Last reviewed: 1 Nov 2024
Last updated: 05 Nov 2024
Summary
Definition
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
UK
Disclosures
RNS declares that he has no competing interests.
Peer reviewers
Clifford Kashtan, MD
Professor
Department of Pediatrics
University of Minnesota Medical School
Minneapolis
MN
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 DifferentialsGuidelines
- 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
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