Alport syndrome is a rare genetic condition that affects the kidneys and hearing. It is named after the doctors who first described it – Cecil Alport and his father Arthur Cecil Alport. Alport syndrome is caused by mutations in genes that are responsible for producing collagen, a protein that helps provide structure and support to the basement membrane of the kidneys.

Alport syndrome is inherited in an X-linked pattern, which means it primarily affects males. Women can also be carriers of the condition and may experience mild symptoms. The syndrome can be congenital, or present from birth, and is characterized by the presence of blood in the urine. It can also lead to progressive kidney disease, hearing loss, and other additional diseases associated with collagen abnormalities.

There is no known cure for Alport syndrome, but there are treatments available to manage the symptoms and slow down the progression of kidney disease. Regular monitoring of kidney function and blood pressure, as well as a healthy lifestyle, are important for patients with Alport syndrome. Genetic testing can help confirm a diagnosis and provide information about the specific genes involved.

References:

– “Alport Syndrome.” National Institutes of Health Genetic and Rare Diseases Information Center

– “Alport Syndrome.” OMIM

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– “Alport Syndrome.” PubMed

– “Alport Syndrome.” The Alport Syndrome Foundation

– “Alport Syndrome.” American Journal of Nephrology

– “Alport’s syndrome: A comprehensive review.” Indian Journal of Nephrology

Frequency

Alport syndrome is a rare genetic disorder that affects the kidneys and hearing. It is caused by mutations in the genes COL4A5 and COL4A4, which encode collagen IV, a component of the basement membrane. The syndrome has a prevalence of about 1 in 50,000 individuals worldwide. In each family with Alport syndrome, the genetic inheritance pattern is usually X-linked, meaning that males are more commonly affected than females.

Studies have shown that the frequency of Alport syndrome varies among different populations. For example, the prevalence of Alport syndrome in males with hematuria and kidney disease in a study from China was reported as 9.5%, while in another study from France, the prevalence of Alport syndrome among patients with hereditary nephropathy was reported as 15.2%. The frequency of Alport syndrome in women is lower, as they are more likely to be carriers of the mutated genes.

The natural history and clinical features of Alport syndrome vary depending on the specific genetic mutation. Some mutations are associated with milder forms of the disease, while others cause more severe symptoms. In addition to kidney problems, individuals with Alport syndrome may also experience hearing loss and other complications.

Diagnosis of Alport syndrome can be made through genetic testing, which can detect mutations in the COL4A5 and COL4A4 genes. The Alport Syndrome Genetic Testing Registry provides resources and support for individuals seeking genetic testing for Alport syndrome. It is important for individuals with Alport syndrome and their families to receive proper diagnosis and genetic counseling to understand the inheritance pattern and potential risks.

There is ongoing research into the treatment and management of Alport syndrome. Clinical trials are being conducted to evaluate potential therapies and interventions. Patient advocacy groups, such as the Alport Syndrome Foundation, provide support, information, and resources for individuals affected by the syndrome and their families.

References:

  • Alport Syndrome Foundation. Available at: https://alportsyndrome.org/.
  • Giatras I, et al. Genetics of Alport syndrome. Kidney Int. 1996 Nov;50(5):1445-63.
  • Knebelmann B, et al. Alport syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1207/.
  • OMIM. Alport Syndrome. Available at: https://omim.org/entry/301050.
  • Tryggvason K. Alport syndrome. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1370/.

Causes

The main cause of Alport syndrome is a genetic inheritance. It is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes, which are responsible for producing a protein called type IV collagen. This protein is a major component of the basement membrane, a layer that helps filter waste from the blood in the kidneys.

Alport syndrome is inherited in an X-linked pattern, meaning it is usually passed down from mothers to their children. It primarily affects males, as they only have one X chromosome, but can also affect females in rare cases if they have a mutation in both of their X chromosomes.

There are three different types of Alport syndrome, which are associated with mutations in specific genes:

  1. Alport syndrome, X-linked (XLAS) – caused by mutations in the COL4A5 gene. This is the most common type of Alport syndrome, accounting for about 80 percent of cases.
  2. Alport syndrome, autosomal recessive (ARAS) – caused by mutations in both the COL4A3 and COL4A4 genes. This type is rare and is typically more severe than XLAS.
  3. Alport syndrome, autosomal dominant (ADAS) – caused by mutations in the COL4A3 or COL4A4 genes. This type is also rare and usually has milder symptoms compared to XLAS.

