Rare Autoimmune Kidney Disorder Seen With Fabry Disease

Marisa Wexler MS avatar

by Marisa Wexler MS |

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The case of a man with Fabry disease that co-occurred with a rare autoimmune kidney disorder was described in a recent report.

While it’s possible that the rare combination was coincidental, researchers speculated that damage to the kidneys resulting from Fabry disease might have set the stage for the autoimmune disorder to develop.

The report, “Fabry Disease Associated With Antiglomerular Basement Membrane Disease: Chance or Consequence,” was published in Kidney International Reports.

Anti-glomerular basement membrane disease (anti-GBM disease), also called Goodpasture syndrome, is a rare autoimmune disorder that causes damage to the kidneys. The condition is marked by the presence of antibodies that target a part of the kidneys called the glomerular basement membrane, or GBM, where the disease gets its name.

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Fabry disease is caused by mutations in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A (Gal A) that’s needed to break down certain fatty molecules. Without a functioning version of the enzyme, abnormal deposits of these molecules build up to toxic levels in the body’s tissues.

A team of U.S.-based scientists described the case of a 29-year-old man who sought medical attention due to unexplained nausea, vomiting, and pain across his abdomen and sides.

Laboratory tests showed signs of kidney damage, such as increased protein levels in the urine. He also tested positive for antibodies against the GBM. This prompted a kidney biopsy, which showed signs of antibody-driven damage consistent with anti-GBM disease, confirming the diagnosis.

The biopsy also revealed multiple deposits in the kidney cells, similar to what is typically seen in Fabry disease. A diagnosis of Fabry was confirmed with further testing that showed abnormally low Gal A levels and GLA mutations.

While the occurrence of both rare diseases in the same person could be coincidental, the researchers speculated that they might be biologically linked.

Specifically, the researchers noted that Fabry disease causes damage to podocytes, a type of kidney cell responsible for making type IV collagen, a structural protein essential to GBM function and often targeted by the autoimmune attack in anti-GBM disease.

“Hypothetically, in this patient, podocyte injury caused by Fabry disease resulted in synthesis of abnormal type IV collagen,” which may have set the stage for the development of anti-GBM disease, the researchers wrote.