Familial Mediterranean fever in the pediatric population

Familial Mediterranean fever (FMF) is the most frequent autoinflammatory disorder characterized by short, repeated, and self-limiting crises of fever and serositis. The disease was described as autosomal recessive hereditary transmission secondary to variants of the MEFV (MEditerranean FeVer) gene, even though a variable proportion of patients only present a heterozygous variant. FMF is very common in certain ethnic groups (Turkish, Armenian, Arab, and Jewish), even though it has been described throughout the Mediterranean and elsewhere in the world. The clinical manifestations are variable, with secondary amyloidosis being the most serious complication of the disorder. Treatment and prophylaxis are mainly based on the administration of colchicine, which prevents the crises and avoids complications in most cases. This study reviews the course of seven pediatric patients diagnosed with FMF during the period 2010–2018 at a district hospital. Most of the patients were of Caucasian origin, with onset at an early age in the form of fever as the main symptom, and some patients moreover presented less frequent manifestations (pericardial effusion, sensorineural hearing loss). Two cases presented plasmatic amyloid A protein elevation that subsided with the treatment. All the patients initially received colchicine, and one of them required prescription of anakinra, which was replaced by canakinumab due to a serious adverse reaction. There were no cases of consanguinity, and all the patients were of Mediterranean origin. The subjects showed a favorable course over the years, which was attributed to the early diagnosis and treatment provided.

FAMILIAL MEDITERRANEAN FEVER COMPLICATED BY CHRONIC KIDNEY DISEASE STAGE 5 DESCRIPTION OF THE CLINICAL CASE

this clinical case demonstrates renal amyloidosis – the most severe complication of familial Mediterranean fever (FMF). This clinical case gives an example of rapid evolution of renal failure in the lack of treatment. 62 years old man, Armenian, consults a physician with such complaints as evening fever up to 38° for a month, frequent urination and dark urine. Biochemical blood test revealed an increase in the following indices: creatinine-489 μmol / l, urea 28.3 μmol / l, uric acid 619 μmol / l. GFR-6ml / min. No amyloid deposits were detected by biopsy of the buccal mucosa. The diagnosis of FMF, chronic kidney disease (CKD) stage 5. Initiation of treatment. Tenkhoff catheter installation. Treatment includes сontinuous ambulatory peritoneal dialysis (CAPD) in mode 4 exchanges with a glucose solution of 1.36% 2.0 liters. The dynamics of treatment is positive in presence of constant replacement therapy. A feature of this clinical case is the insidious development of secondary (AA) amyloidosis in uncontrolled patient, which leads to the development of end-stage chronic kidney disease (CKD). This case demonstrates the need of constant examination and treatment of the patients with end-stage CKD by renal replacement therapy, which significantly reduces the quality of patient`s life.

Identification of Antibodies Against Neutrophil Surface Antigens in Two Iranian Patients with Autoimmune Neutropenia

Autoimmune neutropenia is a type of immune-mediated neutropenia, caused by antibody-induced neutrophil destruction. Here, we report two cases (a 3-year-old boy and a 9-year-old girl) with suspected autoimmune neutropenia. The presence of neutrophil antibodies in the sera of these two patients was investigated; using standard neutrophil antibody screening tests such as granulocyte immunofluorescence test (GIFT), granulocyte agglutination test (GAT), and lymphocyte immunofluorescence test (LIFT). A positive reactivity with two-panel cells was found in GIFT. No reactivities with panel cells were observed in GAT and LIFT. To the best of our knowledge, this is the first report for detecting the neutrophil reactive antibodies; using genotyped neutrophils in patients with autoimmune neutropenia in Iran. The final diagnosis of our patients was primary autoimmune neutropenia for the boy and autoimmune neutropenia associated with familial Mediterranean fever for the girl.