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    Alport Syndrome Genetic Research

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    Venson Cea
    Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in genes that produce type IV collagen, an important protein in the kidneys, inner ear, and eyes. Most affected individuals experience blood and protein in their urine and progressive loss of kidney function leading to end-stage renal disease. Hearing loss and eye abnormalities such as misshapen lenses also occur. Alport syndrome is usually inherited in an X-linked recessive pattern but can also be autosomal recessive or dominant. There is no cure and treatment focuses on managing symptoms.

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    Alport Syndrome Genetic Research

    Uploaded by

    Venson Cea
    99 views4 pages
    Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in genes that produce type IV collagen, an important protein in the kidneys, inner ear, and eyes. Most affected individuals experience blood and protein in their urine and progressive loss of kidney function leading to end-stage renal disease. Hearing loss and eye abnormalities such as misshapen lenses also occur. Alport syndrome is usually inherited in an X-linked recessive pattern but can also be autosomal recessive or dominant. There is no cure and treatment focuses on managing symptoms.

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    A brief summarization of alport syndrome research and its characteristics.

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    Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in genes that produce type IV collagen, an important protein in the kidneys, inner ear, and eyes. Most affected individuals experience blood and protein in their urine and progressive loss of kidney function leading to end-stage renal disease. Hearing loss and eye abnormalities such as misshapen lenses also occur. Alport syndrome is usually inherited in an X-linked recessive pattern but can also be autosomal recessive or dominant. There is no cure and treatment focuses on managing symptoms.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    99 views4 pages

    Alport Syndrome Genetic Research

    Uploaded by

    Venson Cea
    Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in genes that produce type IV collagen, an important protein in the kidneys, inner ear, and eyes. Most affected individuals experience blood and protein in their urine and progressive loss of kidney function leading to end-stage renal disease. Hearing loss and eye abnormalities such as misshapen lenses also occur. Alport syndrome is usually inherited in an X-linked recessive pattern but can also be autosomal recessive or dominant. There is no cure and treatment focuses on managing symptoms.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    of 4

    Alport Syndrome

    John Venson Cea

    Alport Syndrome
    is a genetic condition characterized by kidney disease, hearing loss and eye abnormalities.
    People with Alport Syndrome experiences progressive loss of kidney function. Mostly of all
    affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of
    the kidneys. Most people with Alport Syndrome also develop high levels of protein in their urine
    (proteinuria). The kidneys function lessens as this condition progresses, leading to end-stage renal
    disease (ESRD)

    People with Alport Syndrome frequently develops sensorineural hearing loss, caused by
    abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals
    may also have misshapen lenses in the eye (anterior lenticonus) and abnormal coloration of the
    retina. These eye abnormalities seldom lead to vision loss.

    Significant hearing loss, eye abnormalities and progressive kidney disease are more common in
    males with Alport Syndrome than in affected females.

    Alport syndrome is a rare disease and the prevalence is not well known. The estimated prevalence
    in the US is 20:100,000 and in Europe 1 to 9:100,000.
    The majority of cases (85%) are X-linked, with the remainder being mainly autosomal recessive.
    The disease accounts for approximately 3% of children and 0.2% of adults with chronic renal
    failure and for >1% of patients receiving renal replacement therapy.
    The majority of patients with chronic renal failure are male due to the X-linked inheritance
    pattern. No clear evidence for significant ethnic variation is available.
    Genetic Changes and Inheritance
    Genetic Changes
    Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each
    provide instructions for making one component of a protein called type IV collagen. This protein
    plays an important role in the kidneys, specifically in structures called glomeruli. Glomeruli are
    clusters of specialized blood vessels that remove water and waste products from blood and create
    urine. Mutations in these genes result in abnormalities of the type IV collagen in glomeruli, which
    prevents the kidneys from properly filtering the blood and allows blood and protein to pass into the
    urine. Gradual scarring of the kidneys occurs, eventually leading to kidney failure in many people
    with Alport syndrome.

    Type IV collagen is also an important component of inner ear structures, particularly the organ of
    Corti, that transform sound waves into nerve impulses for the brain. Alterations in type IV collagen
    often result in abnormal inner ear function, which can lead to hearing loss. In the eye, this protein
    is important for maintaining the shape of the lens and the normal color of the retina. Mutations that
    disrupt type IV collagen can result in misshapen lenses and an abnormally colored retina.

    Inheritance
    Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by
    mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene is located on
    the X chromosome, which is one of the two sex chromosomes. In males (who have only one X
    chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney
    failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a
    mutation in one copy of the COL4A5 gene usually only results in hematuria, but some women
    experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot
    pass X-linked traits to their sons.

    In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of
    the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern. The parents of an
    individual with the autosomal recessive form of this condition each have one copy of the mutated
    gene and are called carriers. Some carriers are unaffected and others develop a less severe
    condition called thin basement membrane nephropathy, which is characterized by hematuria.

    2
    Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this
    form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. It
    remains unclear why some individuals with one mutation in the COL4A3 or COL4A4 gene have
    autosomal dominant Alport syndrome and others have thin basement membrane nephropathy.

    3
    References, sources and citations:
    https://ghr.nlm.nih.gov/condition/alport-syndrome#resources
    https://rarediseases.org/rare-diseases/alport-syndrome/
    http://www.ajkd.org/article/S0272-6386(13)90024-X/fulltext
    http://jasn.asnjournals.org/content/24/3/364.full
    http://www.ajkd.org/article/S0272-6386(16)30354-7/fulltext#sec1
    http://alportsyndrome.org/
    http://www.kidneyabc.com/alport-syndrome-knowledge/478.html

    - Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Type-IV collagen related diseases. J


    Nephrol. 2003 Mar-Apr;16(2):314-6. Review.
    - Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O,
    Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K,
    Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C,
    Smeets H, Gubler MC. X-linked Alport syndrome: natural history in 195 families and
    genotype- phenotype correlations in males. J Am Soc Nephrol. 2000 Apr;11(4):649-57.
    - Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O,
    Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin
    P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler
    MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in
    girls and women belonging to 195 families: a "European Community Alport Syndrome
    Concerted Action" study. J Am Soc Nephrol. 2003 Oct;14(10):2603-10
    - Kashtan CE. Familial hematurias: what we know and what we don't. Pediatr Nephrol. 2005
    Aug;20(8):1027-35. Epub 2005 Apr 27. Review.
    - Thorner PS. Alport syndrome and thin basement membrane nephropathy. Nephron Clin
    Pract. 2007;106(2):c82-8. Epub 2007 Jun 6. Review.

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