Rare Nephrology News

Disease Profile

C1q 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

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ICD-10

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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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Summary

C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein can also be found deposited throughout the kidneys.[1] It has been thought to be a subgroup of primary focal segmental glomerulosclerosis or to be a combination of several disease groups rather than a single disease.[2] As a disease, it is very similar to minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS).[1][2] Criteria diagnosis includes C1q deposits on the kidney and no evidence of systemic lupus erythematosus.[2] Both children and adult patients may have no symptoms, except for the presence of blood or protein in the urine, or present with swelling of the feet and legs, high blood pressure and kidney insufficiency. The treatment of C1q nephropathy is the same as for MCD or FSGS and includes corticosteroids and other immunosuppressive agents. Further research is needed to establish C1q nephropathy as a recognized distinct clinical entity.[3]

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 Supporting this Disease

References

  1. C1q Nephropathy. Division of Nephrology and Hypertension. UNC Kidney Center. https://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/c1q-nephropathy.
  2. Meyrier A & Apperl GB. Minimal change variants: Mesangial proliferation; IgM nephropathy; C1q nephropathy. UpToDate. January 13, 2016; https://www.uptodate.com/contents/minimal-change-variants-mesangial-proliferation-igm-nephropathy-c1q-nephropathy.
  3. Devasahayam J & cols. C1q Nephropathy: The Unique Underrecognized Pathological Entity. Anal Cell Pathol (Amst).. November 10, 2015; 2015 (490413):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657067/.