Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.

ABSTRACT:

Background

Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail-patella-like renal disease (NPLRD). Fabry disease (FD) is an X-linked lysosomal disease caused by the deficiency of alpha-galactosidase A. The classic form of the disease is characterized by acroparesthesia, angiokeratomas, cornea verticillata, hypertrophic cardiomyopathy, strokes, and chronic kidney disease. Podocyte myelin bodies on ultrastructural examination of kidney tissue are very characteristic of FD; however some medications and other conditions may mimic this finding.

Case presentation

Here, we report on a female pa

SUBMITTER: Pinto E Vairo F 

PROVIDER: S-EPMC7424659 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature