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1/8. colchicine neuromyopathy: a report of six cases.

    colchicine has been in use for therapeutic purposes for many years. It can, however, cause subacute onset muscle and peripheral nerve toxicity in patients with chronic renal failure. In this report we describe 6 patients who developed neuromyopathy after the administration of colchicine. All patients presented with proximal muscle weakness, elevated serum creatine kinase (CK) levels, and neuropathy and/or myopathy on electromyography (EMG). The diagnosis of colchicine toxicity was confirmed in all cases by the normalization of CK levels and EMG after discontinuation of the drug. Toxicity developed in 4 renal failure patients on therapeutic doses of the drug, while one patient took a massive dose for suicidal reasons, and the other was on high-dose therapy. patients using colchicine--especially those with renal failure--should be warned about the side effects of the drug and physicians should be careful in the administration of the drug.
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2/8. PFAPA syndrome mimicking familial mediterranean fever: report of a Turkish child.

    The PFAPA (Periodic Fever, Aphthous stomatitis, pharyngitis, Adenitidis) syndrome is characterized by periodic fever, adenitis, pharyngitis, and aphthous stomatitis. Herein, we present a Turkish child with PFAPA syndrome mimicking familial mediterranean fever because of a rare presentation. A 9-year-old boy was admitted with recurrent fever, aphthous stomatitis, sore throat, headache, and general body pains, lasting 2 to 3 days since 3.5 years of age. He was completely symptom-free between the attacks. He was diagnosed as having familial mediterranean fever according to the clinical findings when he was 6 years of age and colchicum tablet was administrated. Despite colchicines therapy for 8 months, his attacks did not subside; therefore, the drug was discontinued. He had high fever, a painful cervical lymphadenopathy, aphthous stomatitis, and tonsillo-pharyngitis. The patient was then diagnosed as having PFAPA syndrome. He was given a single dose of prednisolone (0.35 mg/kg/dose). His complaints dramatically and completely disappeared 3 h after administration of the drug. During the 8th month of follow-up, a similar febrile attack lasting only 1 day was noted and it was controlled with a single dose of prednisolone (0.5 mg/kg/day). At this writing the patient is in the 12th month of follow-up, and there have been no symptoms after the second attack. In conclusion, our patient shows that PFAPA syndrome can be confused with familial mediterranean fever. We also would like to emphasize that the typical PFAPA syndrome can be easily diagnosed by detailed history-taking and physical findings.
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3/8. Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response.

    We investigated the cause of hereditary periodic fever syndrome in a Spanish child with recurrent long episodes of fever, migratory skin rash, myalgia, arthralgia, conjunctivitis and abdominal pain. Infectious and autoimmune causes were ruled out. No familial history was reported. Analysis of the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene identified a missense mutation (G36E) on exon 3. The absence of this variant in the patient's parents and in controls identified it as a de novo disease-associated mutation. Clinical symptoms disappeared with administration of etanercept; however, levels of acute-phase reactants remained increased and could not be stabilised by the addition of colchicine. We believe that this patient gained some symptomatic relief with etanercept therapy, although not enough to completely avoid the risk of amyloidosis. Thus it is debatable whether etanercept alone or combined with other drugs, is the treatment of choice for patients with tumour necrosis factor receptor-associated periodic syndrome. CONCLUSION: Since there is variability in treatment responses among different patients with tumour necrosis factor receptor-associated periodic syndrome, we suggest that a systematic evaluation of acute-phase reactants, especially SAA-1, could be useful in maintaining or modifying a given therapeutic approach in these patients.
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4/8. Acute colchicine intoxication--possible role of erythromycin administration.

    A 29-year-old patient with familial mediterranean fever and amyloidosis involving the kidney, liver, and gastrointestinal tract received longterm colchicine, 1 mg daily. In the last year she developed diarrhea and abdominal pain, that coincided with toxic colchicine blood levels. After 2 weeks of oral erythromycin therapy she was hospitalized for acute, life threatening colchicine toxicity, with fever, diarrhea, abdominal pain, myalgia and lower extremity parasthesias and later convulsions and alopecia. pancytopenia evolved into rebound leukocytosis, disturbed liver function and hypoglycemia. After a long stormy course she improved. colchicine toxicity with combined liver and renal impairment and the role of erythromycin in her colchicine toxicity are discussed.
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5/8. familial mediterranean fever-related nephrotic syndrome and successful full-term pregnancy.

    familial mediterranean fever (FMF) is a systemic disease with an autosomal recessive inheritance. The most serious complication of FMF is renal amyloidosis. pregnancy may adversely affect renal function in FMF patients with amyloidosis and nephrotic syndrome. A 20-year-old woman with FMF related nephrotic syndrome became pregnant while receiving colchicine therapy. colchicine treatment was continued during pregnancy with close observation. She gave birth to a 2400 g healthy female newborn at the 38th week of gestation. pregnancy and neonatal outcome were uneventful. It is advisable to continue colchicine treatment during conception and pregnancy in FMF patients with amyloid related nephrotic syndrome. colchicine treatment with bed rest, protein reinforcement, acetylsalicylic acid administration and close follow-up may improve the outcome of pregnancy in FMF patients.
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6/8. Sustained, progressive, nonresolving abdominal pain: a previously undescribed clinical presentation of familial mediterranean fever.

    familial mediterranean fever (FMF) is a genetic disorder characterized by sporadic, acute attacks of fever and serosal inflammation. Typical manifestations are recurrent febrile episodes of acute instauration for brief duration (1 to 4 days) that is associated with severe pain due to serositis at one or more sites. Abdominal crisis occurs in 95% of the patients. Treatment with colchicine is highly effective as preventive treatment, but it is considered to be ineffective for the treatment of established acute attacks. As mentioned, untreated crisis resolves spontaneously in 1 to 4 days. Prolonged, nonresolving crisis of abdominal pain refractory to nonsteroidal anti-inflammatory drugs (NSAIDs) and opioids, with fever and elevation of acute phase reactants that resolves after the administration of colchicine, is a clinical presentation undescribed hitherto. The aim of this paper is to report a patient with this distinctively unusual clinical presentation of FMF.
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7/8. A Japanese case of familial mediterranean fever with onset in the fifties.

    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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8/8. Renal uptake of 67Ga-citrate in renal amyloidosis due to familiar Mediterranean fever.

    Renal uptake of 67Ga-citrate is described in a patient with biopsy-proven amyloidosis of the kidneys, due to Familiar Mediterranean Fever. After administration 150 MBq (4 mCi) 67Ga-citrate, scans were done at 48, 72, and 120 h. Intense uptake was noted in both kidneys. A renal biopsy done 5 days after the 67Ga-citrate scan revealed a pattern typical of amyloidosis. gallium scanning can be useful in patients with fever of unknown origin. Renal amyloidosis can be considered when renal uptake of 67Ga-citrate associated with nephrotic syndrome is observed.
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