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 (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. The most important complication of FMF is renal amyloidosis, which determines the prognosis. The gene coding the disease (MEFV) is identified on the 16th chromosome. The most common MEFV mutations are M694V, M680I, V726A and M694I located on exon 10 and E148Q located on exon 2. Unfortunately, genotype-phenotype correlation is not well established and there are unexplained ethnic differences in amyloidosis rates. We report two sisters with a common genotype (M694V/M694V) presenting with different phenotypic characteristics: one complaining of intermittent abdominal pain, arthritis and fever, while the other was suffering from intermittent pleuritis and fever during attacks. The observation of different phenotypic presentations with a common genotype in two family members shows that different phenotypes cannot be explained by particular mutations. To understand the correlation between genotypic and phenotypic FMF variants the existence of complex alleles, modifier loci, genetic heterogeneity and possible epigenetic factors should be studied extensively.
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PMID:Two sisters with familial Mediterranean fever: lack of correlation between genotype and phenotype? 1652 34

The kidney is frequently affected in patients with sickle cell syndrome, i.e., homozygous and heterozygous patients, with a consequently large spectrum of renal abnormalities that may range from minimal functional changes to chronic renal failure. Here, we present a 13-year-old boy with sickle cell anemia (SCA) (HbSS) who was referred to our unit with nephrotic syndrome. Renal biopsy revealed AA type amyloidosis on the basis of light microscopic findings, indicating Congo red staining and immunohistochemistry. He had neither a family history of familial Mediterranean fever (FMF) nor any complaint of recurrent abdominal pain, arthritis, and fever, but frequent painful vaso-occlusive crises. The patient was found to have no MEFV gene (Mediterranean feVer) mutations either. Painful episodic attacks might provoke recurrent acute inflammation, leading to repeated stimulation of acute phase responses and cause secondary amyloidosis. To our knowledge, this boy is the first case of SCA complicated by renal amyloidosis observed in childhood.
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PMID:Renal amyloidosis in a child with sickle cell anemia. 1657 Feb 2

The patient was a 63-year-old woman with attacks of fever and abdominal pain, starting from the age of 53 years and recurring every month. Despite various examinations at another hospital, the etiology remained unclear. She was under symptomatic treatment, and was referred to our department for further evaluation. Although she had onset in middle age, the clinical symptoms and examination findings suggested familial Mediterranean fever, and administration of colchitine inhibited the attacks completely. Therefore, the patient was diagnosed as having the disease. We were not able to analyze the entire MEFV gene, but detected only a heterozygous M694I mutation. Amyloidosis did not develop as a complication. The disease is rare in Japan, and its onset in the fifties is extremely rare in the world.
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PMID:A Japanese case of familial Mediterranean fever with onset in the fifties. 1670 43

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

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) 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

Familial Mediterranean fever (FMF) is an autosomal recessive disease that is the most common of a rare group of disorders collectively termed familial hereditary periodic fever syndromes, also known as autoinflammatory syndromes. FMF is predominantly affecting people of Mediterranean descent and clinically characterized by intermittent attacks 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.Patients with inflammatory diseases, such as systemic lupus erythematosus and rheumatoid arthritis, and conditions with chronic subclinical inflammation, like obesity and diabetes mellitus, are now considered to have an increased risk of atherosclerotic cardiovascular complications. FMF is also an inflammatory disease, and it is accepted that even during attack-free periods significant inflammatory reaction continues. However, whether this inflammatory process causes premature atherosclerosis is not known due to a lack of data.Different studies have investigated the association between the fibrinolytic and inflammatory process parameters. PAI-1 is paracrine secretion of pro- and antiinflammatory cytokines, thereby playing a possible role in the adiposity-related inflammation and atherosclerosis. The patients with IRS have higher values of fibrinogen, factor VII, VIII, Von Willebrand factor and Plasminogen Activator Inhibitor (PAI) compared to control subjects. So that we aimed in this study to investigate whether FMF patients with/without amyloidosis and with M694V homozygote mutation, have increased risk for atherosclerotic cardiovascular complications and to determine the strength of association between MEFV gene-mutation types. To our knowledge, this is the first case control and cross-sectional study in the pediatric age groups.
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PMID:The effect of plasminogen activator inhibitor-1 -675 4G/5G polymorphism on familial Mediterranean fever (FMF) disease. 1903 64

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

Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent attacks of abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible for the disease. The objective of this study was to identify the frequency and distribution of 12 MEFV mutations in 153 Syrian patients and perform a genotype-phenotype correlation in the patients' cohort. Of the 153 unrelated patients investigated, 97 (63.4%) had at least one mutation. The most frequent mutation was M694V (36.5%), followed by V726A (15.2%), E148Q (14.5%), M680I (G/C) (13.2%), and M694I (10.2%) mutations. Rare mutations (R761H, A744S, M680I (G/A), K695R, P369S, F479L and I692del) were also detected in the patients. M694V was associated with the severe form of the disease. The identification of a significant number of FMF patients with no mutations or only one known mutation identified indicates the presence of new mutations in the MEFV gene which will be investigated in the future.
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PMID:Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. 1925 30


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