Research program

Description: 
ANTAGENE is involved into discovering the causes of hereditary diseases and developp new DNA screening tests
Tests: 

Renal Amyloidosis

Title:
Renal Amyloidosis
Status:
Active
Description: 
Renal amyloidosis is considered a subset of systemic amyloidosis resulting from amyloid deposition; deposits occur in many organs kidney, liver, thyroid…) but the primary clinical picture results from the renal deposits
Symptomes: 
Progressive and ultimately fatal renal failure
Age d'aparition: 
Between 1 and 5 years old
Examen: 
Definitive diagnosis can be made only by histological analysis on kidney biopsy or post-mortem sample of kidney.
Avancement: 
Undergoing sampling
Collaboration: 
-
Contact: 
Renal amyloidosis is considered a subset of systemic amyloidosis resulting from amyloid deposition; deposits occur in many organs kidney, liver, thyroid…) but the primary clinical picture results from the renal deposits
Remarques: 
Progressive and ultimately fatal renal failure
Spécialité: 
Nephrology
Prélèvements pour participer à la recherche: 
Blood sample in EDTA tube (1-3 mL) or, failing that, a cheek swab (with 2 cytobrushes). In case of death, whatever the reason: • Sample and put promptly a kidney in formalin for histological analysis, and a piece of tissue in alcohol (e.g. tongue) for
Documents à joindre aux prélèvements: 
Clinical certificate, Sampling certificate, Copy of pedigree
Accroche: 
Kidney failure
Race liée: 
Abyssinian