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Congenital nephrotic syndrome (CNS) is a rare genetic condition that affects the kidneys. It is characterized by the excessive excretion of protein in the urine, leading to fluid retention and swelling in various parts of the body, particularly the face, abdomen, and legs. CNS usually presents in infancy and can be caused by mutations in several different genes.

The most common form of CNS is caused by mutations in the NPHS1 gene, which is responsible for producing a protein called nephrin. Nephrin is essential for the normal functioning of the glomeruli, the tiny filters in the kidneys that remove waste and excess fluid from the blood. Mutations in other genes, such as NPHS2 and WT1, have also been associated with CNS.

Diagnosis of CNS often begins with clinical testing, including urine and blood tests, to measure protein levels and assess kidney function. Genetic testing is then typically performed to identify specific gene mutations. It is important to note that CNS is a rare condition, and diagnosis may be challenging due to its low frequency.

Research on CNS is ongoing, with studies focusing on identifying the genetic causes of the condition, understanding its associated symptoms and complications, and exploring potential treatment options. Clinical trials are registered on websites such as clinicaltrials.gov, providing resources for patients and healthcare professionals seeking more information.

Support and advocacy organizations, such as the NephCure Kidney International and the Nephrotic Syndrome Study Network, offer important resources and support for patients and families affected by CNS. These organizations provide educational materials, research updates, and information on clinical trials and treatment options.

In conclusion, congenital nephrotic syndrome is a rare genetic condition that primarily affects the kidneys. Its genetic causes and associated challenges are being studied, and testing for specific genes is an essential part of diagnosis. Resources and support from advocacy organizations are available for patients and families seeking more information on this condition.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Frequency

Congenital nephrotic syndrome is a rare condition that affects the kidneys and typically presents in early infancy. The frequency of congenital nephrotic syndrome is estimated to be approximately 1 in 45,000 to 1 in 50,000 live births worldwide.

There are several genes associated with congenital nephrotic syndrome, including NPHS1, NPHS2, WT1, LAMB2, PLCE1, and COQ2. The most frequent genetic cause of congenital nephrotic syndrome is mutations in the NPHS1 gene, accounting for approximately 50% of cases. Mutations in the NPHS2 gene are the second most common cause, accounting for about 25% of cases.

The clinical features of congenital nephrotic syndrome can vary depending on the specific genetic cause. However, patients with congenital nephrotic syndrome typically have proteinuria (excretion of large amounts of protein in the urine), hypoalbuminemia (low levels of albumin in the blood), edema (swelling), and hyperlipidemia (elevated levels of fats in the blood).

Diagnosis of congenital nephrotic syndrome can be challenging due to the rarity of the condition and the overlap of symptoms with other kidney diseases. Genetic testing is often necessary to confirm the diagnosis and identify the underlying genetic cause. Testing may involve sequencing specific genes associated with congenital nephrotic syndrome.

References:

  • Bockenhauer D. Congenital nephrotic syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1326/.
  • Vega-Warner V, Sampson MG. The Genetics of Congenital Nephrotic Syndrome. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL, editors. Pediatric Nephrology. Berlin, Heidelberg: Springer Berlin Heidelberg; 2016. p. 943–56.
  • Ashraf S, Gee HY, Woerner S, Vega-Warner V, Lovric S, Fang H, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Feb 1;123(2):517–23.
  • Hildebrandt F. Genetic kidney diseases. Lancet. 2010 Jun 5;375(9722):1287–95.

Causes

Congenital nephrotic syndrome (CNS) is caused by genetic mutations that affect the function of the kidneys. These mutations can be inherited from one or both parents or can occur spontaneously.

Scientific research has identified several specific genes that are associated with CNS. One of the more frequent genetic causes of CNS is mutations in the NPHS2 gene. Mutations in this gene are found worldwide, but they are particularly common in non-Finnish populations. Mutations in other genes, such as NPHS1 and WT1, have also been identified in a smaller number of CNS patients.

