Rare Urological Stone and Kidney Diseases

EA 1.3 Rare Urological Stone and Kidney Diseases

Rare urological stone and kidney diseases refer to a group of conditions affecting the urinary system and kidneys that are relatively uncommon and may be difficult to diagnose and treat. These conditions can include rare types of kidney stones, as well as rare genetic or metabolic disorders that affect kidney function. Treatment for rare urological stone and kidney diseases may involve a combination of medical management, dietary changes, and surgical interventions, depending on the specific condition and the individual’s needs. Due to their rarity, these conditions may require specialized care from healthcare providers with expertise in rare urological and kidney disorders.

Expertise Area Coordinator and Vice-EAC

Expertise Area Coordinator:

vacant

Vice-EAC:

vacant

Conditions and Codes

  • Classic homocystinuria, cystine stones: ORPHAcode 394 / ICD-10 Code E72.1
  • Genetic cystic renal disease: ORPHAcode 93587 / ICD-10 Code Q61.1
  • Bartter syndrome: ORPHAcode 112 / ICD-10 Code E26.8
  • Cystinosis: ORPHAcode 213 / ICD-10 Code E72.0
  • Cystinuria: ORPHAcode 214 / ICD-10 Code E72.0
  • Dent disease: ORPHAcode 1652 / ICD-10 Code N25.8

Healthcare Providers

AT Linz Ordensklinikum, BE Leuven UZ, DE Munich LMUK, DE Leipzig UK, DE Mannheim UK, DK Copenhagen Rigshospitalet, ES Barcelona Fundació Puigvert, FR Paris Robert-Debré, LV Riga BKUS, NL Nijmegen Radboudumc, PL Gdansk MUG

Additional Resources