Summary
Definition
History and exam
Other diagnostic factors
- fatigue
- breathlessness
- peripheral oedema
- hypertension
- foamy-appearing urine
- visual disturbance
- learning disability
- leiomyoma
- faltering growth
Risk factors
- family history of Alport syndrome
- family history of thin basement membrane nephropathy
- family history of microscopic haematuria
- microscopic haematuria
Diagnostic investigations
1st investigations to order
- FBC
- metabolic panel
- fasting lipid panel
- urinalysis
- serum intact PTH
- audiometry
- ophthalmoscopy
- renal ultrasound
- renal biopsy
- ECG
Treatment algorithm
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.
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 here.
Use of this content is subject to our disclaimer