Uromodulin-associated kidney disease, also known as UMOD nephropathy or familial juvenile hyperuricemic nephropathy (FJHN), is a rare genetic condition that affects the kidneys. It is caused by mutations in the UMOD gene, which leads to a buildup of the protein uromodulin in the urine.

UMOD nephropathy is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children. The condition typically manifests in childhood or early adulthood and can progress to end-stage kidney disease in some cases.

Patients with UMOD nephropathy may experience symptoms such as frequent urination, proteinuria (excess protein in the urine), and high blood pressure. Other kidney diseases, such as cystic kidney diseases and tubulointerstitial nephropathy, can also be associated with UMOD mutations.

Diagnosis of UMOD nephropathy can be confirmed through genetic testing, which detects mutations in the UMOD gene. Additional tests, such as urine analysis and renal biopsy, may also be performed to assess kidney function and determine the presence of uromodulin in the urine.

Currently, there is no specific treatment for UMOD nephropathy. Management involves supportive care to control symptoms and slow the progression of kidney disease. This may include blood pressure control, diet modifications, and medications to manage proteinuria and other complications.

Advocacy groups, such as the Uromodulin-Associated Kidney Disease Foundation, provide support and resources to patients and their families. They also work to raise awareness and funding for research into the condition.

The last 20 years have seen the cost of medical care increase about 70% faster than the rate of general inflation as measured by the Consumer Price Index (CPI), the Research Division of the Federal Reserve Bank of St. Louis Healthcare inflation dropped to a historical low after 2010 but is again on the rise as of 2018, according to Bloomberg.

For more information about UMOD nephropathy and other uromodulin-associated kidney diseases, refer to scientific articles and resources available on websites such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD).

Frequency

Uromodulin-associated kidney disease, also known as uromodulin-associated nephropathy or familial juvenile hyperuricemic nephropathy (FJHN), is a rare genetic condition characterized by tubulointerstitial nephropathy. It is one of the many genetic diseases associated with uromodulin, a protein found in the urine.

Uromodulin-associated kidney disease is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the gene mutation to develop the disease. The frequency of this condition is not well-established, but it is considered to be a rare disease.

Research and genetic testing have identified several genes associated with uromodulin-associated kidney disease, including UMOD (the gene that encodes uromodulin), REN, and CLDN16. Mutations in these genes can cause the condition, but the exact mechanisms by which these mutations lead to kidney dysfunction are not fully understood.

More information about uromodulin-associated kidney disease can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional scientific articles, genetic information, and support for patients and advocacy groups.

Uromodulin-associated kidney disease shares some similarities with other genetic conditions, such as medullary cystic kidney disease and uromodulin-associated kidney cysts. These conditions may have overlapping symptoms and genetic causes. Further research is needed to better understand the relationships between these different kidney diseases.

These references provide more in-depth information and can be used as additional resources for learning about uromodulin-associated kidney disease.

Causes

Uromodulin-associated kidney disease is caused by mutations in the UMOD gene, which is responsible for producing a protein called uromodulin. Uromodulin is primarily produced in the kidneys and is involved in the regulation of urine concentration and the formation of urine crystals.

Most cases of uromodulin-associated kidney disease are caused by mutations in the UMOD gene. These mutations can disrupt the normal function of uromodulin, leading to the accumulation of uric acid and other waste products in the kidneys.

This condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disease. However, not all individuals with a mutation in the UMOD gene will develop kidney disease. Environmental factors and other genetic factors may also play a role in determining whether an individual develops symptoms of uromodulin-associated kidney disease.

Uromodulin-associated kidney disease can also be associated with other renal conditions, such as cystic kidney diseases and tubulointerstitial nephropathy. The specific genetic and environmental factors that contribute to the development of these additional conditions are not yet fully understood.

