Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- gross hematuria
- hearing impairment
Outros fatores diagnósticos
- fatigue
- breathlessness
- peripheral edema
- hypertension
- foamy-appearing urine
- visual disturbance
- learning disability
- leiomyoma
- faltering growth
Fatores de risco
- family history of Alport syndrome
- family history of thin basement membrane nephropathy
- family history of microscopic hematuria
- microscopic hematuria
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- CBC
- metabolic panel
- fasting lipid panel
- urinalysis
- serum intact PTH
- audiometry
- ophthalmoscopy
- renal ultrasound
- renal biopsy
- ECG
Investigações a serem consideradas
- molecular genetic testing
- skin biopsy
- echocardiogram
Algoritmo de tratamento
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.
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.
Referências
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 diferenciaisDiretrizes
- 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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