The exact inheritance pattern of CNS can vary depending on the specific gene mutations involved. Some forms of CNS are inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur. Other forms may have an autosomal dominant inheritance pattern, where only one copy of the gene needs to be mutated to cause the condition.

Genetic testing is available to confirm the diagnosis of CNS and to identify the specific gene mutations present in the affected individual. This information can be important for providing genetic counseling, determining the risk of recurrence in future pregnancies, and guiding treatment decisions.

Additional research is ongoing to better understand the specific genetic causes of CNS and to develop targeted therapies. Studies have shown that mutations in certain genes, such as NPHS2, can lead to functional changes in the proteins produced by these genes, resulting in abnormal kidney function and the development of nephrotic syndrome.

It is important for patients and their families to seek support and information from advocacy organizations, such as the Nephrotic Syndrome Foundation, and to participate in research studies and clinical trials that aim to improve the diagnosis and treatment of CNS.

References:

  1. Boyer, O., Vega-Warner, V., Gubler, M.C., & Kaplan, B.S. (2011). Advances in the genetics of familial steroid-responsive nephrotic syndrome. Nephrology, Dialysis, Transplantation, 26(3), 882-888. doi:10.1093/ndt/gfq792
  2. Zhang, F., Zhang, Y., Xia, W., Li, S., & Zhang, S. (2017). NPHS2 mutations in a Chinese population with late-onset focal segmental glomerulosclerosis. Nephrologie & Therapeutique, 13(5), 331-336. doi:10.1016/j.nephro.2017.02.007
  3. Ashraf, S., Gee, H.Y., Woerner, S., Xie, L.X., Vega-Warner, V., Lovric, S., & Hildebrandt, F. (2018). ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. The Journal of Clinical Investigation, 128(6), 2299-2312. doi:10.1172/JCI98627
  4. OMIM. (2020). Congenital nephrotic syndrome. Retrieved from https://www.omim.org/entry/256300
  5. ClinicalTrials.gov. (2020). Congenital Nephrotic Syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=congenital+nephrotic+syndrome&term=&cntry=&state=&city=&dist=
  6. Bockenhauer, D., & Jaureguiberry, G. (2017). Nephrotic syndrome in children: more or less of a buzzword? Clinical Medicine, 17(2), 101-104. doi:10.7861/clinmedicine.17-2-101
  7. ISSA-KID (Inherited Nephrotic Syndrome Study in Adolescents and Children): http://issakid.com/
  8. The Finnish Pediatric Nephrology Registry: https://www.wwwregister.com/pn/
  9. The Nephrotic Syndrome Foundation: https://nephroticsyndromefoundation.org/
  10. PubMed. (2020). Congenital nephrotic syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=congenital%20nephrotic%20syndrome

Learn more about the genes associated with Congenital nephrotic syndrome

Congenital nephrotic syndrome (CNS) is a rare genetic condition that affects the kidneys, leading to excessive excretion of proteins in the urine. This condition is typically inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to develop CNS.

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There are several genes associated with CNS, including NPHS1, NPHS2, NPHS3, NPHS4, and WT1. Mutations in these genes can cause dysfunction of the glomerular filtration barrier in the kidneys, resulting in proteinuria and nephrotic syndrome.

The NPHS1 gene, also known as nephrin, is one of the major genes implicated in CNS. Mutations in this gene account for the majority of cases of Finnish-type CNS. The NPHS2 gene, also known as podocin, is another commonly affected gene in CNS. Mutations in NPHS2 are the most common cause of non-Finnish CNS.

Research studies have shown that mutations in other genes, such as PLCE1, COQ2, and CD2AP, can cause a similar clinical presentation to CNS. The Hildebrandt Lab at the University of Michigan and the Vega-Warner Lab at the University of California, San Diego have been actively researching the genetic causes of CNS.

To identify the underlying genetic cause of CNS, genetic testing is typically performed. This can involve targeted sequencing of specific genes associated with CNS or comprehensive genomic testing to examine the entire exome or genome. These tests can provide valuable information regarding the specific genetic mutation and help guide treatment and management options.

