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Alport syndrome

最后审阅: 20 Aug 2025
最后更新: 05 Nov 2024

小结

定义

病史和体格检查

关键诊断因素

  • gross hematuria
  • hearing impairment
完整详情

其他诊断因素

  • fatigue
  • breathlessness
  • peripheral edema
  • hypertension
  • foamy-appearing urine
  • visual disturbance
  • learning disability
  • leiomyoma
  • faltering growth
完整详情

危险因素

  • family history of Alport syndrome
  • family history of thin basement membrane nephropathy
  • family history of microscopic hematuria
  • microscopic hematuria
完整详情

诊断性检查

首要检查

  • CBC
  • metabolic panel
  • fasting lipid panel
  • urinalysis
  • serum intact PTH
  • audiometry
  • ophthalmoscopy
  • renal ultrasound
  • renal biopsy
  • ECG
完整详情

需考虑的检查

  • molecular genetic testing
  • skin biopsy
  • echocardiogram
完整详情

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

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.

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.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

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.Full text  Abstract

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.Full text  Abstract

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

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. Abstract

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.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • 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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