Disease Directory Alport Syndrome
Connective Tissue

Alport Syndrome

Also known as: hereditary nephritis, COL4A3/COL4A4/COL4A5 nephropathy

Prevalence

1 in 5,000–10,000

Onset

Early childhood (symptoms), adolescence–adulthood (ESKD)

Type

Genetic — X-linked (most common), autosomal recessive, autosomal dominant

Gene

COL4A3, COL4A4, COL4A5

About Alport Syndrome

Alport syndrome is a progressive nephropathy caused by pathogenic variants in genes encoding type IV collagen alpha chains, which are essential structural components of the glomerular basement membrane, cochlea, and ocular lens. The hallmark is persistent microscopic haematuria progressing to proteinuria, declining GFR, and end-stage kidney disease, typically earlier in males with X-linked disease. Sensorineural hearing loss and characteristic ocular findings (anterior lenticonus) complete the classic triad.

Common Clinical Features

Persistent microscopic haematuria from infancy Progressive proteinuria Declining renal function progressing to end-stage kidney disease Sensorineural hearing loss (bilateral, high-frequency) Anterior lenticonus of the ocular lens Macular flecks on retinal examination Recurrent macroscopic haematuria in children following upper respiratory infections

Clinical Trial Eligibility Tips

What to know before applying to Alport Syndrome trials.

Current eGFR, urine protein-to-creatinine ratio, and kidney biopsy showing thinning or lamellation of the GBM on electron microscopy are standard eligibility documents — have these ready.

X-linked vs. autosomal inheritance affects trial eligibility; confirm molecular diagnosis specifying which COL4A gene is affected and the inheritance pattern.

Patients already on ACE inhibitors or ARBs should note dosing, as trials may require stable background therapy or specific washout before enrolment.

Patient Resources

Patient Organization

Alport Syndrome Foundation

Visit website ↗

Natural History Registry

Alport Syndrome Treatments and Outcomes Registry (ASTOR)

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:63)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Alport Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Alport Syndrome. Updated daily.

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