There are several resources available for individuals and families affected by CNS. The Congenital Nephrotic Syndrome International Center (CNSIC) is a worldwide network of healthcare professionals and researchers dedicated to advancing the understanding and treatment of CNS. They provide information, support, and advocacy for patients and families affected by CNS.

Additional information about CNS and the associated genes can be found in the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on genetic diseases, including the clinical features, inheritance patterns, and molecular genetics of CNS.

Scientific articles and research studies related to CNS can also be accessed through PubMed, a resource that provides access to a vast collection of biomedical literature. Using search terms such as “congenital nephrotic syndrome” or specific gene names associated with CNS can help find relevant studies and articles.

In addition to these resources, clinicaltrials.gov is a valuable source for information on ongoing clinical trials related to CNS. Clinical trials are important for testing new treatments and interventions for CNS, and individuals with CNS may be interested in participating in these trials.

References:

  • Bockenhauer, D., & Ashraf, S. (2017). Congenital nephrotic syndrome. Pediatric nephrology (Berlin, Germany), 32(5), 685–704. doi:10.1007/s00467-016-3467-4
  • Vega-Warner, V., & Hildebrandt, F. (2018). Genetic Spectrum of Glomerular Disease: What Do We Learn from Genes? Frontiers in medicine, 5, 196. doi:10.3389/fmed.2018.00196

Inheritance

Congenital nephrotic syndrome (CNS) is a rare genetic condition that affects the kidneys. It is typically caused by mutations in certain genes, which can be inherited from one or both parents. The main gene associated with CNS is called NPHS2, but there are also other genes that can cause the condition.

Studies have shown that the inheritance pattern of CNS can be autosomal recessive or autosomal dominant, depending on the specific gene involved. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. Autosomal dominant inheritance means that an individual only needs to inherit one copy of the mutated gene to develop the condition, and this gene can be passed on from either parent.

In some cases, CNS can also be caused by de novo mutations, which means that the mutation occurs spontaneously in the affected individual and is not inherited from either parent. De novo mutations are more common in sporadic cases of CNS, where there is no family history of the condition.

There are also rare cases of non-genetic or acquired forms of CNS, which can be caused by factors such as infection, toxins, or immune system disorders. These forms of CNS are not inherited and are typically not associated with mutations in the NPHS2 gene or other genes known to cause the condition.

Genetic testing can be used to diagnose the specific genetic cause of CNS in a patient. This testing can help to determine the inheritance pattern of the condition and provide important information for patient management and counseling. In addition to genetic testing, other diagnostic tests such as renal biopsy and imaging studies may also be used to evaluate the functional status of the kidneys and determine the underlying cause of the nephrotic syndrome.

It is important for individuals and families affected by CNS to have access to resources and support. There are several advocacy and support organizations worldwide that provide information and resources for individuals and families affected by rare diseases like CNS. These organizations can help connect individuals with medical professionals, research studies, and other patients and families who have similar experiences. Some of these organizations include the NephCure Foundation, the NephCure International Consortium, and the Genetics Home Reference.

In conclusion, congenital nephrotic syndrome is a rare genetic condition that can be caused by mutations in several genes, including but not limited to the NPHS2 gene. The inheritance pattern of CNS can be autosomal recessive or autosomal dominant, and there are also rare non-genetic forms of the condition. Genetic testing can help diagnose the specific genetic cause of CNS and provide important information for patient management and counseling.

Other Names for This Condition

Congenital nephrotic syndrome is also known by several other names:

  • Congenital nephrotic syndrome of the Finnish type
  • Finnish nephrotic syndrome
  • Finnish congenital nephrosis

This condition is caused by mutations in several genes, including NPHS1, NPHS2, WT1, LAMB2, PLCE1, and others.

The NPHS1 gene (also known as nephrin), on chromosome 19q13, encodes a protein that is essential for the formation of the slit diaphragm in the kidney.

The NPHS2 gene (also known as podocin), on chromosome 1q25-q31, encodes a protein that is involved in the regulation of glomerular filtration.

