A Case of Transforming Growth Factor-β-Induced Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy
| Autor: | Ichiei Narita, Tetsuo Morioka, Yuko Oyama, Yoichi Iwafuchi, Kazumoto Iijima, Kandai Nozu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
medicine.medical_specialty
Pathology Protein-protein interactions 030232 urology & nephrology Corneal dystrophy Case Report Granular corneal dystrophy type II Nephropathy Extracellular matrix 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Basement membrane Kidney business.industry Glomerular basement membrane Oculorenal syndrome medicine.disease eye diseases Granular corneal dystrophy medicine.anatomical_structure Endocrinology Nephrology 030221 ophthalmology & optometry Transforming growth factor-β-induced gene Next-generation sequencing business TGFBI |
| Zdroj: | Case Reports in Nephrology and Dialysis |
| ISSN: | 2296-9705 |
| Popis: | Many types of inherited renal diseases have ocular features that occasionally support a diagnosis. The following study describes an unusual example of a 40-year-old woman with granular corneal dystrophy type II complicated by renal involvement. These two conditions may coincidentally coexist; however, there are some reports that demonstrate an association between renal involvement and granular corneal dystrophy type II. Granular corneal dystrophy type II is caused by a mutation in the transforming growth factor-β-induced (TGFBI) gene. The patient was referred to us because of the presence of mild proteinuria without hematuria that was subsequently suggested to be granular corneal dystrophy type II. A kidney biopsy revealed various glomerular and tubular basement membrane changes and widening of the subendothelial space of the glomerular basement membrane by electron microscopy. However, next-generation sequencing revealed that she had no mutation in a gene that is known to be associated with monogenic kidney diseases. Conversely, real-time polymerase chain reaction, using a simple buccal swab, revealed TGFBI heteromutation (R124H). The TGFBI protein plays an important role in cell-collagen signaling interactions, including extracellular matrix proteins which compose the renal basement membrane. This mutation can present not only as corneal dystrophy but also as renal disease. TGFBI-related oculorenal syndrome may have been unrecognized. It is difficult to diagnose this condition without renal electron microscopic studies. To the best of our knowledge, this is the first detailed report of nephropathy associated with a TGFBI mutation. |
| Databáze: | OpenAIRE |
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