Introduction:
Familial Mediterranean feverIt is a spontaneous autosomal recessive disorder of unknown etiology, most of which occur in ethnic groups in the Mediterranean, especially non-Central European Jews, Armenians, Turks, and Levant Arabs. Mostly for children with fever, accompanied by fever and one or more inflammatory manifestations, such as peritonitis, arthritis, pleurisy, erysipelas-like erythema.
Cause:
(1) Causes of the disease
The disease is a spontaneous autosomal recessive disorder of unknown etiology.
(two) pathogenesis
Familial Mediterranean fever patients lack a inflammatory mediator C5a that is resistant to the salvage pathway and inhibit neutrophil chemotaxis, Con-A-induced inhibition is reduced, and C5a inhibitors are absent in the patient's synovial and peritoneal fluid. IL-1 and TNF are easily "depleted" at the onset of the disease. The genes that cause familial Mediterranean fever in non-Central European Jews are mainly on chromosome short arm 16 , and the high frequency of familial Mediterranean fever genes increases the probability of offspring becoming sick and not homozygous.
symptom:
Fever usually lasts for 1 to 3 days, may have peritonitis, and constipation is more than diarrhea, pleurisy is common, if not diagnosed, familial Mediterranean hot peritonitis often leads to unnecessary acute abdomen surgery. The onset usually resolves spontaneously within a few days. Arthralgia is a common symptom of familial Mediterranean fever. Arthritis usually involves a single large joint with acute pain and swelling. It usually resolves after 2 to 3 days, although it also lasts for a long time, especially if the hip joint is involved, the swelling is slight, but The pain can be very serious. Permanent joint damage does not occur compared to most other periodic arthritis syndromes. Pericarditis is rare. 3% of adolescent boys have scrotal pain, skin performance occasionally, mainly erysipelas-like erythema, diameter 10 ~ 25cm, mostly below the waist, and scattered tenderness purple spots. 10% to 50% have splenomegaly, AA type (protein-derived amyloid) amyloidosis is more common, about 20%, the highest incidence of Jewish people up to 2%, proteinuria, nephrotic syndrome and so on.
Based on clinical manifestations, laboratory-checked monoclonal antibodies were stained. It can be diagnosed.
diagnosis:
Need to be differentiated from amyloidosis, peritonitis, pleurisy, proteinuria, periodic arthritis syndrome, nephrotic syndrome-related diseases.
complication:
The disease can be complicated by peritonitis, proteinuria, periodic arthritis syndrome, nephrotic syndrome and so on.
treatment:
(a) treatment
Familial Mediterranean hot glucocorticoids are not effective in preventing or treating this disease. PreventiveColchicine1.2 ~ 1.8mg / d can reduce the frequency of seizures, may delay the occurrence of amyloidosis, amyloidosis is a delayed complication of familial Mediterranean fever and the main cause of death in some patients. Frequent precipitation of type AA starch causes kidney disease, and therapeutic doses of colchicine are significantly more than 1.5 mg/d in patients with familial Mediterranean hot amyloidosis, only for those with raw serum creatinine levels below 1.5 mg/dl. Effective in patients, 90% of patients can be completely relieved or fibrous material precipitation is clearly controlled.
(two) prognosis
Amyloidosis is a delayed complication of familial Mediterranean fever and the leading cause of death in some patients. Frequent precipitation of AA-type starch causes kidney disease and can also be life-threatening.
prevention:
To carry out marriage and birth guidance, strive to reduce the incidence of genetic diseases in the population, and improve the quality of the population must take effective preventive measures to avoid the birth of genetic diseases (ie, the implementation of eugenics) and genetic variation, taking the usual measures including: premarital examination , genetic counseling, prenatal testing and early treatment of genetic diseases.
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