X linked diseases in kidney !

What about these X linked diseases in kidney !

From board stand point, Alport syndrome and  Fabry disease are important AND both these disorders are X linked.

Alport syndrome : Mutation in COL4A5 gene (Thin membrane disease is a structural anomaly secondary to mutation in COL4A3 and COL4A4)

Fabry disease : Mutation in alpha galactosidase A gene.

There are autosomal variants of these diseases and can rarely affect females but not tested in the boards usually!

Dent’s disease – familial nephrolithiasis is also X linked.

ADPKD  is autosomal dominant (as the name implies) – 40% associated with liver cysts, 5% associated with AVM . It is not cost effective to do screening for AVM in all patients with ADPKD. However, if there is a family history of Hemorrhagic stroke (where the risk of AVM goes up to 20%), Screening is recommended !

Medullary sponge kidney is usually a developmental anomaly but can have a hereditary predisposition!


Leave a Reply

Your email address will not be published. Required fields are marked *