Multicentric osteolysis nephropathy

Multicentric Osteolysis Nephropathy (MON), also known as Torg-Winchester syndrome, is a rare genetic disorder characterized by progressive bone destruction (osteolysis), particularly in the hands and feet, and chronic kidney disease (nephropathy). This condition is part of a group of disorders known as the osteolysis syndromes. The exact prevalence of MON is unknown due to its rarity, but it has been reported in a limited number of families worldwide.

Causes

MON is caused by mutations in the MMP2 gene, which encodes for the enzyme matrix metalloproteinase-2. This enzyme plays a crucial role in the breakdown and remodeling of the extracellular matrix, a complex framework that supports and surrounds cells within tissues. Mutations in the MMP2 gene disrupt the normal balance of bone remodeling, leading to excessive bone resorption and the characteristic features of the disorder.

Symptoms

The symptoms of Multicentric Osteolysis Nephropathy can vary significantly among affected individuals but generally include:

• Progressive osteolysis, especially in the carpal and tarsal bones of the hands and feet, leading to deformities and loss of function.
• Nephropathy, which may progress to chronic kidney disease or end-stage renal disease, requiring dialysis or kidney transplantation.
• Additional features can include short stature, distinctive facial features, and skin abnormalities.

Diagnosis

The diagnosis of MON is primarily based on clinical evaluation and the characteristic features of the disease. Genetic testing can confirm a diagnosis by identifying a mutation in the MMP2 gene. Imaging studies, such as X-rays, can reveal the extent of bone destruction and help in assessing the progression of the disease.

Treatment

There is no cure for Multicentric Osteolysis Nephropathy, and treatment focuses on managing symptoms and preventing complications. This may include:

• Orthopedic interventions to address bone deformities and improve mobility.
• Renal management, including monitoring of kidney function and treatment of kidney disease.
• Pain management and physical therapy to maintain function and quality of life.

Prognosis

The prognosis for individuals with MON varies depending on the severity of symptoms and the progression of kidney disease. Early intervention and comprehensive management can improve the quality of life for affected individuals.

See also

• Osteolysis
• Chronic kidney disease
• Genetic disorder

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