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Alport syndrome

Last reviewed: 11 Sep 2025
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

გაფრთხილება:

MCG declares that she has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

წყაროები

ჩვენი მტკიცებულებებისა და სარედაქციო ჯგუფები თანამშრომლობენ საერთაშორისო ექსპერტებსა და რეცენზენტებთან, რათა უზრუნველვყოთ თქვენი წვდომა კლინიკურად ყველაზე მნიშვნელოვან ინფორმაციაზე.

ძირითადი სტატიები

Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018 May;93(5):1045-51.სრული ტექსტი  აბსტრაქტი

Savige J, Lipska-Zietkiewicz BS, Watson E, et al. Guidelines for genetic testing and management of Alport syndrome. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-54.სრული ტექსტი  აბსტრაქტი

Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. აბსტრაქტი

Kashtan CE, Gross O. Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020. Pediatr Nephrol. 2021 Mar;36(3):711-9. აბსტრაქტი

Gross O, Tönshoff B, Weber LT, et al. A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome. Kidney Int. 2020 Jun;97(6):1275-86.სრული ტექსტი  აბსტრაქტი

გამოყენებული სტატიები

ამ თემაში მოხსენიებული წყაროების სრული სია ხელმისაწვდომია მომხმარებლებისთვის, რომლებსაც აქვთ წვდომა BMJ Best Practice-ის ყველა ნაწილზე.
  • დიფერენციული დიაგნოზები

    • MYH9 disorders (Epstein syndrome and Fechtner syndrome)
    • Branchio-oto-renal syndrome
    • Thin basement membrane nephropathy
    მეტი დიფერენციული დიაგნოზები
  • გაიდლაინები

    • 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
    მეტი გაიდლაინები
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