[Genetic aspects of primary hyperoxaluria: diagnostics and treatment].

Primary hyperoxaluria is a group of inherited metabolic diseases characterized by increased formation of calcium-oxalate stones in kidneys with development of nephrolithiasis and chronic kidney disease. The article summarizes the modern information on the diagnostics and treatment of the disorder depending on genotype of the patient (AGXT, GRHPR, HOGA1 genes). The evaluation of the molecular genetic aetiology of the kidney stone disease contributes to the personalized treatment and prevention of the pathology in the patients and their relatives.

[Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder].

Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the current data on the epidemiology, genetic and biochemical aspects of pathogenesis of the primary hyperoxaluria types 1-3. The variety of clinical signs and disease severity depend on the type of hyperoxaluria.

[Monopolar transurethral enucleation of benign prostatic hyperplasia. Our initial experience].

INTRODUCTION: The choice of surgical treatment in patients with BPH is one of the most discussed issues in urology. In recent years, the surgical treatment of prostates of medium and large sizes by means of enucleation has become increasingly popular. OBJECTIVE: The emergence of special loops to perform bipolar and monopolar enucleation using standard equipment for TURP has opened up new possibilities for the treatment of patients with BPH-transurethral monopolar enucleation BPH. PATIENTS AND METHODS: In the period from December 2014 to the current time 35 monopolar enucleations were performed in the clinic of urology Sechenov FMSMU. The mean age was 70,3+/-3,7 years; Prostate volume was 60,3+/-12,5 cm3; IPSS / Qol 24,6+/-3,3 / 5,1+/-1,1; Qsr 7.7+/-2.1 ml/s. We used resectoscope 26 Ch with constant irrigation, Hook-electrode, pusher-electrode, as well as a standard set of electrodes for mono- and bipolar surgery during the procedure. Enucleated adenomatous nodes were resected either by mono- or bipolar TURP and were laundered by Rene-Alexander syringe, or morcellated. RESULTS: Comparative analysis of different methods of surgical treatment of prostatic hyperplasia (laser and monopolar enucleation) shows the advantages of monopolar enucleation in patients with prostatic hyperplasia. CONCLUSION: Monopolar enucleation of prostate hyperplasia is a radical, as well as a safe and effective surgical method in the treatment of patients with BPH. Further observation of the operated patients will allow us to make a final conclusion about the place of this technique in the treatment of patients with BPH and adequacy of data.