Rare Endocrinology News

Disease Profile

IgA nephropathy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Nephritis, IGA type; IGAN; Glomerulonephritis, IGA;

Categories

Kidney and Urinary Diseases

Summary

IgA nephropathy is a kidney disorder that occurs when IgA (immunoglobulin A), a protein that helps the body fight infections, settles in the kidneys. IgA nephropathy can occur at any age, even in childhood. After many years, deposits of IgA may cause the kidneys to leak blood and sometimes protein in the urine. In the early stages, IgA nephropathy has no symptoms. The first sign of this condition may be blood in the urine. After 10 to 20 years, the kidneys may show signs of damage and 20-40% of adults develop end-stage kidney disease.[1]

In most instances, the cause of this condition is unknown; however, certain disorders have been linked with IgA nephropathy, such as cirrhosis of the liver, celiac disease, and HIV infection. Although IgA nephropathy usually occurs in a family with no other affected members, several cases of familial IgA nephropathy have been reported.[2] Familial IgA nephropathy is suspected to run through families in an autosomal dominant manner and is linked to genetic material on the long arm of chromosome 6 (6q22-23).[2][3] There is no cure for this condition. Treatment focuses on slowing the disease and preventing complications.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Arthralgia
Joint pain
0002829
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Hematuria
Blood in urine
0000790
Hypertension
0000822
IgA deposition in the glomerulus
0000794
Nephritis
Kidney inflammation
0000123
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Purpura
Red or purple spots on the skin
0000979
Stage 5 chronic kidney disease
0003774

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss IgA nephropathy. Click on the link to view a sample search on this topic.

          References

          1. IgA Nephropathy. National Institute of Diabetes and Digestive and Kidney Diseases. November 2015; https://www.kidney.niddk.nih.gov/kudiseases/pubs/iganephropathy/.
          2. Brake, M. IgA Nephropathy. Medscape. July 23, 2016; https://emedicine.medscape.com/article/239927.
          3. Victor A. McKusick. IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1. In: Ada Hamosh. OMIM. 2/17/2016; https://www.omim.org/entry/161950.