Alport syndrome
Резюме
Определение
Анамнез и осмотр
Ключевые диагностические факторы
- gross hematuria
- hearing impairment
Другие диагностические факторы
- fatigue
- breathlessness
- peripheral edema
- hypertension
- foamy-appearing urine
- visual disturbance
- learning disability
- leiomyoma
- faltering growth
Факторы риска
- family history of Alport syndrome
- family history of thin basement membrane nephropathy
- family history of microscopic hematuria
- microscopic hematuria
Диагностические исследования
Исследования, которые показаны в первую очередь
- CBC
- metabolic panel
- fasting lipid panel
- urinalysis
- serum intact PTH
- audiometry
- ophthalmoscopy
- renal ultrasound
- renal biopsy
- ECG
Исследования, проведение которых нужно рассмотреть
- molecular genetic testing
- skin biopsy
- echocardiogram
Алгоритм лечения
all patients
Составители
Авторы
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
Раскрытие информации
RNS declares that he has no competing interests.
Рецензенты
Clifford Kashtan, MD
Professor
Department of Pediatrics
University of Minnesota Medical School
Minneapolis
MN
Раскрытие информации
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
Раскрытие информации
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.
Список литературы
Основные статьи
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.Полный текст Аннотация
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.Полный текст Аннотация
Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. Аннотация
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. Аннотация
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.Полный текст Аннотация
Статьи, указанные как источники
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Отличия
- MYH9 disorders (Epstein syndrome and Fechtner syndrome)
- Branchio-oto-renal syndrome
- Thin basement membrane nephropathy
Больше ОтличияРекомендации
- 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
Больше Рекомендации
Войдите в учетную запись или оформите подписку, чтобы получить полноценный доступ к BMJ Best Practice
Использование этого контента попадает под действие нашего заявления об отказе от ответственности