Clinical and histological presentation of 3 siblings with mutations in the XXXX gene.

@entity1 @entity37286 @entity8 @entity43749 @entity6391 @entity30946 @entity12000 @entity1986 @entity51433 @entity454
@entity12000 ( @entity12000 ) is an @entity8 characterized by tubular basement membrane disruption, @entity1986 , and tubular cysts. @entity12000 leads to @entity454 in the first 2 decades of life. Four genes responsible for different types of @entity12000 have been identified: @entity37286 , @entity30946 , @entity51433 , and @entity43749 . The @entity37286 gene encodes nephrocystin; @entity30946 , @entity30946 ; @entity51433 , nephrocystin-3; and @entity43749 , nephrocystin-4. We report 3 siblings from a consanguineous family with @entity12000 who were previously described as carrying a homozygous mutation in the @entity43749 gene. Renal imaging showed cysts in the @entity1 . The histological picture of @entity43749 showed the same characteristic features as those known for @entity37286 and @entity51433 . Progression to @entity454 occurred between the ages of 17 and 22 years. None of the renal transplants showed recurrence of the disease. @entity6391 was absent in all affected family members.
