Fabry's Disease with Zebra Bodies in the Kidney- NEJM case r
Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases.

A 21-year-old man with a 10-year history of intermittent burning pain in his arms and legs presented to the nephrology clinic after noticing foamy urine for 1 month. The physical examination, which included a neurologic evaluation, unremarkable, but urinalysis revealed proteinuria. The serum creatinine level was 81 µmol per liter (0.9 mg per deciliter), and the urinary protein excretion was 1335 mg per 24 hours. Biopsy of the kidney showed the presence of vacuoles within podocytes.

Electron microscopy revealed layered membrane structures appearing as so-called zebra bodies within enlarged lysosomes in the podocytes. A diagnosis of Fabry’s disease was confirmed when a mutation in the gene encoding alpha galactosidase A (GLA) was detected. Fabry’s disease is an X-linked lysosomal storage disorder caused by mutations that result in low or absent activity of the enzyme alphagalactosidase A. This deficiency results in the accumulation of globotriaosylceramide in cells, resulting in the formation of the characteristic zebra bodies.

Treatment of Fabry’s disease includes enzyme-replacement therapy; however, this treatment was not available where the patient was living. Carbamazepine was initiated for pain management. At the 10-month follow-up, he continued to have proteinuria but had a normal creatinine level, and his pain was well controlled.

Source: https://www.nejm.org/doi/full/10.1056/NEJMicm1912889?rss=searchAndBrowse
G●●●●●i S●i S●●●●●●●a G●●●●●●i and 1 others like this2 shares
Like
Comment
Share