Rare Nephrology News

Disease Profile

Renal medullary carcinoma

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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Other names (AKA)

Kidney Medullary Carcinoma

Categories

Kidney and Urinary Diseases

Summary

Renal medullary carcinoma is a rare kidney cancer that mostly affects young people with African ancestry.[1] The tumor develops in the medulla of the kidney. The first sign is often blood in the urine (hematuria). Patients may also develop flank pain or feel a lump in the abdomen that is usually on the right side of the body. Having sickle cell trait is a risk factor for developing renal medullary carcinoma. Treatment options include surgery to take out part or all of the kidney (radical nephrectomy), chemotherapy, and palliative radiation therapy. In most cases, the disease is advanced when the diagnosis is made and has spread to other parts of the body (metastasis).[2][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

    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.

    In-Depth Information

    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

      References

      1. Kidney Medullary Carcinoma. NCI Thesaurus. https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=CL448379. Accessed 12/1/2016.
      2. Alappan N, Marak CP, Chopra A, Joy PS, Dorokhova O & Guddati AK. Renal Medullary Cancer in a Patient with Sickle Cell Trait. Case Reports in Oncological Medicine, 2013, Article ID 129813. 2013; https://www.hindawi.com/journals/crionm/2013/129813/.
      3. Shah AY & cols. Management and Outcomes of Patients with Renal Medullary Carcinoma: A Multi-Center Collaborative Study. BJU Int. November 8, 2016; https://www.ncbi.nlm.nih.gov/pubmed/27860149.