HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by a mutation in the SARS2 gene encoding mitochondrial seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We present a case report of a boy aged 1 year 2 months with premature anemia, hyperuricemia, pulmonary hypertension, renal failure, and alkalosis and diagnosed with HUPRA syndrome. This disease is known to be progressive and fatal. A genetic test revealed a new previously undescribed heterozygous nucleotide variant in exons 14 and 1 of the SARS2 gene. The nucleotide substitution c.1295G > A (p.Arg432His) was detected in exon 14; according to the criteria of the American College of Medical Genetics (ACMG), this missense mutation is probably pathogenic. The nucleotide substitution c.227T > C (p.Leu76Pro) was detected in exon 1; according to the ACMG criteria, this missense mutation is a variant of unclear significance. We suggest that previously undescribed nucleotide substitutions in the SARS2 gene revealed in a patient with typical clinical presentation of the HUPRA syndrome should be considered as a pathogenic mutation.

The authors analyzed clinical and morphological correlations between the manifestations and outcome in nephritis with Henoch– Schönlein purpura and assessed the effect of morphological data on achieving remission as per ISKDC, SQC, MEST-C classification.Patients and methods. 32 patients with nephritis in Henoch–Schönlein purpura (15 girls and 17 boys) were enrolled into retrospective longitudinal single-center study, median of primary admission to the nephrological department was 9.0 y. o. [5; 12 y.]. Clinical features of the onset (age, form of onset, glomerular filtration rate, daily proteinuria, hematuria, serum IgA level) and the course of the disease were analyzed in all children. The morphological data were assessed using such morphological classifications as ISKDC, SQC, MEST-C. A search for statistically significant relationships between clinical and morphological data and a comparative analysis of the influence of each morphological classification on the achievement of remission were carried out.Results. The sum of the SQC scores had a statistically significant effect on the outcome (p=0.006): in patients with complete remission, on average, 4 points were obtained, patients who did not achieve remission had 2 points more. When assessing the likelihood of detecting remission depending on the total score of the Oxford scale using the ROC-analysis, a statistically significant model was obtained (p=0.012). If the total MEST-C score was less than or equal to 3, remission was predicted (=0.032). The sensitivity and specificity of the method were both 75%.Conclusions. The practical application of the Oxford MEST-C classification and the new semi-quantitative SQC classification in comparison with the ISKDC classification for children with nephritis in Henoch–Schönlein purpura is promising for predicting an unfavorable renal outcome.

BACKGROUND. The course and outcomes of primary IgA nephropathy in children are variable. Early therapy for high-risk individuals can help to delay the development of end-stage renal disease.THE AIM: to analysis of risk factors for progression and outcomes in children with IgA nephropathy, taking into account clinical and morphological data at the onset and during follow-up.PATIENTS AND METHODS. A retrospective study of 75 children was carried out; the median follow-up was 28 months. The median age of onset was 9.1 years. Patients were divided into 2 groups: 1st – patients with idiopathic IgA nephropathy (n= 53), 2nd – patients with Shenlein-Henoch purpura (n = 22). The diagnosis of primary IgA nephropathy was morphologically confirmed in all patients. Nephrobiopsy data were classified according to the Oxford scale (MEST-C score). The age of onset and first-time admission, the level of proteinuria and glomerular filtration rate (GFR) at the onset, at 12 months, at the end of follow-up, mean arterial blood pressure, MEST-C score, medication before nephrobiopsy were investigated. Progression was determined as a decrease in GFR less than 60 ml/min/1.73 m2. Outcomes were assessed by absence/presence of remission. We provided a search for factors influencing GFR at the end of the follow-up. Data analysis was performed using Student's t-test, Mann-Whitney, χ2, Fisher, linear regression model, binary logistic regression.RESULTS. Unlike adults, the predictive value of the MEST-C score in children has not been proven and is not associated with a decrease in GFR <60 ml/min/1.73 m2. GFR at the end of follow-up was lower in the idiopathic IgA nephropathy group than in group 2. The use of multiple linear regression predicts GFR on average after 28 months of observation.RESULTS. Unlike adults, the predictive value of the MEST-C scale in children has not been proven and is not associated with a decrease in GFR <60 ml/min/1.73 m2. GFR at the end of follow-up was lower in the idiopathic IgA nephropathy group. The use of multiple linear regression predicts GFR on average after 28 months of observation.CONCLUSIONS. The influence of morphological factors on the outcome and course of IgA nephropathy has not been proven. The level of GFR at the onset, mean blood pressure, and the age of the first-time admission turned out to be independent variables, which made it possible to identify children with an expected decrease in GFR less than 90 ml/min /1.73 m2 to the group of specific outpatient follow-up.