Alport syndrome - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Alport syndrome is a rare familial nephropathy due to abnormalities in type IV collagen.
May be inherited in 1 of 4 patterns: X-linked, autosomal recessive, autosomal dominant or autosomal digenic.
Associated with considerable clinical variability of age of onset of chronic kidney disease or end-stage kidney disease. Frequently associated with sensorineural hearing loss.
Females with X-linked Alport syndrome have a significant lifetime risk of developing hypertension and chronic renal disease.
Strong genotype-phenotype correlations in X-linked Alport syndrome have been described in male patients.

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Definition

Epidemiology

Etiology

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Classifications of Alport syndrome discussed in this topic with associated gene mutations

Citations

Key Articles

Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV alpha345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018 May;93(5):1045-51.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]

Referenced Articles

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