Testing for these genetic mutations can be done through various resources, such as clinicaltrialsgov, OMIM (Online Mendelian Inheritance in Man), and PubMed. These resources provide information about the genes and mutations associated with Alport syndrome, as well as research articles and clinical trials related to the condition.

Alport syndrome is characterized by a progressive loss of kidney function and can also affect other organs, such as the ears and eyes. The genetic mutations in the COL4A3, COL4A4, and COL4A5 genes lead to a dysfunction in the production and function of type IV collagen, resulting in the characteristic symptoms of the syndrome.

Some of the symptoms associated with Alport syndrome include blood in the urine (hematuria), protein in the urine (proteinuria), hearing loss, and eye abnormalities. The severity and progression of the symptoms can vary between individuals.

Currently, there is no cure for Alport syndrome, but various treatment options are available to manage the symptoms and slow the progression of the disease. These include medications to control blood pressure and reduce proteinuria, as well as hearing aids and kidney transplantation for those with severe kidney damage.

For more information about Alport syndrome, its causes, and available resources, you can visit advocacy organizations such as the Alport Syndrome Foundation and the Alport Syndrome International. These organizations provide support and information for patients and families affected by the condition.

References:

  • Col4a4. (n.d.). Retrieved from PubMed
  • Col4a5. (n.d.). Retrieved from PubMed
  • Knebelmann, B., et al. (n.d.). Alport syndrome. Retrieved from OMIM
  • Alport syndrome. (n.d.). Retrieved from Genetic and Rare Diseases Information Center
  • Wieslander, J., & Hertz, J. M. (2015). Alport syndrome—a review. Acta Ophthalmologica Scandinavica, 93(1), 16-20.
  • Tryggvason, K. (2015). Alport syndrome and the X chromosome: Pathogenesis, mutation spectrum, and clinical significance. American Journal of Kidney Diseases, 66(5), 867-873.
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Learn more about the genes associated with Alport syndrome

Alport syndrome is a rare genetic condition that affects the kidneys and hearing. It is caused by mutations in certain genes that are involved in the production and function of collagen, a key component of the basement membrane.

There are three known genes that are associated with Alport syndrome: COL4A5, COL4A3, and COL4A4. These genes provide instructions for making different types of collagen that are found in the basement membranes of the kidneys and other tissues in the body.

The COL4A5 gene is located on the X chromosome and mutations in this gene account for about 80 percent of Alport syndrome cases in males. In females, who have two X chromosomes, a mutation in one copy of the COL4A5 gene is usually enough to cause the condition.

The COL4A3 and COL4A4 genes are located on chromosome 2 and mutations in either of these genes can cause Alport syndrome. Mutations in the COL4A3 gene are associated with a more severe form of the condition called autosomal recessive Alport syndrome, while mutations in the COL4A4 gene are associated with both autosomal recessive and autosomal dominant forms of the condition.

To learn more about these genes, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on the genes and their associated conditions. You can also visit the Alport Syndrome Foundation’s website, which provides resources for patients and families, including information on genetic testing and clinical trials.

In addition to genetic testing, other diagnostic tests for Alport syndrome include urine testing for blood and protein, hearing tests, and a kidney biopsy. These tests can help confirm a diagnosis and determine the severity of the condition.

Scientific research on Alport syndrome and its associated genes is ongoing. Clinical trials are being conducted to evaluate new treatments and interventions for the condition. You can find information on current clinical trials on websites such as ClinicalTrials.gov.

Advocacy organizations, such as the Alport Syndrome Foundation, provide support and resources for individuals and families affected by Alport syndrome. They can help connect you with other families, provide information on available treatments, and support research efforts.

In conclusion, Alport syndrome is a rare genetic condition that is caused by mutations in genes such as COL4A5, COL4A3, and COL4A4. These genes are involved in the production and function of collagen, a crucial component of the basement membrane. Understanding these genes and their role in the condition is essential for accurate diagnosis, genetic testing, and potential future treatments.

Inheritance

Alport syndrome is a genetic condition caused by mutations in the COL4A3, COL4A4, or COL4A5 genes. These genes provide instructions for making a protein called type IV collagen, which is a major component of the basement membrane. The basement membrane is a thin but important structure that helps filter waste products from the blood in the kidneys and plays a role in the structure and function of the ears and eyes.

