Resumo
Definição
病史和体格检查
关键诊断因素
- presença de fatores de risco
- hematúria macroscópica
- deficiência auditiva
其他诊断因素
- fadiga
- dispneia
- edema periférico
- hipertensão
- urina espumosa
- distúrbio visual
- dificuldades de aprendizagem
- leiomioma
- deficit no crescimento
危险因素
- história familiar de síndrome de Alport
- história familiar de nefropatia da membrana basal fina
- história familiar de hematúria microscópica
- hematúria microscópica
诊断性检查
首要检查
- Hemograma completo
- perfil metabólico
- perfil lipídico em jejum
- urinálise
- paratormônio (PTH) sérico intacto
- audiometria
- oftalmoscopia
- ultrassonografia renal
- biópsia renal
- eletrocardiograma (ECG)
需考虑的检查
- teste genético molecular
- biópsia de pele
- ecocardiograma
治疗流程
todos os pacientes
撰稿人
作者
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
利益声明
RNS declares that he has no competing interests.
同行评议者
Clifford Kashtan, MD
Professor
Department of Pediatrics
University of Minnesota Medical School
Minneapolis
MN
利益声明
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
利益声明
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.
参考文献
关键文献
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.全文 摘要
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.全文 摘要
Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. 摘要
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. 摘要
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.全文 摘要
参考文献
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
鉴别诊断
- Distúrbios de MYH9 (síndrome de Epstein e síndrome de Fechtner)
- Síndrome brânquio-otorrenal
- Nefropatia da membrana basal fina
更多 鉴别诊断指南
- 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
更多 指南
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