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). F...
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doaj-5adc8386c8d1429f839e2fa730c80d992020-11-25T03:46:03ZengBMCBMC Nephrology1471-23692020-08-012111510.1186/s12882-020-02012-3Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case reportFilippo Pinto e Vairo0Pavel N. Pichurin1Fernando C. Fervenza2Samih H. Nasr3Kevin Mills4Christopher T. Schmitz5Eric W. Klee6Sandra M. Herrmann7Center for Individualized Medicine, Mayo ClinicCenter for Individualized Medicine, Mayo ClinicDivision of Nephrology and Hypertension, Department of Medicine, Mayo ClinicDepartment of Laboratory Medicine and Pathology, Mayo ClinicUCL Institute of Child Health, Great Ormond Street HospitalDepartment of Biochemistry and Molecular Biology, Mayo ClinicCenter for Individualized Medicine, Mayo ClinicDivision of Nephrology and Hypertension, Department of Medicine, Mayo ClinicAbstract 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.http://link.springer.com/article/10.1186/s12882-020-02012-3Fabry diseaseLMX1BNail-patella-like renal diseaseIndividualized medicine |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Filippo Pinto e Vairo Pavel N. Pichurin Fernando C. Fervenza Samih H. Nasr Kevin Mills Christopher T. Schmitz Eric W. Klee Sandra M. Herrmann |
spellingShingle |
Filippo Pinto e Vairo Pavel N. Pichurin Fernando C. Fervenza Samih H. Nasr Kevin Mills Christopher T. Schmitz Eric W. Klee Sandra M. Herrmann Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report BMC Nephrology Fabry disease LMX1B Nail-patella-like renal disease Individualized medicine |
author_facet |
Filippo Pinto e Vairo Pavel N. Pichurin Fernando C. Fervenza Samih H. Nasr Kevin Mills Christopher T. Schmitz Eric W. Klee Sandra M. Herrmann |
author_sort |
Filippo Pinto e Vairo |
title |
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report |
title_short |
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report |
title_full |
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report |
title_fullStr |
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report |
title_full_unstemmed |
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report |
title_sort |
nail-patella-like renal disease masquerading as fabry disease on kidney biopsy: a case report |
publisher |
BMC |
series |
BMC Nephrology |
issn |
1471-2369 |
publishDate |
2020-08-01 |
description |
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 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. |
topic |
Fabry disease LMX1B Nail-patella-like renal disease Individualized medicine |
url |
http://link.springer.com/article/10.1186/s12882-020-02012-3 |
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