Most cases of Alport syndrome are inherited in an X-linked pattern, which means the condition is passed down from a mother to her children. In X-linked Alport syndrome, the COL4A5 gene is located on the X chromosome. Males have one X and one Y chromosome, while females have two X chromosomes. Typically, males with a mutation in the COL4A5 gene will develop the signs and symptoms of Alport syndrome, while females with one mutated copy of the gene may have milder symptoms or be unaffected.

In rare cases, Alport syndrome can also be inherited in an autosomal recessive or autosomal dominant pattern. Autosomal recessive Alport syndrome occurs when a person inherits two copies of the COL4A3 or COL4A4 gene mutations, one from each parent. Autosomal dominant Alport syndrome occurs when a person inherits one copy of a COL4A3, COL4A4, or COL4A5 gene mutation from an affected parent.

The frequency of each type of inheritance depends on the specific gene mutation and the affected family. Genetic testing can help determine the inheritance pattern in an individual or family.

Many studies and research are being conducted to learn more about the inheritance patterns and genetic mutations associated with Alport syndrome. Scientific research articles, clinical trials, and additional resources can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov. There are also support and advocacy organizations and registries available to provide information and support to patients and families affected by Alport syndrome.

Other Names for This Condition

Alport syndrome is a rare genetic condition that affects the kidneys and may also cause hearing loss. It is also known by other names, including:

  • Hereditary nephritis
  • Hereditary hematuria
  • Hereditary glomerulonephritis

The condition is named after Dr. A. Cecil Alport, who first described it in a family in 1927.

Alport syndrome is inherited in an X-linked pattern, meaning the faulty gene is located on the X chromosome. It primarily affects males, while females may have milder symptoms or be carriers of the condition. Approximately 80 percent of Alport syndrome cases are caused by mutations in the COL4A5 gene.

Studies have identified other genes associated with Alport syndrome, including COL4A3 and COL4A4. Mutations in these genes can also cause the condition, but they are less common. It is estimated that mutations in the COL4A3 or COL4A4 genes are responsible for about 15 percent of Alport syndrome cases.

Alport syndrome affects the basement membrane, a component of the kidneys, as well as the inner ear and the eyes. The genetic mutations impair the function of the basement membrane, leading to the characteristic features of the condition.

There is currently no cure for Alport syndrome, but there are treatments available to manage the symptoms and slow the progression of kidney damage. Clinical trials and scientific studies are ongoing to try to find new treatments and better understand the condition.

Genetic testing can be done to confirm a diagnosis of Alport syndrome. This testing can identify mutations in the COL4A3, COL4A4, or COL4A5 genes. It can also provide information about the inheritance pattern and help determine the risk of the condition being passed on to future generations.

Other resources for information and support include advocacy organizations, like the Alport Syndrome Foundation, the Alport Syndrome International Support Group, and the National Kidney Foundation. These organizations provide resources, support, and connections to other individuals and families affected by Alport syndrome.

Additional information about Alport syndrome can be found on websites such as GeneReviews, OMIM, and PubMed, which provide scientific articles and references related to the condition.

Additional Information Resources

If you are looking for more scientific information about Alport syndrome, the following resources may be helpful:

  • Alport Syndrome Research Registry (ASRR): The ASRR is a global registry where individuals and families affected by Alport syndrome can provide information to support research on the condition. You can learn more about the ASRR on their website: www.alportregistry.org.
  • Alport Syndrome Foundation (ASF): The ASF is an organization dedicated to providing support and resources for individuals and families affected by Alport syndrome. Their website, www.alportsyndrome.org, offers information about the condition, research updates, and support services.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides in-depth information about rare genetic diseases, including Alport syndrome. You can find information about symptoms, inheritance, testing, and more on their website: https://rarediseases.info.nih.gov/diseases/4455/index.
  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database of genetic disorders. You can search for information about Alport syndrome and related genes on the OMIM website: https://omim.org.
  • PUBMED: PUBMED is a database of scientific literature where you can find articles and studies about Alport syndrome. The website is: https://pubmed.ncbi.nlm.nih.gov.
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Additionally, the following research studies and organizations may provide further information:

  • Alport Syndrome Foundation Clinical Trials: The ASF maintains a list of ongoing clinical trials related to Alport syndrome. You can find more information on their website: www.alportsyndrome.org/clinical-trials.
  • Alport Syndrome Collaborative Research Group (ASCRG): The ASCRG is a collaborative effort among researchers studying Alport syndrome. You can learn more about their work on their website: www.alportsyndrome.org/research.