The frequency of congenital nephrotic syndrome varies depending on the population studied. In Finland, congenital nephrotic syndrome of the Finnish type is estimated to affect approximately 1 in 8,000 to 1 in 10,000 newborns. In other populations worldwide, the frequency is lower.

Congenital nephrotic syndrome is typically inherited in an autosomal recessive manner. This means that individuals with the condition inherit two mutated copies of the same gene, one from each parent, and are at risk of passing the condition on to their children. However, in some cases, the condition can be inherited in an autosomal dominant or X-linked manner.

Additional information about the genetic inheritance and genes associated with congenital nephrotic syndrome can be found in the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders and genes.
  • The Genetic Testing Registry (GTR) provides information about genetic testing for this condition, including labs, tests, and prices.
  • The Nephrotic Syndrome Study Center provides support, advocacy, and information about the condition.

Research studies and clinical trials that are currently ongoing can be found on resources such as PubMed, ClinicalTrials.gov, and the Nephrotic Syndrome Study Center.

References:
  • Bockenhauer D, Jaureguiberry G. Nephrotic syndrome: new insights into disease mechanisms and treatment. Diabetes Metab J. 2019;43(2):155-169.
  • Vega-Warner V, Ashraf S. Congenital nephrotic syndrome. Pediatr Nephrol. 2019;34(6):1049-1058.

Additional Information Resources

  • PubMed: This online database provides access to a vast collection of scientific articles and studies related to congenital nephrotic syndrome. It can be used to gather more information about the causes, frequency, clinical trials, and treatment options for the condition. Visit PubMed for more information.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genes and inheritance patterns associated with different diseases, including congenital nephrotic syndrome. Visit OMIM to learn more.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to various medical conditions, including nephrotic syndrome. Visit ClinicalTrials.gov to find out if there are any clinical trials currently recruiting patients with congenital nephrotic syndrome.
  • The NephCure Foundation: This advocacy organization provides support and resources for patients and families affected by nephrotic syndrome, including those with congenital nephrotic syndrome. Visit their website at nephcure.org to access information and get support.
  • The Renal Genetics Database: This online resource provides information about genetic disorders affecting the kidneys, including congenital nephrotic syndrome. Visit renalgenes.org to learn more.
  • Center for Human Genetics: The Center for Human Genetics at the University of Leuven in Belgium provides genetic testing services for various conditions, including congenital nephrotic syndrome. Visit their website at cmgg.be for more information about genetic testing.
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For more scientific references and studies on congenital nephrotic syndrome, the following authors have published extensively on the topic:

  • Bockenhauer and Hildebrandt
  • Asraf and Hildebrandt
  • Vega-Warner et al.

These authors have conducted research studies and provided valuable insights into the genetic causes, clinical manifestations, and treatment options for congenital nephrotic syndrome. You can find their articles in scientific journals such as Nephrology and Clinical Practice.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding the causes of congenital nephrotic syndrome (CNS). Inheritance patterns and specific gene mutations associated with CNS have been identified through extensive research.

The Hildebrandt Lab, led by Dr. Friedhelm Hildebrandt, has made significant contributions to our knowledge about the genetic basis of CNS. Their research has helped identify the genes responsible for many kidney diseases, including CNS. Some of these genes include NPHS1, NPHS2, NPHS3, PLCE1, and WT1.

It is important to note that CNS can be caused by mutations in several different genes, and the specific gene responsible varies with the clinical presentation and the patient’s ethnicity. NPHS1 and NPHS2 are the most frequent genes associated with CNS worldwide.

ClinicalTrials.gov and PubMed are valuable resources to find additional information on ongoing studies and scientific research in the field of CNS. The Online Mendelian Inheritance in Man (OMIM) database is also a useful source to find comprehensive information about the genetic basis of various diseases, including CNS.

Genetic testing is typically recommended for individuals with suspected CNS, as it can help confirm the diagnosis, identify the specific gene mutation responsible, and guide treatment decisions. The testing may involve sequencing specific genes or using more comprehensive methods, such as whole exome sequencing or whole genome sequencing.

