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Alport syndrome

Última revisão: 22 Jul 2025
Última atualização: 05 Nov 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • gross hematuria
  • hearing impairment
Detalhes completos

Outros fatores diagnósticos

  • fatigue
  • breathlessness
  • peripheral edema
  • hypertension
  • foamy-appearing urine
  • visual disturbance
  • learning disability
  • leiomyoma
  • faltering growth
Detalhes completos

Fatores de risco

  • family history of Alport syndrome
  • family history of thin basement membrane nephropathy
  • family history of microscopic hematuria
  • microscopic hematuria
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • CBC
  • metabolic panel
  • fasting lipid panel
  • urinalysis
  • serum intact PTH
  • audiometry
  • ophthalmoscopy
  • renal ultrasound
  • renal biopsy
  • ECG
Detalhes completos

Investigações a serem consideradas

  • molecular genetic testing
  • skin biopsy
  • echocardiogram
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

Autores

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

Declarações

RNS declares that he has no competing interests.

Revisores

Clifford Kashtan, MD

Professor

Department of Pediatrics

University of Minnesota Medical School

Minneapolis

MN

Declarações

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

Declarações

MCG declares that she has no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo  Resumo

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.Texto completo  Resumo

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

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. Resumo

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.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Diagnósticos diferenciais

    • MYH9 disorders (Epstein syndrome and Fechtner syndrome)
    • Branchio-oto-renal syndrome
    • Thin basement membrane nephropathy
    Mais Diagnósticos diferenciais
  • Diretrizes

    • 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
    Mais Diretrizes
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