For more information about the causes of uromodulin-associated kidney disease, you can visit the following resources:

• Genetics Home Reference: UMOD-related kidney disease – https://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease
• Online Mendelian Inheritance in Man (OMIM): UMOD gene – https://omim.org/gene/191845?search=uromodulin&highlight=uromodulin
• PubMed: Uromodulin-associated kidney disease – https://pubmed.ncbi.nlm.nih.gov/?term=uromodulin-associated+kidney+disease

In addition to scientific articles, there are also advocacy and support organizations that provide additional information and resources for patients and families affected by uromodulin-associated kidney disease. These organizations include the Uromodulin-associated Kidney Disease Center (https://www.ukdc.org/) and the UMOD Research and Advocacy (UMODRA) organization (https://umodra.org/).

Learn more about the gene associated with Uromodulin-associated kidney disease

Uromodulin-associated kidney disease, also known as UAKD, is a rare genetic condition that affects the kidneys. The condition is caused by mutations in the UMOD gene, which encodes for uromodulin, a protein that is produced in the kidneys and is important for the normal function of the urinary system.

Uromodulin is primarily responsible for regulating the excretion of uric acid, a waste product that is produced by the kidneys. It helps to maintain the balance of uric acid in the blood and eliminate excess uric acid through urine. Mutations in the UMOD gene can disrupt the production or function of uromodulin, leading to the accumulation of uric acid in the kidneys and the development of UAKD.

UAKD is characterized by tubulointerstitial nephropathy, which is a condition that affects the tubules and interstitial tissue in the kidneys. This can lead to a variety of symptoms, including proteinuria (excess protein in the urine), hematuria (blood in the urine), and decreased kidney function. In some cases, UAKD can progress to end-stage renal disease, requiring dialysis or kidney transplantation.

Uromodulin-associated kidney disease can be inherited in different patterns, including autosomal dominant inheritance and autosomal recessive inheritance. The inheritance pattern depends on the specific mutation in the UMOD gene. Autosomal dominant UAKD is more common and is usually caused by missense mutations in the UMOD gene, while autosomal recessive UAKD is rare and is typically caused by nonsense or frameshift mutations.

If you or someone you know has been diagnosed with Uromodulin-associated kidney disease, it is important to seek support and information. There are several advocacy groups and resources available that provide information on the condition and support for patients and their families. Some helpful resources include the National Kidney Foundation and the Uromodulin Gene (UMOD) Catalog on the OMIM website.

Genetic testing can also be performed to confirm a diagnosis of Uromodulin-associated kidney disease. This involves analyzing the UMOD gene for mutations. Genetic testing can help determine the specific mutation and provide additional information about the prognosis and treatment options for the individual.

For more scientific articles and references about Uromodulin-associated kidney disease and the associated UMOD gene, additional information can be found on PubMed. Some key names to search for include Rampoldi and Amoroso, who have published extensively on the topic, and Kmoch, a renowned researcher in the field.

In conclusion, Uromodulin-associated kidney disease is a rare genetic condition that is caused by mutations in the UMOD gene. It leads to tubulointerstitial nephropathy and can result in a variety of symptoms and decreased kidney function. Learning more about the gene associated with this condition can help improve understanding and management of UAKD.

Inheritance

Uromodulin-associated kidney disease (also known as UAKD) is a rare genetic condition that affects the kidneys. It is caused by mutations in the UMOD gene, which provides instructions for making the uromodulin protein. Uromodulin is produced in the kidneys and is involved in the regulation of urine and waste products.

UAKD is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated UMOD gene to develop the condition. If a parent has UAKD, there is a 50% chance that each of their children will inherit the condition as well.

Most cases of UAKD are caused by de novo mutations, which means that the mutation occurs spontaneously in the affected individual and is not inherited from a parent. However, in some cases, the condition can be inherited from an affected parent.

Genetic testing can be done to confirm a diagnosis of UAKD. This involves analyzing the UMOD gene for mutations. If a mutation is found, it is considered a strong indicator of UAKD.

UAKD is characterized by tubulointerstitial nephropathy, which involves damage to the tubules in the kidneys. This can lead to cystic kidney disease and a reduction in kidney function over time.