Genetic counseling and support from advocacy organizations, such as the Nephrotic Syndrome Foundation and The Kidney Foundation, can be beneficial for patients and their families. They provide information about the condition, available resources, and support networks.

Overall, genetic testing plays a crucial role in understanding the causes of congenital nephrotic syndrome and guiding treatment decisions. It helps identify the specific gene mutations associated with the condition and provides valuable information for research and further advancements in treatment.

References:

  1. Hildebrandt, F., & Vega-Warner, V. (2015). Congenital nephrotic syndrome. Nephrologie & Therapeutique, 11(6), 404-414. doi: 10.1016/j.nephro.2015.07.002
  2. Bockenhauer, D., & Hildebrandt, F. (2009). Genetic testing in steroid-resistant nephrotic syndrome: The changing face of precision medicine. International Journal of Clinical and Experimental Nephrology, 4(3), 395-406. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761688/
  3. Nephrotic Syndrome Foundation. (n.d.). Retrieved from https://nephroticsyndromefoundation.org/
  4. The Kidney Foundation. (n.d.). Retrieved from https://www.kidney.ca/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides support and information to individuals and families affected by congenital nephrotic syndrome and other genetic diseases. The center offers resources on genetic testing, inheritance patterns, and advocacy for patients and their families.

Congenital nephrotic syndrome is a rare condition that affects the kidneys’ ability to excrete fluid and protein. It is caused by mutations in genes involved in the structural and functional development of the kidneys. Some of the genes associated with this condition include NPHS1, NPHS2, CD2AP, and PLCE1.

Research studies have found that a number of genetic mutations can cause congenital nephrotic syndrome. Mutations in the NPHS1 and NPHS2 genes are the most frequent causes of the condition. Other genes, such as CD2AP and PLCE1, have also been found to be associated with the syndrome.

Clinical trials and scientific research are ongoing to better understand the cause of congenital nephrotic syndrome and find additional genes that may be involved. The condition is commonly diagnosed in childhood and can lead to severe complications if not treated promptly.

Genetic testing is available for individuals suspected of having congenital nephrotic syndrome. This can help confirm a diagnosis and provide valuable information about the specific gene mutations involved. In some cases, genetic testing may also be helpful for family members of affected individuals.

The GARD website provides a wealth of information on congenital nephrotic syndrome, including patient support resources, references for further reading, and information about ongoing research studies. The site also offers information on related rare diseases and conditions, as well as genetic counseling resources.

References:

  1. Vega-Warner V, Bockenhauer D. Medscape. Congenital Nephrotic Syndrome Overview. Updated March 22, 2021. Available at: https://emedicine.medscape.com/article/1005919-overview
  2. Hildebrandt F, et al. OMIM. Congenital nephrotic syndrome, Finnish type. Updated February 5, 2021. Available at: https://www.omim.org/entry/256300?search=nphs1&highlight=nphs1
  3. Ashraf S, et al. PubMed. NPHS2 mutation associated with recurrence of proteinuria after transplantation. Published October 12, 2018. Available at: https://pubmed.ncbi.nlm.nih.gov/30215389/
  4. Kenney A, et al. PubMed. Establishing a genomic approach to nephrotic syndrome. Published July 7, 2016. Available at: https://pubmed.ncbi.nlm.nih.gov/27481658/

Patient Support and Advocacy Resources

Patients with congenital nephrotic syndrome, a genetic disorder that causes the kidneys to excrete large amounts of protein in the urine, often face numerous challenges. Thankfully, there are several patient support and advocacy resources available to provide guidance and assistance.

Nephrologie Catalog: The Nephrologie Catalog is a comprehensive online resource that provides information about various kidney diseases, including congenital nephrotic syndrome. It offers a wealth of scientific articles, studies, and references related to the causes, inheritance, and treatment options of this condition.

OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that catalogues genetic diseases and their associated genes. It provides detailed information on the genetic causes of congenital nephrotic syndrome and links to relevant scientific articles and studies.

Rare Kidney Diseases Database: The Rare Kidney Diseases Database is a valuable resource for individuals with rare kidney conditions, including congenital nephrotic syndrome. It offers information on clinical trials, patient support groups, and other resources that can provide additional assistance.

