Rare Nephrology News

Disease Profile

Crystal arthropathies

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

Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropathy which is a rare cause of arthritis characterized by deposition of calcium oxalate crystals within synovial fluid and typically occurs in patients with underlying primary or secondary hyperoxaluria. These crystals are responsible for different rheumatic syndromes, including acute or chronic synovial inflammation and cartilage degeneration. Treatment depends on the specific condition.[1][2]

References

  1. Fuerst M, Zustin J & Rüther W. Crystal arthropathies. Pathologe. 2011 May;. May, 2011; 32(3):193-9. https://www.ncbi.nlm.nih.gov/pubmed/21512754. Accessed 10/1/2015.
  2. Lorenz EC, Michet CJ, Milliner DS & Lieske JC. Update on oxalate crystal disease. Curr Rheumatol Rep. July, 2013; 15(7):340. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710657/. Accessed 10/1/2015.
  3. Pascart T, Richette P & Flipo RM. Treatment of Nongout Joint Deposition Diseases: An Update. Arthritis. 2014; 2014:Article ID 375202. https://www.hindawi.com/journals/arthritis/2014/375202/. Accessed 10/3/2015.