The rs13075270 and rs13092160 polymorphisms of CCR1 and CCR3 genes on oral aphthous-like lesions in PFAPA syndrome

Fever is a common symptom of infection in children. Periodic fever syndromes are less common but more complex. One of these Periodic fever syndromes is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome which is known as the most benign syndromes. The cause of this disease is unknown. Various factors, including environmental and genetic factors, are involved in the development of this disease. In this study, the association of rs13075270 and rs13092160 polymorphisms were investigated in CCR1 and CCR3 genes with susceptibility to this syndrome in the Chinese population. In this regard, 38 patients with PFAPA syndrome and 100 healthy individuals were selected. After DNA sampling and extraction, polymorphisms of CCR1 and CCR3 receptor genes were examined by the PCR-RFLP method. Findings were analyzed using SPSS software version 22 with a significant level of P <0.05. The frequency of T/T genotype rs13092160 polymorphism in the patient and control groups was 78.95% and 83%, respectively, C/T genotype was 21.05% and 17% (P = 0.421). The frequency of the C/C genotype was 0 in both groups. Regarding rs13075270 polymorphism, the frequency of T/T genotype in patient and control groups was 15.79% and 81%, C/T genotype was 78.95% and 18% and C/C genotype was 5.26% and 1%, respectively (P<0.05). Thus, in rs13075270 polymorphism, the C/T genotype was associated with the risk of PFAPA syndrome (P<0.05), but rs13092160 polymorphism did not show a significant difference between individuals with PFAPA syndrome and controls.

Acute tonsillitis in children: nuances in differential diagnosis

Currently, acute tonsillitis remains the most prevalent pediatric respiratory disease. The disease most often occurs in children up to 4 years of age, and in children of this age it is exclusively a viral disease; the viral tonsillitis contribution in older children is 60-80%. However, despite these figures, survey of physicians and parents, as well as audit indicate that the rate of prescribing antibiotics to children with acute tonsillitis is 90-95%, which means that the majority of children receive unnecessary antibiotic therapy. Appropriate differential diagnosis of the diseases, involv-ing the pharynx and tonsils, is a top priority for practicing otolaryngologists and pediatricians. The paper reports rare clinical cases of parapharyngeal abscess, adenoviral tonsillitis, infectious mononucleosis, PFAPA syndrome.

A CURRENT VIEW OF PFAPA-SYNDROME (MARSHALL SYNDROME) IN CHILDREN (clinical observation)

Background. PFAPA syndrome is the most common cause of recurrent fever in children. Despite the long history of the disease, the etiology and pathogenesis of the disease have not been definitively established. Aim. Analysis of the scientific medical literature on PFAPA syndrome (Marshall syndrome) with the presentation of personal clinical observation. Material and methods. An analysis of the medical literature devoted to the problem has been performed. A clinical case of a child with Marshall syndrome is presented. Results and discussion. The nature of the disease is associated with cytokine dysfunction and dysregulation of the inflammasome, which allows it to be classified as an autoinflammatory syndrome. The diagnosis of the disease is based on clinical and history criteria, the specificity of which has been questioned in recent years; new diagnostic criteria are now proposed. Despite the absence of double­blind randomized clinical trials, there is a wealth of experience with therapeutic approaches to PFAPA syndrome, includingВЕСТНИК СОВРЕМЕННОЙ КЛИНИЧЕСКОЙ МЕДИЦИНЫ 2021 Том 14, вып. 479ИЗ ПРАКТИЧЕСКОГО ОПЫТАthe administration of glucocorticoids, colchicine, and tonsillectomy. Our clinical example illustrates the problem of late diagnosis of PFAPA syndrome, the effectiveness of using glucocorticoids to control attacks as first­line therapy, and the need for different therapeutic approaches and differential diagnosis in complicated cases of monogenic autoinflammatory diseases. Conclusion. PFAPA syndrome is the most prevalent hereditary periodic fever syndrome. The exact epidemiology of the disease has not been studied, but it is assumed that the number of diagnosed cases is significantly lower than the actual prevalence of the disease. Attempts to revise the diagnostic criteria of PFAPA syndrome are currently underway. Despite the lack of randomized double­blind clinical trials to date, therapeutic strategies continue to improve.

Familial Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome; is it a Separate Disease?

Introduction: PFAPA is the most common periodic fever syndrome in the pediatric population yet pathogenesis is unknown. PFAPA was believed to be sporadic but family clustering has been widely observed.Objective: To identify demographic and clinical differences between patients with PFAPA and a positive family history (FH+) compared to those with PFAPA with no family history (FH-).Methods: In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31 (14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details. Results: FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003). Conclusions: Our findings suggest that FH+ likely experience a different subset of disease with higher frequency of family history of FMF, arthralgia, myalgia and better response to colchicine compared to FH-. Colchicine prophylaxis for PFAPA should be considered in FH+.

POS1326 FAMILIAL PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA)SYNDROME; IS IT A SEPARATE DISEASE?

Background:Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) is the most common periodic fever syndrome in the pediatric population. Unlike other periodic fever syndromes, the pathogenesis and genetics of PFAPA is unknown. Until recently, PFAPA was believed to be a sporadic disease, yet family clustering has been widely observed and current research indicates that heredity is likely.Objectives:To identify demographic and clinical differences between patients with PFAPA who have a positive family history (FH+) compared to those with PFAPA with no family history (FH-) that can reveal if heritable and sporadic subtypes of this disorder exist.Methods:In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31(14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details.Results:FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003).Conclusion:Our findings suggest that FH+ had probably different subset of disease with higher frequency of family history of FMF arthralgia, myalgia and better response to colchicine. Colchicine prophylaxis for PFAPA should be considered in FH+.Disclosure of Interests:None declared