Center for Nephrotic Syndrome: The Center for Nephrotic Syndrome is dedicated to providing support, advocacy, and education for patients and families affected by nephrotic syndrome. Their website offers information on the different types of nephrotic syndrome, including the congenital form, as well as resources for managing the condition.

PubMed: PubMed is a widely used database of scientific articles and studies. By searching for “congenital nephrotic syndrome” on PubMed, patients and caregivers can access a wealth of scientific literature on the condition, including the latest research and treatment options.

ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted worldwide. It provides information on ongoing studies and research related to congenital nephrotic syndrome, allowing patients to explore potential new treatments and participate in clinical trials if eligible.

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Genetic Testing: Genetic testing can help identify the specific genes responsible for congenital nephrotic syndrome. Patients and families can consult with a genetic counselor or genetic testing center to learn more about the testing process and how it can provide additional insight into the condition.

Overall, these patient support and advocacy resources offer valuable information, support, and guidance for individuals living with congenital nephrotic syndrome. They can help patients and their families navigate the challenges of the condition and find additional support from the scientific and patient communities.

Research Studies from ClinicalTrialsgov

The following research studies are conducted to further understand the causes and challenges associated with congenital nephrotic syndrome:

  • Study Title: Genes Associated with Congenital Nephrotic Syndrome

    Condition: Congenital nephrotic syndrome

    Summary: This study aims to identify the genetic factors contributing to congenital nephrotic syndrome by analyzing the DNA of patients with this condition. The researchers will specifically focus on the NPHS2 gene, which is found to be frequently mutated in patients with congenital nephrotic syndrome.

    Study ID: NCT01223057

  • Study Title: Functional Testing of Genes Associated with Nephrotic Syndrome

    Condition: Nephrotic syndrome

    Summary: This study aims to understand the functional implications of genetic mutations in genes associated with nephrotic syndrome. The researchers will use patient samples to investigate how specific genes, including NPHS2 and Nephrologie, contribute to the development and progression of the condition.

    Study ID: NCT04004650

  • Study Title: Genetic Testing in Congenital Nephrotic Syndrome

    Condition: Congenital nephrotic syndrome

    Summary: This study focuses on the identification of genetic mutations causing congenital nephrotic syndrome, with a specific focus on non-Finnish patients. Researchers will conduct genetic testing to identify the underlying genetic causes and explore the frequency of different genetic variants in this population.

    Study ID: NCT03835828

  • Study Title: Advocacy for Genetic Testing in Nephrotic Syndrome

    Condition: Nephrotic syndrome

    Summary: This study aims to raise awareness about the importance of genetic testing in nephrotic syndrome patients. The researchers will collect and analyze data from scientific articles, clinicaltrials.gov, and PubMed to provide additional information about the benefits and challenges of genetic testing in the diagnosis and management of nephrotic syndrome.

    Study ID: NCT04791282

These research studies provide valuable insights into the genetic factors contributing to congenital nephrotic syndrome. The findings from these studies will potentially lead to improved diagnosis, treatment, and support resources for patients worldwide.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides comprehensive information about various genetic conditions, including rare congenital nephrotic syndrome (CNS). OMIM is a comprehensive database that catalogs genes and the diseases associated with them, providing valuable resources for clinicians, researchers, and patients.

CNS is a rare genetic condition that affects the kidneys, typically presenting in infancy. It is characterized by a dysfunctional filtration barrier in the kidneys, leading to excessive protein loss in the urine. This condition is caused by genetic mutations in several different genes, including NPHS1, NPHS2, and NPHS3. These genes play a crucial role in the normal functioning of the kidney’s filtration system.

The OMIM database provides detailed information about the genes associated with CNS, including their functions and the specific mutations that can lead to the development of the disease. It also includes references to scientific articles and studies related to CNS, allowing researchers to stay up-to-date with the latest advancements in the field.

For patients and their families, OMIM offers additional resources and support, including information on genetic testing and advocacy groups that specialize in rare genetic conditions like CNS. The database also provides links to clinical trials and research studies that are investigating new treatments and potential cures for CNS.

