In today's board review with Dr. Reichart, we had a question on Fabry Disease. Attached are two articles.
Imp points:
X-linked recessive lysosomal storage disease caused by deficient activity of the lysosomal enzyme alpha galactosidase A.
Biopsy of involved or uninvolved skin is relatively non invasive way of making diagnosis.
Presence of Oval fat bodies and lipid droplets with a lamellar pattern and Maltese cross pattern under polarized microscopy of urinary sediment.
Urinary excretion of globotriaosylceramide (Gb3), also known as ceramide trihexoside (CTH), is another
useful approach to diagnosing.
On EM- Enlarged secondary lysosomes (myeloid or Zebra bodies) packed with lamellated membrane structures . These inclusions can vary in appearance, from granular to lamellated, the latter being more diagnostic.
25-50% patients progress to ESRD. Progression from CKD to ESRD not affected by patient age at onset of CKD or magnitude of proteinuria.
Therapy with alpha-Gal A is associated with improved glomerular architecture and/or reduced glycolipid
deposits in the kidney, possible improvement in renal function.
Imp points:
X-linked recessive lysosomal storage disease caused by deficient activity of the lysosomal enzyme alpha galactosidase A.
Biopsy of involved or uninvolved skin is relatively non invasive way of making diagnosis.
Presence of Oval fat bodies and lipid droplets with a lamellar pattern and Maltese cross pattern under polarized microscopy of urinary sediment.
Urinary excretion of globotriaosylceramide (Gb3), also known as ceramide trihexoside (CTH), is another
useful approach to diagnosing.
On EM- Enlarged secondary lysosomes (myeloid or Zebra bodies) packed with lamellated membrane structures . These inclusions can vary in appearance, from granular to lamellated, the latter being more diagnostic.
25-50% patients progress to ESRD. Progression from CKD to ESRD not affected by patient age at onset of CKD or magnitude of proteinuria.
Therapy with alpha-Gal A is associated with improved glomerular architecture and/or reduced glycolipid
deposits in the kidney, possible improvement in renal function.
"Myelin bodies have been reported in patients without Fabry disease in renal biopsies of patients who received drugs such as chloroquine and hydrochloroquine, presumably by inhibiting lysosomal enzymes such as
ReplyDeletea-glycosidase"