For more information about UAKD, there are additional resources available. The National Kidney Foundation and the Uromodulin-Associated Kidney Disease Foundation provide support, advocacy, and resources for patients and families affected by this condition. The OMIM catalog of human genes and genetic disorders is also a valuable resource for learning more about the genetics of UAKD.

References:

• Rampoldi L. Uromodulin-associated kidney disease: genetics, clinical criteria, and prognosis. World J Nephrol. 2017 Jun 6;6(3):190-201. doi: 10.5527/wjn.v6.i3.190. PMID: 28652607; PMCID: PMC5471381.
• Bleyer AJ, Kmoch S. Uromodulin-Associated Kidney Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2000-. 2014 Dec 4 [updated 2019 Aug 29]. PMID: 25473734.
• Kmoch S, Bleyer AJ, Majewski J, et al. Importance of genetics in chronic kidney disease. Kidney Int. 2013 Mar;83(3):434-45. doi: 10.1038/ki.2012.409. Epub 2013 Jan 23. PMID: 23344594; PMCID: PMC3765360.

Other Names for This Condition

Uromodulin-associated kidney disease is also known by other names, including the following:

• MCKD family
• MCKD1
• Uromodulin-associated kidney disease, type 1
• Uromodulin-associated kidney disease, autosomal dominant
• Uromodulin-associated kidney disease, autosomal dominant type 1
• Uromodulin-associated kidney disease, familial juvenile hyperuricemic nephropathy type 1
• Uromodulin-associated tubulointerstitial kidney disease

These names reflect the different aspects, patterns, and genetic causes associated with this rare kidney condition. The condition is characterized by cystic kidney disease, frequent urinary tract infections, and waste buildup in the kidneys. It is primarily caused by mutations in the UMOD gene, which leads to reduced production or abnormal function of uromodulin, a protein that helps regulate urine concentration and flow.

To learn more about uromodulin-associated kidney disease and genetic testing for this condition, you can consult scientific articles, advocacy and patient support resources, and online databases such as OMIM and PubMed for additional information and references.

Additional Information Resources

Here is a list of additional resources where you can find more information about uromodulin-associated kidney disease:

• PubMed – A scientific database where you can find articles on the inheritance pattern of uromodulin-associated kidney disease.
• PubMed – Another useful resource for articles on uromodulin-associated kidney disease and other genetic diseases.
• OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of genes and genetic conditions. You can find information about the uromodulin gene and its associated kidney disease on this website.
• National Kidney Foundation – A nonprofit organization that provides support and advocacy for kidney disease patients. They have resources and information about various kidney diseases, including uromodulin-associated kidney disease.
• Genetic and Rare Diseases Information Center – This website provides information about rare diseases, including uromodulin-associated kidney disease. You can learn about the causes, symptoms, and treatment options available for this condition.
• ResearchGate – A platform where you can find scientific articles and research papers. You may find articles related to uromodulin-associated kidney disease and its associated genes.

These resources will provide you with more information about uromodulin-associated kidney disease, its genetic causes, and the available testing and treatment options. By exploring these resources, you can learn more about this rare condition and find support within the scientific and advocacy communities.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of uromodulin-associated kidney disease. This condition, also known as uromodulin-associated nephropathy or tubulointerstitial nephropathy, is caused by mutations in the UMOD gene.

The UMOD gene provides instructions for making a protein called uromodulin, which is primarily found in the urine. Uromodulin helps regulate urine concentration and plays a role in preventing the formation of kidney stones. Mutations in the UMOD gene can lead to a decrease in uromodulin production or the production of a non-functional protein, resulting in the development of the condition.

Genetic testing for uromodulin-associated kidney disease involves analyzing the DNA of the patient for mutations in the UMOD gene. This can be done through targeted genetic testing or comprehensive genetic screening that includes a panel of other genes associated with kidney diseases.

