دورية أكاديمية
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report
| العنوان: | Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report |
|---|---|
| المؤلفون: | Pinto E Vairo, F, Pichurin, PN, Fervenza, FC, Nasr, SH, Mills, K, Schmitz, CT, Klee, EW, Herrmann, SM |
| المصدر: | BMC Nephrology , 21 (1) , Article 341. (2020) |
| سنة النشر: | 2020 |
| المجموعة: | University College London: UCL Discovery |
| مصطلحات موضوعية: | Fabry disease, Individualized medicine, LMX1B, Nail-patella-like renal disease |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | text |
| اللغة: | English |
| العلاقة: | https://discovery.ucl.ac.uk/id/eprint/10108731/1/s12882-020-02012-3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10108731Test/ |
| الإتاحة: | https://discovery.ucl.ac.uk/id/eprint/10108731/1/s12882-020-02012-3.pdfTest https://discovery.ucl.ac.uk/id/eprint/10108731Test/ |
| حقوق: | open |
| رقم الانضمام: | edsbas.9503931 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |