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Alport syndrome

Last reviewed: 30 Sep 2024
Last updated: 21 Feb 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 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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