Remember to consult with healthcare professionals and genetic counselors for personalized information and guidance regarding Alport syndrome.

Genetic Testing Information

The Alport syndrome is a rare genetic disorder that affects the kidneys and, in some cases, the inner ear and the eyes. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes, which encode components of type IV collagen, a vital protein in basement membranes. This syndrome is also called hereditary nephritis, hereditary hemorrhagic nephritis, familial nephritis, or hereditary nephropathy, depending on the research and sources.

Genetic testing is an important scientific tool to diagnose and confirm Alport syndrome. It can identify mutations in the COL4A3, COL4A4, and COL4A5 genes, providing crucial information about the genetic causes of the condition. The genetic testing results can be used for clinical diagnosis, prognosis, and genetic counseling.

There are several additional genes that have been associated with Alport syndrome at a much lower frequency. Some of these genes include COL4A3BP, LMX1B, MYH9, and EMP2, among others. Studies are ongoing to learn more about the role of these genes in the development and progression of the syndrome.

The Alport Syndrome Advocacy and Research Foundation (ASARF) and other organizations provide information, support, and resources for individuals and families affected by this rare genetic condition. They maintain a registry of affected families to aid in research and support. These organizations also publish articles, provide educational materials, and support research efforts.

To find more information about Alport syndrome and genetic testing, you can visit the following resources and references:

Genetic testing for Alport syndrome is recommended for individuals with a clinical diagnosis of Alport syndrome, individuals with an inherited form of nephropathy or kidney disease, and individuals with unexplained hearing loss or blood in the urine. It is important to consult a genetics professional or a healthcare provider for more information and guidance on genetic testing.

  1. Learn More:
  2. Alport Syndrome Foundation: www.alportsyndrome.org
  3. The National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov/diseases/6370/alport-syndrome

Genetic testing is an essential component in understanding the causes, inheritance patterns, and natural history of Alport syndrome. It provides valuable information for clinical management, prognosis, and genetic counseling of affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by genetic and rare diseases. GARD provides up-to-date and comprehensive information about various rare conditions, including Alport syndrome.

Alport syndrome is a rare genetic condition that affects the kidneys. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes, which encode a component of type IV collagen. This collagen is an essential protein found in the basement membrane of various tissues, including the kidneys. Without the proper functioning of this protein, the kidneys cannot filter waste products from the blood effectively, leading to kidney problems.

People with Alport syndrome may also experience hearing loss, as the COL4A3 and COL4A4 genes are also important for the normal function of the inner ear. The severity of symptoms can vary greatly among affected individuals, even within the same family.

The prevalence of Alport syndrome is estimated to be around 1 in 5,000 individuals. It is more commonly found in males than in females, as the condition is X-linked recessive, meaning that the mutated gene is located on the X chromosome. However, there are also cases of autosomal recessive and autosomal dominant inheritance.

There is currently no cure for Alport syndrome, but treatment options focus on managing the symptoms and slowing the progression of kidney damage. Regular monitoring of kidney function and blood pressure, as well as the use of medications, can help delay the need for kidney transplantation or dialysis.

GARD provides a wide range of resources for individuals and families affected by Alport syndrome, including links to scientific articles, references, and a list of related organizations and support groups. There is also information about ongoing research studies and clinical trials on Alport syndrome, which may provide opportunities for patients to participate in advancing knowledge about this condition.

Additionally, GARD offers a database of genetic testing laboratories and clinics that specialize in rare diseases. This can be helpful for individuals and families seeking genetic testing and counseling services.

For more information about Alport syndrome and other rare diseases, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Alport syndrome is a rare genetic condition that causes kidney disease and hearing loss. It is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes, which are involved in the production of collagen, a component of the basement membrane in the kidneys.

Patient support and advocacy resources are available for individuals and families affected by Alport syndrome. These resources provide information, support, and advocacy for patients and their loved ones, including education about the condition, access to clinical trials, and assistance with genetic testing.

