Alport syndrome

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Última revisão: 22 Jul 2025

Última atualização: 05 Nov 2024

Alport syndrome is a rare familial nephropathy due to abnormalities in type IV collagen.

May be inherited in 1 of 4 patterns: X-linked, autosomal recessive, autosomal dominant or autosomal digenic.

Associated with considerable clinical variability of age of onset of chronic kidney disease or end-stage kidney disease. Frequently associated with sensorineural hearing loss.

Females with X-linked Alport syndrome have a significant lifetime risk of developing hypertension and chronic renal disease.

Strong genotype-phenotype correlations in X-linked Alport syndrome have been described in male patients.

Monitoring and initiation of angiotensin-converting enzyme inhibition is the main treatment.

Definição

Alport syndrome is an inherited disease of the glomerular basement membrane caused by abnormalities in type IV collagen.[1] It is associated with sensorineural hearing loss, lenticonus (bulging of the lens capsule and the underlying cortex) and retinal abnormalities, as these tissues are additional sites of expression of type IV collagen.[2][3] The classic thickening and lamellation of the glomerular basement produces a progressive hematuric and proteinuric nephritis that progresses to chronic kidney disease in all males with the X-linked form of the disease.[4]

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

Declarações

RNS declares that he has no competing interests.

Revisores

Clifford Kashtan, MD

Professor

Department of Pediatrics

University of Minnesota Medical School

Minneapolis

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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Alport syndrome

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Algoritmo de tratamento

all patients

Colaboradores

Autores

Richard N. Sandford, MBBS, PhD, FRCP

Declarações

Revisores

Clifford Kashtan, MD

Declarações

Marie Clare Gubler, MD

Declarações

Referências

Principais artigos

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

Diretrizes

Conectar-se ou assinar para acessar todo o BMJ Best Practice

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