7 research outputs found
COL4A5 G624D: abundance of the Alport syndrome mutation in Russia along with Greek, Hungarian and Slovenian populations suggests it is a frequent mutation in Eastern Europe with mild phenotype
peer reviewe
Способ прогнозирования наличия мутации гена col4a5 у пациентов с предполагаемым диагнозом "синдром альпорта"
publication date: 2018; filing date: 2017-11-2
Experience of Alport syndrome genetic testing by Ion Torrent panel in Russian patients
Features of blood and urine in Alport syndrome patients: novel genotype-phenotype correlations.
The paper deals with the topical issues of using high-performance sequencing to diagnose monogenic diseases. The de facto method is widely used in clinical practice. The rapid development of high-performance sequencing requires that medical geneticists and pediatricians specializing in hereditary diseases should understand its possibilities and limitations, choose a strategy for diagnosis in each specific patient, and competently interpret the obtained results.
Novel genotype-phenotype correlations in X-linked Alport syndrome: Serum albumin level, age at onset of hematuria and hypertension
peer reviewe
A non-interventional, prospective, multicenter study for evaluation of the use of the herbal medicinal product Canephron® N in the pediatric outpatient population in Russia
Abstract Background A herbal medicinal product (HMP) with centaury, lovage, and rosemary as active ingredients (brand name: Canephron® N) has been widely used for treatment and prevention of urinary tract infections (UTIs) and other urinary system disorders. Non-clinical in vitro and in vivo data indicate its diuretic, spasmolytic, anti-inflammatory, antioxidative and analgesic effects. The purpose of this non-interventional, prospective, multicenter study was to collect data on the use of the HMP in the Russian pediatric outpatient population. Results In total, 636 outpatients aged 1–17 years were enrolled. Of these, 634 received at least one dose of the HMP and were included in the safety set, which was used for analysis. 61 patients were 12–23 months, 227 were 2–5 years, 234 were 6–11 years and 112 were 12–17 years of age. The oral solution of the HMP was prescribed in 66.4%, and tablets (dragées) in 33.6% of the patients. For 48% of the patients the HMP was prescribed to treat an acute or chronic disease, 25% of the patients received it for prophylaxis, and 27% for both. More than half of the patients (53%) received the HMP as monotherapy. Main treatment indications were UTIs (34.1%) and pyelonephritis (30.0%). The proportion of UTIs was the highest within the youngest age group (51%), while the proportion of different cystitis forms increased in patients older than 2 years. Relevant proportions of different nephritis forms and urolithiasis were only observed in patients aged 12–17 years. Forms of cystitis were more frequent in female than in male patients (15% vs. 1%), while forms of nephritis, urolithiasis, and dysmetabolic nephropathy / crystalluria were more frequent in male patients. At the end of the observational period, 20% of the patients were reported as recovered from their disease, and 65% were reported to show improvements. For 91% of all patients with HMP monotherapy the investigators evaluated the effectiveness of the HMP as ‘good’ or ‘very good’. Nearly all patients (99%) evaluated the tolerability as ‘good‘or ‘very good‘. Five adverse drug reactions were observed. Conclusions The treatment of children aged 1–17 years with the HMP is safe and well tolerated. The study results support the use of the HMP for treatment and prophylaxis of urinary system diseases