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!