The team working in the Reference Centre for Rare Kidney Diseases and Malformations of the Urogenital System provides care to patients suffering from rare kidney and urological disorders such as:

  • Hereditary and immune glomerulopathies (idiopathic and congenital nephrotic syndrome, focal segmental glomerulosclerosis, ANCA glomerulonephritis, Lupus nephritis, membranous nephropathy, C3 glomerulopathy, membranoproliferative glomerulonephritis Alport syndrome, thin basement membrane disease, etc.);

  • Ciliopathies (ARPKD, ADPKD, juvenile nephronophthisis, HNF1b related diseases, etc.);

  • Phakomatoses with renal involvement (tuberous sclerosis, von-Hippel Lindau);

  • Tubulopathies (renal tubular acidosis, electrolyte / calcium / phosphate metabolism disorders, diabetes insipidus, nephrocalcinosis, etc.);

  • Thrombotic microangiopathies (HUS, TTP);

  • Metabolic and stone forming disorders (Fabry disease, cystinosis, oxalosis, hyperoxaluria, etc.);

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

  • Pediatric CKD, dialysis and renal transplantation;

  • Renovascular hypertension.

Diseases treated in The Centre are planned in cooperation with other units of VUH SK, National Centre of Pathology and laboratories abroad. Patient care is organized with multidisplanry team (dietologists, psychologists, rheumatologists, endocrinologists, gastroenterologists, ophthalmologists, surgeons, otorhinolaryngologists, nephropathologists, radiologists and others).

Diagnostics and management in detail

Diagnostics and treatment methods available for patients with rare renal and urogenital diseases:

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

Last edited: 2022-05-04
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