Reference Centre for Rare Kidney Diseases and Malformations of the Urogenital System

Disease group

Diagnostics

Management

Glomerulopathies

• Measurement of protein in urine;

• Complement analysis (C3, C4, CH50); 

• Autoantibody screen (anti-dsDNA, ANCA, ANA ENA, membranous nephropathy antibodies and others); 

• Infectious diseases markers

• Antiphospholipid antibodies, cryoglobulins

• Histopathology service

• Genetic testing

• Immunosuppression (cyclosporin A, mycophenolate mofetil, glucocorticoids, cyclophosphamide)

• Biologic therapy (rituximab, eculizumab)

• Plasma exchange

• Immunoadsorption

• Peritoneal dialysis and hemodialysis

Tubulopathies / Metabolic nephropathies

• Plasma and urine electrolytes and osmolarity

• Copeptin

• Urine protein electrophoresis

• Desmopressin test

• Plasma renin, steroids and their metabolites

• Genetic testing

• Electrolyte therapy protocol

• Desmopressin therapy

• Cystinosis, oxalosis treatment protocol

• Liver transplantation (from 12 years)

• Nephrolithiasis treatment (ureterorenoscopy, percutaneous and ultrasound lithotripsy, Holmium laser)

Thrombotic microangiopathies

• Stool culture for STEC-O157

• Complement system testing (C3, CH50, sC5b-9 levels)

• Homocystein serum levels

• ADAMTS13 activity in plasma

• Genetic testing for complement mutations (CFH, CFI, MCP, C3, CFB, THMD).

• Pharmacologic complement inhibition (eculizumab)

• Plasma exchange and infusions

• Immunosuppression

• Peritoneal dialysis and hemodialysis

CAKUT (renal hypo/dysplasia, obstructive nephropathies, etc.)

• Prenatal and postnatal ultrasound diagnostics

• Ultrasound and X-ray cystoureterography

• CT and MRI

• Renal scintigraphy

• Urodynamic testing

• Laparoscopic and laparotomic procedures

• Endoscopic procedures

• Modern surgical facilities

Chronic kidney disease / dialysis

• Extensive bone minerals testing

• Dialysate analysis, culture

• Peritoneal permeability analysis

• Treatment of chronic kidney disease complications

• Hemodialysis

• Hemodiafiltration (including neonates)

• Automatic peritoneal dialysis (including neonates)

Renal transplantation

• Complete pretransplant work-up

• Transplant ultrasound

• Transplant biopsy and histopathology

• Viral workup (EBV, CMV, BKC, JCV)

• Donor specific antibody analysis

• Renal transplantation surgery and post-transplant management, including renal transplantation from ABO incompatible and highly sensitized patients

• Transplant rejection treatment: immunosuppressive therapies, plasma exchange, immunoadsorption, biologic therapy (rituximab)

• Transplantation complications management (diabetes mellitus, viral infections)

Renovascular hypertension

• Plasma renin activity

• Renovascular duplex ultrasound

• MRI and CT angiography

• 24h blood pressure monitoring

• Echocardiography

• Fundoscopy

• Individualized antihypertensive treatment

• Angioplasty