fever was common among children under 18 years (76%), and it was more common in males than females (M/F 1.17). Abdominal pain was the most common complaint (74%) and abdominal pain and fever (95% and 84%, respectively) were the main clinical symptoms. The average duration of pain was 12-72 hours and the average recovery (attack-free period) was from one week to one month (63.5%). The majority of the patients had hospital admission for diagnostic work-up (85%) and some (32%) ha undergone surgical operation erroneously; 92% of the patients had taken medications with incorrect diagnosis; and 20% had positive familial history of FMF. Fifty percent of the patients' parents were first-degree relatives an in 59.5% delay in diagnosis was more than three years. It seems that FMF is more common in the Northwest of Iran than previousl thought, although physicians are not familiar with it. The common age for manifestation of this disease is under 18 years and its presentation after the age of 40 years is very rare.
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PMID:Familial Mediterranean fever in northwest of Iran (Ardabil): the first global report from Iran. 1836 90

Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder characterised by recurrent and self-limited abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible from the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. MEFV gene contains 10 exons and most of the mutations have been found on the last exon. Up to date, 152 mutations and polymorpisms have been reported inwhere V726A, M694V, M694I, M680I and E148Q are the most common mutations. In this study, MEFV allele frequencies of 136 individuals (60 from Pediatry, 76 from Internal Medicine) have been evaluated, and compared with each other. Asymptomatic individuals with FMF family history (4 from Pediatry, 6 from Internal Medicine) were excluded from the analysis. The prominent mutations indicated in the Pediatry group are V726A, M694V and M680I (G/C) and with the allele frequency of 0.06, 0.05 and 0.04 respectively while they were E148Q, M694V, M680I (G/C) in the Internal Medicine group with the allele frequency of 0.12, 0.08 and 0.04. The E148Q mutation is significantly overrepresented in the adult referrals (P = 0.02). Mutation on both alleles was observed in only 12% of cases. Overall mutation frequency was low, seen in 26.2% (66/252). However, when only diagnosed patients were analyzed it is 72.7% (16/22). It is also interesting that 63% of individuals are female that there may be sex influence on FMF phenotype.
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PMID:The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at Kirikkale University in Turkey. 1838 82

We report the case of a Caucasian man with systemic lupus erythematosus who had recurrent fevers and abdominal pain. He was later found to carry E148Q polymorphism of MEFV, the gene responsible for familial Mediterranean fever.
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PMID:Possible familial Mediterranean fever in a Caucasian patient with systemic lupus erythematosus. 1862 54

An insidious onset of unexplained fever, weight loss, skin lesions, abdominal pain, and musculoskeletal pain should suggest the diagnosis of polyarteritis nodosa (PAN). However, familial Mediterranean fever (FMF) with protracted febrile myalgia (PFM) should be kept in mind in the differential diagnosis. In this report, 6 cases of PFM mimicking PAN are described. Patients presented with severe muscle and abdominal pain lasting longer than 4 weeks. Their common medical history included recurrent febrile abdominal pain or arthritis. Physical examination revealed hypertension together with severe muscle tenderness. Laboratory examination revealed high acute phase reactants, negative p-ANCA, normal creatine kinase, and complement levels. Duplex abdominal ultrasonography was normal. Four of 6 patients were hospitalized with initial diagnoses of PAN. Renal and mesenteric angiography performed in 1 patient was normal. Steroid therapy controlled all the severe symptoms including hypertension in all of the cases.FMF with PFM is important in the differential diagnosis of patients with suspected vasculitis especially when myalgia is present. Hypertension may be present as a result of sympathetic discharge because of severe myalgia. Because PFM rapidly responds to a short course of corticosteroids, a rapid diagnosis of PFM in FMF patients can reduce unnecessary workup and decrease the time patients have to suffer.
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PMID:Protracted febrile myalgia mimicking polyarteritis nodosa. 1863 21


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