Last reviewed: November 2017
Last updated: October  2017

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • gross haematuria
  • hearing impairment

Other diagnostic factors

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

Risk factors

  • FHx of Alport's syndrome
  • FHx of thin basement membrane nephropathy
  • FHx of microscopic haematuria
  • microscopic haematuria

Diagnostic investigations

1st investigations to order

  • FBC
  • metabolic panel
  • fasting lipid panel
  • urinalysis
  • serum intact PTH
  • audiometry
  • ophthalmoscopy
  • renal ultrasound
  • renal biopsy
  • ECG
Full details

Investigations to consider

  • molecular genetic testing
  • echocardiogram
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

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 VIEW ALL

Professor

Department of Pediatrics

University of Minnesota Medical School

Minneapolis

MN

Disclosures

CK declares that he has no competing interests.

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.

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