TY - JOUR
T1 - Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy
T2 - A case report
AU - Pinto E Vairo, Filippo
AU - Pichurin, Pavel N.
AU - Fervenza, Fernando C.
AU - Nasr, Samih H.
AU - Mills, Kevin
AU - Schmitz, Christopher T.
AU - Klee, Eric W.
AU - Herrmann, Sandra M.
N1 - Publisher Copyright:
© 2020 The Author(s).
PY - 2020/8/13
Y1 - 2020/8/13
N2 - 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 patient with chronic kidney disease (CKD), positive family history for kidney disease and kidney biopsy showing a FSGS lesion and presence of focal myelin figures within podocytes concerning for FD. However, genetic testing for FD was negative. After comprehensive clinical, biochemical, and genetic evaluation, including whole exome and RNA sequencing, she was ultimately diagnosed with NPLRD. Conclusions: This case illustrates the difficulties of diagnosing atypical forms of rare Mendelian kidney diseases and the role of a multidisciplinary team in an individualized medicine clinic setting in combination with state-of-the-art sequencing technologies to reach a definitive diagnosis.
AB - 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 patient with chronic kidney disease (CKD), positive family history for kidney disease and kidney biopsy showing a FSGS lesion and presence of focal myelin figures within podocytes concerning for FD. However, genetic testing for FD was negative. After comprehensive clinical, biochemical, and genetic evaluation, including whole exome and RNA sequencing, she was ultimately diagnosed with NPLRD. Conclusions: This case illustrates the difficulties of diagnosing atypical forms of rare Mendelian kidney diseases and the role of a multidisciplinary team in an individualized medicine clinic setting in combination with state-of-the-art sequencing technologies to reach a definitive diagnosis.
KW - Fabry disease
KW - Individualized medicine
KW - LMX1B
KW - Nail-patella-like renal disease
UR - http://www.scopus.com/inward/record.url?scp=85089502677&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85089502677&partnerID=8YFLogxK
U2 - 10.1186/s12882-020-02012-3
DO - 10.1186/s12882-020-02012-3
M3 - Article
C2 - 32791958
AN - SCOPUS:85089502677
SN - 1471-2369
VL - 21
JO - BMC Nephrology
JF - BMC Nephrology
IS - 1
M1 - 341
ER -