BACKGROUND Angiotensin converting enzyme inhibitors are routinely prescribed to patients with chronic kidney disease because of their known renoprotective effects. We evaluated the effect of short-term therapy with the angiotensin converting enzyme inhibitor, enalapril, in early Alport syndrome, defined as disease duration less than 10 years and a normal glomerular filtration rate. METHODS 11...

In this commentary, I review recent advances in Alport syndrome genetics, diagnostics, and therapeutics. I also offer some opinions regarding strategies to optimize the early identification of affected individuals to promote early therapeutic intervention.

Glomerular diseases are the leading cause of ESKD worldwide. IgA nephropathy (IgAN), focal segmental glomerulosclerosis (FSGS), Alport syndrome (AS), and diabetic kidney disease (DKD) important glomerular characterized by proteinuria, a predictor progression ESKD. Endothelin A (ETA) receptor activation drives inflammation, fibrosis. Therefore, atrasentan, potent selective ETA antagonist, has po...

X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. Contiguous gene syndromes are phenotypically complex disorders associated with the deletion of multiple adjacent genes. There are several examples of such syndromes on the X chromosome. 5 Until ...

In 1927, Alport described the association of hereditary nephritis with sensorineural deafness observed in a family. In 1954, Sohar des­ cribed the presence of crystalline lens malformation associated with renal and hearing impairment. Finally, in 1961, Julien Marie reported the binding of Alport syndrome (AS) in the presence of anterior len­ ticonus. As occurs in an approximate incidence of 1 f...

Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an ...

The glomerular basement membrane (GBM), a principal component of the filtration barrier, is abnormal in several renal diseases. Notable examples include Alport syndrome, Goodpasture (GP) syndrome, and diabetic nephropathy. This commonality, as defined by previous clinical and basic studies, has provided the impetus to explore the chemistry and biology of the GBM as a basis for discovery of path...