Concentric lamellar spheres in urine from a female carrier of and patients with Fabry's disease--with special reference to polarization and electron microscopic comparison with nephrotic syndrome.

Abstract

ABSTRACTIn urine samples of patients with Fabry's disease (angiokeratoma corporis diffusum, ACD) mulberry cells appear, exhibiting the ‘Maltese cross’ with polarized light; they are said to be characteristic of this disease. However, their diagnostic significance has never been clearly defined. It is also well known that patients with this disease have electron‐dense periodical lamellar bodies in the cells of various organs. Several electron microscopic investigations have demonstrated such lamellar bodies in urine samples from hemizygous male patients, but it remains unclarified whether heterozygous female carriers excrete similar bodies in urine. We examined urine samples from a female carrier of ACD and two hemizygotes with the disease, as well as from three patients with nephrotic syndrome. With the light microscope, mulberry cells with ‘Maltese cross’ were detected in all six patients, suggesting that these cells are not diagnostic for ACD. With the electron microscope, concentric lamellar spheres were found in the heterozygous female carrier and two hemizygous males, but not in patients with nephrotic syndrome. This is the first report describing urinary laminated bodies in a female carrier of ACD. It is concluded that the demonstration of mulberry cells with ‘Maltese cross’ as well as concentric lamellar bodies in urine is helpful in detecting female carriers of ACD and hemizygotes as young as 7 years of age, before they exhibit definite clinical manifestations.