Alport syndrome pathophysiology: Difference between revisions

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Revision as of 00:47, 30 September 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Pathophysiology

Microscopic Pathology

Basement membranes are thin, sheet-like structures that separate and support cells in many tissues. When mutations prevent the formation of type IV collagen fibers, the basement membranes of the kidneys are not able to filter waste products from the blood and create urine properly, which allows blood and protein to enter into the urine.

The abnormalities of type IV collagen in the glomerular basement membrane cause gradual scarring of the kidneys, eventually leading to chronic renal failure in many people with the disease.

Associated Conditions

Some associated conditions that occur with Alport syndrome are chronic kidney failure, and proteinuria.

References

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 ==Overview==
 ==Pathophysiology==
-===Genetics===
-Alport syndrome is caused by [[mutation]]s in the ''[[COL4A3]]'', ''[[COL4A4]]'', and ''[[COL4A5]]'' [[collagen]] biosynthesis genes.  Mutations in any of these genes prevent the proper production or assembly of the [[type IV collagen]] network, which is an important structural component of the [[glomerular basement membrane]]s in the [[kidney]], inner [[ear]], and [[eye]].
-This syndrome can have different inheritance patterns depending on the type of genetic mutation.  In most people with the disorder, the condition is inherited in an [[X-linked]] pattern due to mutations in the ''[[COL4A5]]'' gene.  A condition is considered X-linked if the gene involved in the disorder is located on the [[X chromosome]].
-Alport syndrome can also be inherited in an [[autosomal recessive]] pattern if both copies of the ''COL4A3'' or ''COL4A4'' gene, located on [[chromosome 2 (human)|chromosome 2]], have been mutated.  Most often, the parents of a child with an autosomal recessive disorder are not affected but are only carriers of one copy of the altered genes.
-In males, who have only one X chromosome, one altered copy of the ''COL4A5'' gene is sufficient to cause severe Alport syndrome.  This single X chromosome explains why most affected males eventually develop [[chronic kidney failure]].  In females, who have two X chromosomes, a mutation in one copy of the ''COL4A5'' gene usually results in blood in the urine, but most affected females do not develop kidney failure.
-===Associated Conditions===
-Some associated conditions that occur with Alport syndrome are [[chronic kidney failure]], and [[proteinuria]].
 ===Microscopic Pathology===
 Basement membranes are thin, sheet-like structures that separate and support cells in many tissues.  When mutations prevent the formation of type IV collagen fibers, the basement membranes of the [[kidneys]] are not able to filter waste products from the blood and create urine properly, which allows blood and [[protein]] to enter into the urine.
 The abnormalities of type IV collagen in the [[glomerular basement membrane]] cause gradual scarring of the [[kidneys]], eventually leading to [[chronic renal failure]] in many people with the disease.
+===Associated Conditions===
+Some associated conditions that occur with Alport syndrome are [[chronic kidney failure]], and [[proteinuria]].
 ==References==
 {{reflist|2}}