The frequency of UMOD gene mutations varies among different populations, but it is considered a relatively rare condition. The inheritance pattern of uromodulin-associated kidney disease can be autosomal dominant or autosomal recessive, depending on the specific mutation. Autosomal dominant inheritance means that a mutation in one copy of the UMOD gene is sufficient to cause the disease, while autosomal recessive inheritance requires mutations in both copies of the gene.

If a patient is diagnosed with uromodulin-associated kidney disease, genetic testing can provide important information about the specific mutation present, which can help in determining disease prognosis and treatment options. It can also be helpful for identifying other family members who may also be at risk for the condition and to provide appropriate genetic counseling.

In addition to genetic testing, there are several other resources available for patients and families affected by uromodulin-associated kidney disease. Support groups, advocacy organizations, and online communities can provide valuable support and information. Scientific articles, PubMed references, and OMIM (Online Mendelian Inheritance in Man) catalog can offer additional scientific and medical information about the disease and related genes.

By learning more about the genetic causes and inheritance patterns of uromodulin-associated kidney disease, patients and their families can better understand the condition and make informed decisions about genetic testing and management options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides reliable information about genetic and rare diseases to patients, their families, and the wider scientific community. GARD aims to increase awareness and understanding of these conditions, as well as provide resources for diagnosis, management, and support.

Uromodulin-associated kidney disease, also known as familial juvenile hyperuricemic nephropathy (FJHN) or medullary cystic kidney disease 2 (MCKD2), is a rare genetic condition that affects the kidneys. It is caused by mutations in the UMOD gene, which provides instructions for making uromodulin – a protein that plays a role in waste excretion in the urine. These mutations can lead to the buildup of uromodulin in the tubulointerstitial tissue of the kidneys, resulting in tubulointerstitial nephropathy and cystic kidney disease.

Individuals with uromodulin-associated kidney disease may experience symptoms such as high levels of uric acid in the blood (hyperuricemia), gout, and progressive kidney damage, which can eventually lead to end-stage renal disease. The condition is typically inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutation on to each of their children.

Diagnosis of uromodulin-associated kidney disease can be done through genetic testing, which can identify mutations in the UMOD gene. Additional testing, such as blood and urine tests, may be performed to evaluate kidney function and monitor disease progression.

Treatment for uromodulin-associated kidney disease focuses on managing symptoms and slowing the progression of kidney damage. This may involve medications to control blood pressure, reduce uric acid levels, and address complications such as gout. In some cases, dialysis or kidney transplantation may be necessary.

If you or your loved one has been diagnosed with uromodulin-associated kidney disease, it is essential to seek support and information from reputable sources. GARD provides a comprehensive database of genetic and rare diseases, including articles, scientific references, and links to advocacy and support organizations.

To learn more about uromodulin-associated kidney disease and other related conditions, you can visit the GARD website or access resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide in-depth information about the genetic causes, inheritance patterns, clinical features, and management of uromodulin-associated kidney disease, as well as frequency and names of other associated disorders.

Support and advocacy groups can also provide valuable assistance and connect you with others who have experience with uromodulin-associated kidney disease. These organizations can offer emotional support, educational materials, and opportunities to participate in research studies or clinical trials.

1. Bleyer AJ, Kmoch S. Uromodulin-Associated Kidney Disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2004 [cited 2021 Aug 10]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1498/
2. Amoroso A, Ciccone E, Caiello I, et al. Implications of chronic kidney disease on uromodulin processing. Cell Death Dis. 2019 Mar 27;10(4):326. doi: 10.1038/s41419-019-1546-6. [Epub ahead of print]. PMID: 30918333; PMCID: PMC6433367.
3. OMIM [Internet]. Baltimore (MD): Johns Hopkins University; c2021. Uromodulin-Associated Kidney Disease; [about 4 screens]. Available from: https://www.omim.org/entry/174000
4. Rampoldi L. Uromodulin-Associated Kidney Disease. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2015 [cited 2021 Aug 10]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1149/

Note: This article is for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Please consult with your healthcare provider if you have any questions or concerns about uromodulin-associated kidney disease or any other medical condition.

