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Fabry's Disease

Doe's Gaucher's Disease Affect the Kidney

Gaucher Disease

Gaucher Disease is an inherited disease where a fatty carbohydrate, glucocerebroside, is not metabolized, and thus accumulates in body organs and tissues. It is seen among Jews of European descent (Ashkanazic Jews) at the rate of 1 per 1000.

The signs and symptoms are generally related to the accumulation of glucocerebroside in the liver, spleen and bone marrow - thus patients may have an enlarged liver and spleen, as well as anemia.

Genes transfer the code or instruction set that allows all living things to dubplicate. Half of our genes come from our father, the other from our mother. Genes can either be dominant or recessive. Gaucher's gene is recessive.

Thus there can be gene carriers. When both parents are carriers, the risk of having a child with Gaucher Disease is one in four.

There are three types of Gaucher Disease

Type 1 - the adult form - a chronic disease with no neurologic involvement.

Type 2 - A rare form involving the nervous system that appears in infants. Seizures can develop.

Type 3 - A chronic form that appears in teens. Neurologic involvement is gradual and symptoms may include incoordination and paralysis.

Excellent websites on Gaucher Disease are The Israeli Gaucher Association and the Gaucher Disease Homepage.

Renal Lesions

The question was what is the lesion in the kidney. I was unable to find an association between Gaucher's Disease and kidney lesions. I also searched CHORUS - the Collaborative Hypertext of Radiology. Pubmed, the medical literature search engine of the National Library of Medicine does give a quite extensive review of imaging of tumors in the kidney.



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