Afectación renal en las enfermedades raras genéticas

  1. Rodríguez Doyágüez, P. 1
  2. Boldoba, N.B. 1
  3. Gimena, R. 2
  4. Hernández Sevillano, B. 1
  5. Torra Ballcells, R. 3
  1. 1 Servicio de Nefrología, Hospital Universitario de Guadalajara, Guadalajara, España
  2. 2 Sección de Nefrología, Hospital Príncipe de Asturias, Universidad de Alcalá, Alcalá de Henares, Madrid, España
  3. 3 Servicio de Nefrología, Fundación Puigvert, Barcelona, España
Erakutsi afiliazioak +
Aldizkaria:
Medicine: Programa de Formación Médica Continuada Acreditado

ISSN: 0304-5412

Argitalpen urtea: 2023

Zenbakien izenburua: Enfermedades nefrourinarias (I): Enfermedad glomerular y nefropatías en enfermedades de baja prevalencia

Saila: 13

Zenbakia: 79

Orrialdeak: 4685-4694

Mota: Artikulua

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Beste argitalpen batzuk: Medicine: Programa de Formación Médica Continuada Acreditado

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Rare diseases are defined as those which affect fewer than 65 of every 100,000 individuals. Genetic diseases which affect the kidney mostly belong to this group and represent a significant percentage of patients in renal replacement treatment, especially at young ages. Together with cystic diseases, tubulopathies, or complement gene mutations with renal involvement, there are genetic renal diseases which affect different aspects. Some of them target the glomerulus, such as Alport syndrome (which affects the proteins that form type IV collagen, progressing with proteinuria, microscopic hematuria, and visual and auditory abnormalities), hereditary amyloidosis (which progress with AL amyloidosis and is responsible for 10% of all cases), and steroid-resistant nephrotic syndrome which arises from various mutations and is resistant to immunosuppression. Fabry disease causes the accumulation of glycosphingolipids, producing multisystemic involvement with cardiac and renal mortality. Primary hyperoxaluria is notable due to recurrent urolithiasis and nephrocalcinosis with multisystemic involvement when there is end-stage renal failure. Finally, CAKUT comprises a heterogeneous set of mutations in the genes responsible for the embryonic development of the kidney and urinary tract.

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