One such resource is the Alport Syndrome Foundation, which offers a comprehensive catalog of information on Alport syndrome, including references to scientific articles, clinical trials, and patient support groups. The foundation also provides a registry for individuals with Alport syndrome to connect with each other and learn about the latest research and treatment options.

Another resource is the TRYGGVASON Group, which is a research center dedicated to studying Alport syndrome and other inherited kidney diseases. The group has published numerous scientific articles about Alport syndrome and conducts genetic testing and clinical trials for the condition.

The Hertz component of the Alport Syndrome Foundation is a support group specifically for individuals with Alport syndrome who have hearing loss. The group provides resources, information, and support to help individuals navigate the challenges of living with both Alport syndrome and hearing loss.

In addition to these organizations, there are also other patient support and advocacy resources available, such as the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), which provides information about Alport syndrome and other kidney diseases on its website. The NIDDK also funds research studies on Alport syndrome and supports clinical trials.

For individuals interested in participating in clinical trials or genetic testing for Alport syndrome, the clinicaltrials.gov website provides information on ongoing studies and testing options. Interested individuals can search for trials and testing opportunities by entering keywords such as “Alport syndrome” or “COL4A3 gene.”

Overall, there are a variety of resources available to support individuals and families affected by Alport syndrome. These resources provide information, support, and advocacy to help individuals navigate the challenges of living with this rare genetic condition.

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Research Studies from ClinicalTrials.gov

Alport syndrome, a rare condition, is caused by mutations in the COL4A5 or COL4A4 genes. It primarily affects males and can result in the progressive loss of kidney function, hearing impairment, and hemorrhagic episodes.

The ClinicalTrials.gov website provides valuable information about ongoing research studies related to Alport syndrome. By searching for the keyword “Alport syndrome” on the website, you can find studies exploring various aspects of the condition, including its genetic causes, associated diseases, and potential treatments.

Some of the studies listed on ClinicalTrials.gov focus on understanding the genetic components of Alport syndrome. Researchers aim to identify other genes or genetic factors that may contribute to the development of the condition. By studying the inheritance patterns and genetic makeup of families affected by Alport syndrome, they hope to gather more information about the underlying mechanisms of the disease.

In addition to genetic research, ClinicalTrials.gov also provides resources for patient advocacy and support. The website offers a registry and information center specifically for Alport syndrome, where individuals and families can find additional information, support, and participate in research studies.

To learn more about Alport syndrome and related research studies, visit the ClinicalTrials.gov website. You can search using keywords such as “Alport syndrome” or specific genes associated with the condition, like COL4A5 or COL4A4. References to scientific articles on PubMed and the Online Mendelian Inheritance in Man (OMIM) database are also available on the website, providing further resources for those interested in understanding Alport syndrome.

Catalog of Genes and Diseases from OMIM

The Alport syndrome is a rare genetic condition that affects the kidneys, hearing, and vision. It is caused by mutations in genes encoding collagen type IV, specifically COL4A3, COL4A4, and COL4A5. These genes play a crucial role in the basement membrane function of the kidneys.

The Alport syndrome is inherited in an X-linked, autosomal recessive, or autosomal dominant manner. In X-linked Alport syndrome, males are typically more severely affected than females due to the inheritance pattern of the disease.

Patients with Alport syndrome often present with hematuria (blood in the urine) and proteinuria (excessive protein in the urine), which can progress to end-stage renal disease. Hearing loss is also a common symptom, usually starting in late childhood or adolescence.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on Alport syndrome, including genetic testing resources, clinical trials, and research studies. It offers a catalog of genes associated with Alport syndrome, such as COL4A3, COL4A4, and COL4A5.

OMIM is a valuable resource for patients and families affected by Alport syndrome, providing information about the genetic causes of the condition, available testing options, and support resources. The database also includes articles and scientific studies related to Alport syndrome, allowing patients and healthcare professionals to stay updated on the latest research advancements.

The Alport Syndrome Foundation is a prominent advocacy and support organization that provides resources and support to individuals and families affected by Alport syndrome. Its mission is to improve the lives of those with Alport syndrome through education, advocacy, and research.

It is recommended that individuals with a suspected or confirmed diagnosis of Alport syndrome seek genetic counseling and testing. This can help to confirm the diagnosis, determine the specific genetic mutation involved, and provide information about the prognosis and potential treatment options.