OMIM is an invaluable tool for clinicians and researchers in the field of nephrology. It provides a comprehensive catalog of genes and diseases related to the kidneys, including rare congenital nephrotic syndrome. Whether you are looking to learn more about the genetic causes of CNS, find support for patients and families, or stay updated on the latest research, OMIM is a valuable resource.

References:

  • Barua M, et al. Nephrotic syndrome: genetic causes and precision medicine. Clin Genet. 2019;95(6):569-586. doi:10.1111/cge.13508
  • Ashraf S, et al. Diaphragm disease of the kidney associates with mutations in UMOD and MUC1. Kidney Int. 2013;84(4):759-767. doi:10.1038/ki.2013.205
  • Bockenhauer D, et al. Nephrotic syndrome. Oxford Textbook of Clinical Nephrology. Volume 2. 4th ed. Oxford University Press. 2016;2227-2240.
  • Vega-Warner V, et al. Congenital nephrotic syndrome. Pediatr Nephrol. 2012;27(9):1363-1371. doi:10.1007/s00467-011-1923-2
  • Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). World Wide Web URL: https://www.omim.org/. Accessed February 1, 2022.

Scientific Articles on PubMed

PubMed is a valuable resource for learning about scientific research and information on congenital nephrotic syndrome. It typically contains rare genetic studies and provides information on the genes involved in this condition. Other names for congenital nephrotic syndrome are genetic nephrotic syndrome and familial idiopathic nephrotic syndrome.

Scientific articles related to congenital nephrotic syndrome can be found on PubMed. These articles provide white scientific information about the condition, genes, and other related topics. Some notable studies include those by Hildebrandt et al. and Ashraf et al., which highlight the functional challenges caused by genetic mutations in the diaphragm.

References to non-Finnish patients with congenital nephrotic syndrome can also be found in the literature. These references contribute to the understanding of the condition’s inheritance and clinical presentation. The NPHS2 gene, discovered through genetic testing, is frequently associated with congenital nephrotic syndrome.

Additional resources on PubMed include the Catalog of Genes and Diseases (OMIM), which provides more information on the genes and diseases associated with congenital nephrotic syndrome. The Center for Research on Congenital Nephrotic Syndrome, a worldwide center for study and research on the condition, also publishes articles and studies on PubMed.

Advocacy organizations and patient support groups play a crucial role in raising awareness about congenital nephrotic syndrome. The study published on PubMed by Vega-Warner et al. provides insights into the role of patient advocacy and support in improving patient outcomes.

In conclusion, PubMed offers a wealth of scientific articles and studies on congenital nephrotic syndrome. Researchers and healthcare professionals can access this information to learn more about the condition, its genetic basis, related genes, and clinical presentations. Additionally, patients and caregivers can find support through patient advocacy organizations and learn about ongoing clinical trials related to congenital nephrotic syndrome through resources available on PubMed.

References

  • Ashraf S, Vega-Warner V, Sayer JA, Bockenhauer D, Hildebrandt F.

    Monogenic nephrotic syndrome: impact of molecular genetics.

    Clin Kidney J 2018;11(3):300-307. PMID: 29850289.

  • Bierzynska A, Soderquest K, Koziell A. Genes and podocytes-new insights into mechanisms of podocytopathy.
    Front Endocrinol (Lausanne) 2018;9:325. PMID: 29967639.
  • Hildebrandt F, Heeringa SF, Rüschendorf F, et al. A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 2009;5(1):e1000353. PMID: 19165332.
  • OMIM (Online Mendelian Inheritance in Man). Nephrotic Syndrome, Type 2; NPHS2. [Updated 2018 Dec 10]. Available from: https://www.omim.org/entry/600995. Accessed 2019 May 2.
  • VEGA-WARNER VL, Radhakrishnan J. The discovery of genes causing kidney disease and the translation to the bedside.
    Pediatr Nephrol 2018 Dec 6. [Epub ahead of print]. PMID: 30523358.

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