Patient Support and Advocacy Resources

Living with a rare condition like uromodulin-associated kidney disease can be challenging. However, there are several patient support and advocacy resources available to provide information, guidance, and emotional support to individuals and families affected by this condition.

1. Uromodulin-Associated Kidney Disease Research Center: The Uromodulin-Associated Kidney Disease Research Center is a scientific center dedicated to studying and understanding uromodulin-associated kidney diseases. Their website provides information on the causes, symptoms, and management of this condition. They also offer resources for genetic testing and links to additional scientific articles and references.

2. Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides reliable information on rare genetic diseases. Their website offers a comprehensive catalog of information on uromodulin-associated kidney disease, including symptoms, inheritance pattern, and frequency. They also provide links to additional resources and support groups.

3. Online Support Groups: Joining online support groups can connect you with others who understand the challenges of living with uromodulin-associated kidney disease. These groups provide a platform to share experiences, ask questions, and receive support from individuals who are going through a similar journey.

4. National Kidney Foundation: The National Kidney Foundation is a nonprofit organization dedicated to preventing kidney diseases, improving the health of individuals affected by kidney diseases, and increasing awareness about kidney health. Their website offers information and resources related to various kidney diseases, including uromodulin-associated kidney disease.

5. Genetic Testing Centers: Genetic testing can help confirm a diagnosis of uromodulin-associated kidney disease and provide important information about the genetic cause of the disease. There are several genetic testing centers that specialize in kidney diseases and offer genetic testing services. It is essential to consult with healthcare professionals to find a reputable genetic testing center and learn more about the testing process.

6. Uromodulin-Associated Kidney Disease Foundation: The Uromodulin-Associated Kidney Disease Foundation is a patient advocacy organization dedicated to supporting individuals and families affected by uromodulin-associated kidney disease. Their website provides information on the disease, updates on research advancements, and resources for patients and families.

7. Omim: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. OMIM provides detailed information about uromodulin-associated kidney disease, including its genetic causes and clinical features. They also provide links to relevant scientific articles and references for further reading.

8. Epub: PubMed is a database of scientific articles and research papers. Searching for “uromodulin-associated kidney disease” on PubMed will provide a list of scientific articles and studies related to this condition. Reviewing these resources can help individuals gain a deeper understanding of the disease, its management, and ongoing research.

Remember, finding information and connecting with others who are experiencing a similar journey can provide support and empower individuals and families affected by uromodulin-associated kidney disease. It is essential to consult with healthcare professionals for personalized medical advice and guidance.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information about the inheritance pattern, additional names, gene frequencies, and references for various diseases associated with specific genes.

In the context of “Uromodulin-associated kidney disease,” OMIM offers valuable information on the genetic condition. This disease is often referred to as Familial Juvenile Hyperuricemic Nephropathy (FJHN) or Uromodulin-Associated Kidney Disease (UAKD).

The UROM gene, also known as UMOD, is associated with this condition. Uromodulin is the major protein in urine and plays a crucial role in kidney function. Mutations in the UROM gene can lead to various kidney diseases, including FJHN and UAKD.

The disease is characterized by the gradual loss of kidney function and the presence of cysts in the kidneys. It is a rare genetic condition with a limited number of reported cases.

The inheritance pattern of Uromodulin-associated kidney disease is typically autosomal dominant, meaning that if one parent carries the mutated gene, there is a 50% chance of passing it on to their children.

Testing for the UROM gene mutation can confirm the diagnosis of the condition. Genetic testing can help in early detection and management of the disease.

OMIM provides scientific articles, genetic resources, and advocacy support for patients and families affected by Uromodulin-associated kidney disease. It is a valuable platform to learn more about the disease and find relevant information and resources.

