Oxalosis

 

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Definition/Description

Oxalosis is a rare metabolic disorder in which the kidneys are unable to eliminate Calcium Oxalate Crystals through the urine. The excess crystals then collect in other parts of the body, accumulating first in the blood, then the eyes, bones, muscles, blood vessels, heart and other major organs. If untreated Oxalosis can lead to death.

Prevalence

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Characteristics/Clinical Presentation

Oxalosis can present with a multitude of symptoms depending upon the severity and progression of the condition. Oxalate crystals can be formed in various bodily structures including the blood, eyes, bones, muscles, heart and other organs. Depending on where the excess accumulation of oxalate is located, patients are going to present differently. If excess oxalate accumulates in the bones, synovium, cartilage, or tendons, pain may present similarly to that of arthropathy (disease of a joint). When oxalate deposits in the synovium of joints, excessive inflammation can procure, often resembling arthralgias (joint pain). The most common joints often affected by systemic Oxalosis are the proximal interphalangeal and metacarpophalangeal joints, knees, elbows and ankles. Excess oxalate crystals in the bones may also present as fractures, or just bone pain. Oxalosis affecting muscles could display as generalized aching or cramping of a muscle. A patient with Oxalosis can present with anemia or with skin ulcers. Due to the fact that the heart can be affected by Oxalosis and higher levels of calcium are circulating in the body, the function of the heart may be hindered. For instance patients with Oxalosis can present with cardiac arrhythmias or with cardiomyopathy. In some cases, oxalosis has been known to affect neural structures. When oxalate deposits around nerves, patients can report sensation abnormalities (tingling, numbness, shooting pain), as well as progressive strength deficits.
Hyperoxaluria, the primary cause of Oxalosis, may exhibit many different types of symptoms. Depending on the progression and severity, symptoms may first develop at birth or during adulthood. Although people will present differently depending upon the underlying mechanism for developing the condition, the first sign or symptom of Hyperoxaluria is often the presence of blood or pain during micturition. Other common symptoms that appear during the initial stages of the disease are an infection of the urinary tract or passing of a kidney stone. Although only reported in a minimal number of cases, the presence of the condition may first present as kidney failure. Also, others may not present with overwhelming symptoms initially and may be unaware until the third to fifth decades of life.

Associated Co-morbidities

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Medications

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Diagnostic Tests/Lab Tests/Lab Values

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Etiology/Causes

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Systemic Involvement

Once the kidneys are no longer able to keep up with excreting oxalate, the crystals begin to accumulate in the blood. Once the oxalate crystals begin circulating in the blood stream, they are free to deposit into other structures of the body. Due to the vast structures that can be affected by oxalosis, the disease can become fatal when accumulation becomes excessive. Structures commonly affected by the disease are listed in the definition and clinical presentation sections above.

Medical Management (current best evidence)

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Physical Therapy Management (current best evidence)

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Differential Diagnosis

Arthralgias

Muscle_Strain
Ligament_Sprain

Osteoarthritis
Rheumatoid_Arthritis
Gout
Bursitis
Tenosynovitis
Synovitis
Spinal_Stenosis
Myopathies
Polyradiculoneuropathy
Cardiac Abnormalities (arrhythmias, valvular abnormalities)
Cardiopulmonary (palpitations, syncope, dyspnea)
Gastrointestinal Disorders

Case Reports/ Case Studies

Horta-Baas G, Vargas-Gutiérrez C, Barile-Fabris L. Large Joint Destructive Arthropathy and Tumoral Calcinosis Associated to Primary Oxalosis: Case Report and Literature Review. Reumatologia Clinica [serial online]. May 2013;9(3):181-185. Available from: Academic Search Complete, Ipswich, MA. Accessed March 31, 2016.

www.reumatologiaclinica.org/en/large-joint-destructive-arthropathy-tumoral/articulo/S217357431300049X/

Stepien K, Prinsloo P, Hitch T, McCulloch T, Sims R. Acute Renal Failure,Microangiopathic Haemolytic Anemia, and Secondary Oxalosis in a Young Female Patient. International Journal Of Nephrology [serial online]. January 2011;:1-5. Available from: Academic Search Complete, Ipswich, MA. Accessed March 31, 2016.

www.hindawi.com/journals/ijn/2011/679160/

Resources

Mayo Clinic Hyperoxaluria Center:
Phone: 1-800-270-4637
Email: [email protected]
For additional information on the disease and the Hyperoxaluria Center:
Website:nephrology-rst/hyperoxaluriacenter.html
Facebook page: Primary Hyperoxaluria Disease-Mayo Clinic: Contains information and tips about kidney stones, kidney stone prevention and management, and hyperoxaluria, and notifications about upcoming meetings and conferences.
The Rare Kidney Stone Consortium: www.rarekidneystones.org

The Oxalosis and Hyperoxaluria Foundation: www.ohf.org

Recent Related Research (from Pubmed)

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References

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