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Clinical manifestations, diagnosis and treatment of hereditary nephritis (Alport syndrome)

Clifford E Kashtan, MD
Section Editors
Tej K Mattoo, MD, DCH, FRCP
Richard J Glassock, MD, MACP
Deputy Editor
Melanie S Kim, MD


Hereditary nephritis (or Alport syndrome) is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities [1-4]. Alport syndrome is a primary basement membrane disorder arising from mutations in genes encoding several members of the type IV collagen protein family.

The clinical manifestations, diagnosis, and treatment of Alport syndrome will be reviewed here. The pathogenesis, genetics, and pathology of Alport syndrome are discussed separately. (See "Genetics, pathogenesis, and pathology of hereditary nephritis (Alport syndrome)".)


Alport syndrome is a genetically heterogeneous disease that results from mutations in genes encoding the alpha-3, alpha-4, and alpha-5 chains of type IV collagen. These alpha IV collagen chains are normally located in various basement membranes of the kidney, cochlea, and eye. Abnormalities in these chains result in defective basement membranes at these sites, leading to the clinical features of this disorder (ie, progressive glomerular disease, sensorineural hearing loss, and ocular abnormalities). (See "Genetics, pathogenesis, and pathology of hereditary nephritis (Alport syndrome)", section on 'Genetics' and 'Clinical manifestations and course' below.)

Transmission of Alport syndrome can be X-linked, autosomal recessive, or autosomal dominant. (See "Genetics, pathogenesis, and pathology of hereditary nephritis (Alport syndrome)", section on 'Genetics'.)

X-linked transmission accounts for the majority of affected patients and arises from mutations in the COL4A5 gene on the X chromosome.


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Literature review current through: Sep 2016. | This topic last updated: Dec 17, 2015.
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