Síndrome de Alport

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 22 Jul 2025

Last updated: 21 Feb 2024

A síndrome de Alport é uma nefropatia familiar rara devido a anormalidades no colágeno tipo IV.

Pode ser hereditária em 1 de 4 padrões: ligado ao cromossomo X, autossômico recessivo, autossômico dominante ou autossômico digênico.

Associado a considerável variabilidade clínica da idade de início da doença renal crônica ou doença renal em estágio terminal. Associada com frequência à perda auditiva neurossensorial.

Mulheres com síndrome de Alport ligada ao cromossomo X apresentam um risco significativo ao longo da vida de desenvolver hipertensão e doença renal crônica.

Fortes correlações entre genótipo e fenótipo na síndrome de Alport ligada ao cromossomo X têm sido descritas em pacientes do sexo masculino.

O monitoramento e o início da inibição da enzima conversora de angiotensina são o principal tratamento.

Definition

A síndrome de Alport é uma doença hereditária da membrana basal glomerular causada por anormalidades no colágeno tipo IV.[1] Ela está associada à perda auditiva neurossensorial, à lenticone (elevação da cápsula do cristalino e do córtex subjacente) e a anormalidades retinianas, pois esses tecidos são locais adicionais da expressão de colágeno tipo IV.[2][3] O clássico espessamento e lamelação da base glomerular produz uma nefrite hematúrica e proteinúrica progressiva que evolui para doença renal crônica em todos os homens com a forma ligada ao cromossomo X da doença.[4]

History and exam

Key diagnostic factors

presença de fatores de risco
hematúria macroscópica
deficiência auditiva

Full details

Other diagnostic factors

fadiga
dispneia
edema periférico
hipertensão
urina espumosa
distúrbio visual
dificuldades de aprendizagem
leiomioma
deficit no crescimento

Full details

Risk factors

história familiar de síndrome de Alport
história familiar de nefropatia da membrana basal fina
história familiar de hematúria microscópica
hematúria microscópica

Full details

Diagnostic investigations

1st investigations to order

Hemograma completo
perfil metabólico
perfil lipídico em jejum
urinálise
paratormônio (PTH) sérico intacto
audiometria
oftalmoscopia
ultrassonografia renal
biópsia renal
eletrocardiograma (ECG)

Full details

Investigations to consider

teste genético molecular
biópsia de pele
ecocardiograma

Full details

Treatment algorithm

ONGOING

todos os pacientes

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

Disclosures

RNS declares that he has no competing interests.

Peer reviewers

Clifford Kashtan, MD

Professor

Department of Pediatrics

University of Minnesota Medical School

Minneapolis

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.

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
- Distúrbios de MYH9 (síndrome de Epstein e síndrome de Fechtner)
- Síndrome brânquio-otorrenal
- Nefropatia da membrana basal fina
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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Síndrome de Alport

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic investigations

1st investigations to order

Investigations to consider

Treatment algorithm

todos os pacientes

Contributors

Authors

Richard N. Sandford, MBBS, PhD, FRCP

Disclosures

Peer reviewers

Clifford Kashtan, MD

Disclosures

Marie Clare Gubler, MD

Disclosures

References

Key articles

Reference articles

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

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

Log in to access all of BMJ Best Practice