Резюме
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- hematúria macroscópica
- deficiência auditiva
Other diagnostic factors
- fadiga
- dispneia
- edema periférico
- hipertensão
- urina espumosa
- distúrbio visual
- dificuldades de aprendizagem
- leiomioma
- deficit no crescimento
Risk factors
- história familiar de síndrome de Alport
- história familiar de nefropatia da membrana basal fina
- história familiar de hematúria microscópica
- hematúria microscópica
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)
Investigations to consider
- teste genético molecular
- biópsia de pele
- ecocardiograma
Treatment algorithm
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
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
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 DifferentialsGuidelines
- 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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