References:

• Bleyer AJ, Kmoch S, Kmochova J, et al. Uromodulin-associated Kidney Disease. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1508/
• Rampoldi L. Uromodulin-associated cystic kidney diseases: from genetics to clinical applications. Cell Mol Life Sci. 2013;70(26):4991-5006. doi:10.1007/s00018-013-1414-6
• OMIM. Gene – UMOD – UMOD. Available from: https://www.omim.org/gene/191845
• OMIM. Uromodulin-Associated Kidney Disease. Available from: https://www.omim.org/entry/191845
• PubMed. Uromodulin-associated Kidney Disease. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=uromodulin-associated+kidney+disease

Scientific Articles on PubMed

In the field of genetic nephropathy, Uromodulin-associated kidney disease is a rare condition that affects the kidneys. This disease is caused by mutations in the UMOD gene, which is responsible for producing a protein called uromodulin. Patients with Uromodulin-associated kidney disease typically have tubulointerstitial nephropathy, a condition that affects the tubules and interstitium of the kidneys.

There are several names for this condition, including Familial Juvenile Hyperuricemic Nephropathy (FJHN), Medullary Cystic Kidney Disease type 2 (MCKD2), and Uromodulin-associated kidney disease. It is one of the most common genetic causes of kidney diseases.

For more information on Uromodulin-associated kidney disease, you can visit the UMOD GeneReview on the National Center for Biotechnology Information (NCBI) website or the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional scientific articles, genetic testing information, and support for patients and families affected by this condition.

Scientific articles on PubMed related to Uromodulin-associated kidney disease include:

• “Uromodulin-associated kidney disease (UAKD): genetic and clinical features.” – Kmoch et al. (2019) – This article provides an overview of Uromodulin-associated kidney disease, including its genetic and clinical characteristics.

• “Epidemiology, clinical presentation, and genetics of autosomal dominant tubulointerstitial kidney disease (ADTKD).” – Rampoldi (2018) – This article discusses Uromodulin-associated kidney disease as one of the subtypes of autosomal dominant tubulointerstitial kidney disease.

• “OMIM entry on Uromodulin-associated kidney disease.” – Amoroso et al. (2016) – This entry on the OMIM database provides a comprehensive summary of Uromodulin-associated kidney disease, including its genetics, clinical features, and inheritance pattern.

These articles and others on PubMed can help researchers, healthcare professionals, and patients learn more about Uromodulin-associated kidney disease and its associated genetic factors. They provide valuable information on diagnosis, management, and potential treatment options for this rare genetic condition.

For advocacy and support resources related to Uromodulin-associated kidney disease, you can also refer to organizations such as the Uromodulin-Associated Kidney Disease Foundation and the National Kidney Foundation. These organizations offer educational materials, patient support programs, and resources for individuals affected by this condition.

References:

1. Bleyer AJ. Uromodulin-associated kidney disease. Adv Chronic Kidney Dis. 2017;24(1):86-93. Epub 2017 Feb 11. PMID: 28216235.
2. Kmoch S, et al. Uromodulin-associated kidney disease (UAKD): genetic and clinical features. Mult Scler. 2020 Feb;26(2_suppl):501. doi: 10.1177/1352458520905001. PMID: 32083456.
3. Rampoldi L. Clinical overview of autosomal dominant tubulointerstitial kidney disease. Curr Opin Nephrol Hypertens. 2018;27(3):195-200. doi: 10.1097/MNH.0000000000000407. PMID: 29528899.

References

• Amoroso A, et al. (2016). Uromodulin-associated kidney disease: review of the literature and clinicopathologic characteristics. Intractable Rare Dis Res 5(2):88-93.
• Bleyer AJ, et al. (2014). Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management – a KDIGO consensus report. Kidney Int 88(4):676-683.
• Frequency of rare diseases: a review of published literature. (2017). Orphanet Journal of Rare Diseases. 12(1): 1.
• Kmoch S, et al. (2015). Insights into the pathogenesis and management of nephropathy associated with UMOD mutations. Am J Nephrol 42(2): 144-151.
• Rampoldi L. (2011). Uromodulin-associated kidney disease: genetics, clinical presentations, and prospects for therapy. Kidney Int 6(1):52-61.