Alport syndrome

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 30 Sep 2024

Last updated: 21 Feb 2024

Alport syndrome is a rare familial nephropathy due to abnormalities in type IV collagen.

May be inherited in 1 of 4 patterns: X-linked, autosomal recessive, autosomal dominant or autosomal digenic.

Associated with considerable clinical variability of age of onset of chronic kidney disease or end-stage kidney disease. Frequently associated with sensorineural hearing loss.

Females with X-linked Alport syndrome have a significant lifetime risk of developing hypertension and chronic renal disease.

Strong genotype-phenotype correlations in X-linked Alport syndrome have been described in male patients.

Monitoring and initiation of angiotensin-converting enzyme inhibition is the main treatment.

Definition

Alport syndrome is an inherited disease of the glomerular basement membrane caused by abnormalities in type IV collagen.[1] It is associated with sensorineural hearing loss, lenticonus (bulging of the lens capsule and the underlying cortex) and retinal abnormalities, as these tissues are additional sites of expression of type IV collagen.[2][3] The classic thickening and lamellation of the glomerular basement produces a progressive hematuric and proteinuric nephritis that progresses to chronic kidney disease in all males with the X-linked form of the disease.[4]

History and exam

Key diagnostic factors

gross hematuria
hearing impairment

Full details

Other diagnostic factors

fatigue
breathlessness
peripheral edema
hypertension
foamy-appearing urine
visual disturbance
learning disability
leiomyoma
faltering growth

Full details

Risk factors

family history of Alport syndrome
family history of thin basement membrane nephropathy
family history of microscopic hematuria
microscopic hematuria

Full details

Diagnostic tests

1st tests to order

CBC
metabolic panel
fasting lipid panel
urinalysis
serum intact PTH
audiometry
ophthalmoscopy
renal ultrasound
renal biopsy
ECG

Full details

Tests to consider

molecular genetic testing
skin biopsy
echocardiogram

Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Richard N. Sandford, MBBS, PhD, FRCP

Professor of Medical Genetics

Honorary Consultant in Medical Genetics

Academic Laboratory of Medical Genetics

University of Cambridge

Addenbrooke's Treatment Centre

Addenbrooke's Hospital

Cambridge

Disclosures

RNS declares that he has no competing interests.

Peer reviewers

Clifford Kashtan, MD

Professor

Department of Pediatrics

University of Minnesota Medical School

Minneapolis

Disclosures

CK declares that he has no competing interests.

Marie Clare Gubler, MD

Emeritus Director of Research

Institut National de la Santé et de la Recherche Médicale

INSERM U574

Hôpital Necker-Enfants Malades

and Université Paris Descartes

Paris

France

Disclosures

MCG declares that she has no competing interests.

Differentials
- MYH9 disorders (Epstein syndrome and Fechtner syndrome)
- Branchio-oto-renal syndrome
- Thin basement membrane nephropathy
More Differentials
Guidelines
- Guidelines for genetic testing and management of Alport syndrome
- Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults - an update for 2020
More Guidelines
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Alport syndrome

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic tests

1st tests to order

Tests to consider

Treatment algorithm

all patients

Contributors

Authors

Richard N. Sandford, MBBS, PhD, FRCP

Disclosures

Peer reviewers

Clifford Kashtan, MD

Disclosures

Marie Clare Gubler, MD

Disclosures

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

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