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Table 9 Alport syndrome information page

From: The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases

Name

Alport syndrome

Exemption code

RN1360

Group

Diseases of genito-urinary system

Definition

Alport syndrome (SA) is a hereditary disease characterized by structural defect of type IV collagen leading to hematuria and structural alterations of the glomerular basement membrane. AS is often associated with hearing and vision Impairment caused by anomalies in cochlea and crystalline

CCMR

CCMR—Renal and urogenital diseases

Specialised reference institution:

Name of institution—Nephrology

HEAD of the centre

Name of responsible medical specialist

Clinical sub-network

Renal pediatric diseases

Specialised reference institution:

Name of institution—Nephrology

Head of clinical sub-network

Name of responsible medical specialist

  1. CCMR Centro di Coordinamento Regionale Malattia Rara in Italian: Regional Rare Disease Coordination Centre