Case of Fabry's disease with zebra bodies in kidney reported in NEJM

Dr. Xiaoyan Huang and colleagues at the University of Hong Kong–Shenzhen Hospital, Shenzhen, China have reported an un usual case of Fabry's disease with accumulation of zebra bodies in kidney.The case has been published in the New England journal of medicine.

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. 

Zebra bodies, or myelin-like, lamellar bodies, are intralysosomal inclusion bodies that suggest kidney phospholipidosis (KPL). KPL is the accumulation of phospholipids within any type of kidney cell, including mesangial cells, glomerular endothelial cells, podocytes, or tubular cells.There are certain commonly used medications that can lead to KPL which include:

Amiodarone,Chloroquine,Hydroxychloroquine,Fluoxetine and Gentamicin.

According to history, 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, was unremarkable, but urinalysis revealed proteinuria. The serum creatinine level was 81 μmol per liter (0.9 mg per deciliter) (reference range, 62 to 106 μmol per liter [0.7 to 1.2 mg per deciliter]), and the urinary protein excretion was 1335 mg per 24 hours (reference range, 0 to 140).

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 alpha-galactosidase 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.

For further reference log on to:

Engl J Med 2020; 383:e2

DOI: 10.1056/NEJMicm1912889