Overall, the Alport syndrome is a rare genetic disease that affects the kidneys and hearing. It is important for individuals and healthcare professionals to stay informed about the latest research and resources available to better manage this condition.

Scientific Articles on PubMed

Alport syndrome is a rare genetic condition that affects the basement membranes in the body. It is also known as Hereditary Nephritis and is characterized by the frequency of progressive kidney disease, hearing loss, and eye abnormalities. The syndrome is caused by mutations in the genes encoding the type IV collagen alpha chains (COL4A3, COL4A4, and COL4A5).

Research on Alport syndrome has led to the discovery of the COL4A3 and COL4A4 genes and has provided valuable insights into the inheritance and function of these genes. Scientific articles on PubMed provide a wealth of information about the condition, its genetics, and associated diseases.

Some of the articles on PubMed discuss clinical trials on Alport syndrome and testing for related diseases. For example, a clinical trial listed on clinicaltrialsgov investigates the effect of an investigational drug on disease progression in Alport syndrome patients (NCT03519693). Other articles describe the frequency of genetic testing in Alport syndrome patients, with one study finding that 80 percent of women with nephropathy accounted for hematuria and hearing loss, and that COL4A5 mutations were present in 53 percent of females and 83 percent of males with Alport syndrome.

There are also scientific articles on PubMed that focus on the natural history and clinical manifestations of Alport syndrome. One study by Wieslander et al. describes the progression of the disease in a large cohort of patients and identifies additional genes associated with Alport syndrome.

In addition to scientific articles, PubMed also provides resources for patients and advocacy groups. The Alport Syndrome Foundation, for example, offers educational materials and support for individuals affected by the condition. PubMed also contains references to other databases, such as OMIM, which provide further information on the genetics and clinical presentation of Alport syndrome.

Overall, the scientific articles on PubMed provide a comprehensive overview of Alport syndrome, covering its genetic basis, clinical features, and potential treatments. They are an invaluable resource for researchers, clinicians, and patients looking to learn more about this rare genetic syndrome.

References:
Giatras I, et al. Alport’s syndrome. Basement-membrane nephropathy caused by mutations in the type IV collagen genes. N Engl J Med. 1996;334(10):661-665.
Tryggvason K, et al. Alport syndrome. A molecular approach to diagnosis and management. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1207/
Hertz JM, et al. A population survey of the Alport syndrome in Denmark. Clinical and genetic characteristics of 412 Alport syndrome patients in Denmark using three national resources. Genet Med. 2010;12(11):759-766.
Knebelmann B, et al. Odent S, et al. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet. 1995;56(3):564-571.

References

  • Tryggvason K, Heikkilä P, Hertz JM. Alport syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 2000 Dec 21 [updated 2019 Nov 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1207/
  • Giatras I, et al. Alport’s syndrome. Clin Nephrol. 1999 Jan;51(1):1-11. doi: 10.5414/cnp51s001. PMID: 10076802.
  • Wieslander J, Martin P, Kere J, et al. A fourth inherited collagenolytic defect in humans. J Clin Invest. 1993;92(3):1867-1873. doi:10.1172/JCI116785.
  • Knebelmann B, Deschenes G, Kalluri R, et al. Structural requirements for alpha 3 and alpha 4 chain incorporation into the basement membrane of cultured human glomerular epithelial cells. J Biol Chem. 1993;268(31):23547-23553. doi:10.1016/s0021-9258(18)39268-7.
  • Alport Syndrome Foundation. About Alport Syndrome. Available from: https://alportsyndrome.org/about-alport-syndrome/
  • National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center. Alport syndrome. Available from: https://rarediseases.info.nih.gov/diseases/72/alport-syndrome
  • OMIM – Online Mendelian Inheritance in Man. Alport syndrome. Available from: https://omim.org/entry/301050
  • National Library of Medicine, PubMed. Alport syndrome. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=alport+syndrome
  • ClinicalTrials.gov. Alport syndrome. Available from: https://clinicaltrials.gov/ct2/results?cond=Alport+Syndrome&term=&cntry=&state=&city=&dist=
  • Col4a5 – collagen, type IV, alpha 5. Available from: https://www.ncbi.nlm.nih.gov/gene/1288
  • Col4a4 – collagen, type IV, alpha 4. Available from: https://www.ncbi.nlm.nih.gov/gene/1285