A FAMILY CASE OF SOPH SYNDROME IN CHILDREN

Abstract

The prevalence of SOPH syndrome in the Republic of Sakha (Yakutia) is slightly more than 18 patients per 100,000 Yakut population. At the same time, the frequency of heterozygous carriage of the causal mutation is 1300 per 100,000 healthy Yakuts. As of 2009, the prevalence of SOPH syndrome in the Republic of Sakha (Yakutia) for the entire population was 4.53 per 100,000, and among the Yakuts — 9.95 per 100,000. the Yakut population. This article is devoted to two clinical examples of SOPH syndrome in the same family (brother and sister) with a catamnesis of 6 years. This example of clinical observation is of interest to pediatricians and family doctors practicing in the Republic of Sakha (Yakutia). The materials and methods were outpatient cards of municipal polyclinics for 112,000 children at the place of residence, observation cards for children of the Consultative Polyclinic No. 1 of the National Center of Medicine. The phenotype of both children is similar: When examined for dysplastic physique. The head shape is brachycephalic, the face is symmetrical, hypomimic, straight nose with protruding globella, slight exophthalmos, hypoplastic cheekbones, long filter, thin lips, uneven dentition. The skin is dark, dry. Micromelia. The chest is short, and the belly is large. The limbs are symmetrically shortened. NGO on the male type. Stools and diuresis are normal. Both children underwent radiography of their hands. The bone age lag was revealed in both children. Both children underwent KREK and TREK studies and genetic testing. Both children had a 5741G>A mutation in the NBAS gene in the homozygous state. Immunograms of both children revealed a sharp decrease in the levels of immunoglobulins A, M and G. Both children were prescribed regular replacement therapy with normal human immunoglobulin for subcutaneous administration, the drug Cutaquig at a monthly dose of 0.5-0.6 g / kg / month, according to the scheme of 4 grams every 10 days, at two subcutaneous injection points. Currently, the children are receiving substitution therapy at their place of residence. These cases are of interest to practitioners and scientists, as there is a similarity in the genotypes of the brother and sister. A description of the clinical course of all cases of SOPH syndrome is necessary for making clinical recommendations. The establishment of the SOPH-syndrome registry in the Republic of Sakha (Yakutia) will help in providing medicines and medical care to children with this type of primary immunodeficiency.