Reference Center for Rare Adult Kidney Diseases and Thrombotic Microangiopathies
Specialists of the Reference Center for Rare Adult Kidney Diseases and Thrombotic Microangiopathies manage patients with rare kidney diseases:
- Lysosomal storage diseases (Fabry disease, cystinosis)
- Congenital and acquired glomerulopathies (Alport syndrome, TBMD, etc.)
- Ciliopathies (ADPKD, TSC, nephronophthisis, etc.);
- Tubulopathies (renal tubular acidosis, electrolyte disorders, etc.);
- Thrombotic microangiopathies (HUS, aHUS, TTP);
- Metabolic and stone forming disorders (tyrosinemia, hyperoxaluria, cystinuria, adenine phosphoribosyltransferase (aprt) deficiency, Dent disease, nephrocalcinosis, etc.);
- Renovascular hypertension and familial nephropathy, caused by kidney disorders
- Renal transplant: pre-transplant evaluation; management during early recovery period; transplant complications.
The number of rare kidney diseases patients is increasing. Each year Vilnius University Hospital Santaros Klinikos Center for Nephrology admits over 300 patients with rare kidney diseases. These diseases are frequently heterogenous and result in damage to multiple organs, therefore diagnostics and treatment are done in cooperation with other Vilnius University Hospital Santaros Klinikos departments, National Center of Pathology and laboratories abroad. Reference Center for Rare Adult Kidney Diseases and Thrombotic Microangiopathies collects data on congenital and acquired kidney disease patients, create databases, manage patient registry, perform clinical trials, diagnostics and genetic testing.
Reference Center for Rare Adult Kidney Diseases and Thrombotic Microangiopathies includes all members of multidisciplinary team and uses equipment of their departments (immunology, biochemistry, genetics, histology and clinical laboratories, radiology department). Following procedures and services are provided:
- Outpatient consultations for diagnosed and suspected rare kidney diseases;
- Genetic screening (Alport syndrome, tuberous sclerosis complex, aHUS, Fabry disease), specific biomarkers testing in Lithuania and abroad;
- Ultrasound-guided renal biopsy;
- Ultrasound-guided renal transplant biopsy;
- Ultrasound-guided central line placement;
- Peritoneal dialysis catheter placement;
- Arteriovenous fistula creation;
- Hemodialysis, peritoneal dialysis, renal transplantation
The services provided in the Center are summarized in the following table:
| Diseases | Diagnostics | Management |
| Glomerulopathies (Alport syndrome, TBMD) |
|
Nephroprotection (RAS inhibition); Immunosuppression; Biologic therapy (rituximab, eculizumab); Plasma exchange and infusions; Immunoadsorption; dialysis |
| Metabolic nephropathies (Fabry disease, MPS VI, alpha mannosidosis) |
|
Enzyme replacement therapy (agalsidase alfa; agalsidase beta; lamsede; galsulfase; etc.) |
| Tubulopathies | Urine and serum electrolytes and osmolarity; urine proteins electrophoresis; plasma rennin, glucocorticoids and their metabolites testing | Electrolyte management, cystinosis management, Liddle syndrome treatment (amiloride) |
| Ciliopathies (Tuberous sclerosis complex) | Genetic screening (cooperating with laboratories abroad) | Tuberous sclerosis complex treatment (everolimus) |
| Thrombotic microangiopathies | Shiga toxin producing E. Coli culture; Complement system testing (C3, C4, CH50, sC5b-9 levels); Homocystein serum levels; ADAMTS13 activity in plasma, anti-ADAMTS13 antibodies; Genetic testing for complement mutations (CFH, CFI, MCP, C3, CFB, THMD). | Pharmacologic complement inhibition (eculizumab); Plasma exchange and infusions; Immunosuppression; Dialysis. |
| Chronic kidney disease/dialysis/renal hypertension |
|
Hemodialysis; Hemodiafiltration; Automated peritoneal dialysis. |
| Renal transplantation | Doppler ultrasound; 24h blood pressure monitoring; Echocardiography; renal biopsy; histopathology (light microscopy); viral markers (EBV, CMV, BKC, JCV); HLA typing; Complete pretransplant work-up | Renal transplantation surgery, including renal transplantation from ABO incompatible donors; Immunosuppresive therapies; Plasma exchange; Immunoadsorption; Biologic therapy (rituximab) |
Reference Center for Rare Adult Kidney Diseases and Thrombotic Microangiopathies specialists cooperate with laboratories, hospitals and universities worldwide, they perform various biomedical and clinical trials related to rare kidney diseases and thrombotic microangiopathies.
Reference Center for Rare Adult Kidney Diseases and Thrombotic Microangiopathies nephrologists work with European experts. As members of ERKNet they participate in European Reference Networks activities, CPMS platform, work with specialists from Europe and consult Lithuanian and foreign patients, develop diagnostics and treatment recommendations and participate in various ERKNet Expert Working Groups:
- Hereditary glomerulopathies: Alport syndrome, etc.) – A. Čerkauskaitė, prof. M. Miglinas;
- Tubulopathies – prof. M. Miglinas, A. Čerkauskaitė;
- Thrombotic microangiopathies – prof. M. Miglinas;
- Immune glomerulopathies – prof. M. Miglinas, E. Mačionienė;
- Metabolic and stone disorders – A. Čerkauskaitė, prof. M. Miglinas;
- AD structural kidney disorders – prof. M. Miglinas, A. Čerkauskaitė.
Our specialists cooperate with University of Versailles (France) and University of Rostock (Germany) researchers and laboratories, participate in The European Rare Kidney Disease Registry project, made a webinar Complement-Mediated TMA after Kidney Transplantation (M.Miglinas) 2018, Sept 19 (prof. M. Miglinas). We participate in international conferences, read lectures, attend Expert group meetings, prepare joint publications.
