Could Ultrasounds Quicken Fabry Disease Diagnosis?

New research suggests that ultrasounds could be a new diagnostic tool for patients with a rare lysosomal storage disorder. According to Fabry Disease News, kidney dysfunction is characteristic in Fabry disease. Although renal cysts, or cysts occurring in or on the kidneys, are usually associated with some form of kidney disease, researchers now believe that these cysts could suggest Fabry disease instead. Check out the study findings in the Journal of Rare Diseases Research & Treatment.

Ultrasounds & Kidney Dysfunction

According to the Mayo Clinic, renal cysts are:

round pouches of fluid that form on or in the kidneys. Kidney cysts can be associated with serious disorders that may impair kidney function.

These disorders include cystic kidney disease, MODY 5, and autosomal dominant polycystic kidney disease. Symptoms of kidney cysts include fever, abdominal pain, and a dull ache in the back or sides. However, an ultrasound can identify whether or not kidney cysts are present even with no other signs of disease. In these cases, it could signify something along the lines of Fabry disease.

Brazilian researchers wanted to study the kidneys of patients with chronic kidney disease (CKD). Overall, 91 patients enrolled in the study. Of these patients, 37 (41%) were diagnosed with Fabry disease and 54 (59%) were the control group with other types of kidney disease. Researchers then used ultrasound to look at and analyze the kidneys.

Researchers discovered that 24.1% of patients with kidney disease had cysts on their kidneys compared with 54.1% of patients with Fabry. In both groups, cysts were around the same size and could be found in other organs. However, patients with Fabry were more likely to have cysts on one specific kidney.

As a result, researchers now suggest that ultrasound can be used to identify and diagnose Fabry disease. Again, the results would highlight kidney cysts without any additional kidney disease symptoms.

Fabry Disease

Fabry disease is a genetic, lysosomal storage disorder caused by caused by α-Galalactosidase A (α-Gal A) deficiency. When someone is α-Gal A deficient, they are unable to process a kind of fat called globotriaosylceramide. When this fat accumulates in cells, it causes a variety of symptoms and health issues. Typically, this accumulation begins in childhood, though disease onset can occur later in life. In late-onset cases, the kidneys and heart are mostly impacted. Because the condition is X-linked, it affects males significantly more than females. An estimated 1 in every 40,000-60,000 males is affected. However, females can also be affected, experiencing pain, gastrointestinal distress, and even renal issues. Symptoms may be mild or life-threatening. These include:

  • Hearing loss
  • Tinnitus (ringing in the ears)
  • Gastrointestinal distress
  • Hypohidrosis (inability to sweat)
  • Recurrent pain in the hands and feet
  • Dizziness
  • Stroke and heart attack
  • Kidney damage
  • Dull and cloudy vision
  • Temperature intolerance (to heat or cold)
  • Fatigue
  • Fever
  • Small, dark bundles of red spots on the skin

Learn more about Fabry disease.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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