This site is intended for healthcare professionals

CPD
CPD
Pro
Pro
Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

Genetics

Authoring team

Alport's syndrome is the commonest form of hereditary glomerulopathy.

The disordered basement membranes suggested that type IV collagen might be implicated in the pathogenesis.

Study of type IV collagen mutations has clarified the inheritance of Alport's syndrome:

  • the alpha-5 gene for type IV collagen is found on the X chromosome, mutations in this gene explains the X-linked inheritance seen in some families

  • the alpha-3 and alpha-4 genes for type IV collagen are found on chromosome 2, mutations in these genes seem to explain the autosomal recessive forms of Alport's syndrome

Reference:

  • Mochizuki, T. et al. Identification of mutations in the alpha-3 and alpha-4 (IV) collagen genes in autosomal recessive Alport syndrome. Nat. Genet. 1994;8:77-81.

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.