Alport syndrome

Last reviewed: 2 Sep 2023
Last updated: 06 Aug 2020

Summary

Definition

History and exam

Key diagnostic factors

  • gross hematuria
  • hearing impairment
More key diagnostic factors

Other diagnostic factors

  • fatigue
  • breathlessness
  • peripheral edema
  • hypertension
  • foamy-appearing urine
  • visual disturbance
  • learning disability
  • dysphagia
  • cough or recurrent bronchitis
  • growth retardation
  • menorrhagia
  • irregular firm central pelvic mass
Other diagnostic factors

Risk factors

  • family history of Alport syndrome
  • family history of thin basement membrane nephropathy
  • family history of microscopic hematuria
  • microscopic hematuria
More risk factors

Diagnostic investigations

1st investigations to order

  • CBC
  • metabolic panel
  • fasting lipid panel
  • urinalysis
  • serum intact PTH
  • audiometry
  • ophthalmoscopy
  • renal ultrasound
  • renal biopsy
  • ECG
More 1st investigations to order

Investigations to consider

  • molecular genetic testing
  • skin biopsy
  • echocardiogram
More investigations to consider

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Richard N. Sandford, MBBS, PhD, FRCP

University Reader in Renal 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 has served as an advisory board member and paid speaker for Otsuka Pharmaceuticals. RNS has had research grants and speakers' fees paid to the University of Cambridge from Otsuka Pharmaceuticals and Intercept Pharmaceuticals.

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 Differentials
  • Guidelines

    • Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group
    • Clinical practice recommendations for the treatment of Alport syndrome
    More Guidelines
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