[The interesting case from the pediatric polyclinic].
An eleven year old girl from Turkey was diagnosed to have a periodic fever syndrome. The diagnosis of familial mediterranean fever was made by molecular analysis of a mutation in the MEFV-Gen which codes for pyrin. The disease is well-known in the mediterranean area and belongs to the periodic fever syndromes. These syndromes are discussed for their differential diagnosis focused to childhood.
Schöni
M H
MH
Universitätskinderklinik, Inselspital Bern. martin.h.schoeni@insel.ch
D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005334:Fever / Q000139:chemically induced / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis; D007072:Immunoglobulin D; D007223:Infant; D009154:Mutation; D010507:Periodicity; D017354:Point Mutation; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics; D012008:Recurrence
D007072:Immunoglobulin D; D018124:Receptors, Tumor Necrosis Factor