TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?
- 44 Downloads
Transforming growth factor beta-induced (TGFBI)-associated corneal dystrophies are a group of inherited progressive corneal diseases. One of these TGFBI-associated corneal dystrophies is Avellino corneal dystrophy, an autosomal dominant corneal dystrophy characterized by multiple asymmetric stromal opacities that potentially impair vision. Recently, a case with corneal dystrophy complicated by nephropathy possessing a pathogenic variant of the TGFBI gene was reported for the first time. Here, we report the second case with the same condition and the same mutation in the TGFBI gene. The patient was an 18-year-old male. He and his father had already been diagnosed with corneal dystrophy. Proteinuria was revealed in the patient during urine screening at school. Since his serum creatinine level was raised, a percutaneous renal biopsy was performed. Light microscopy demonstrated oligomeganephronia. Electron microscopy demonstrated an irregular basement membrane. TGFBI was analyzed by direct sequencing. A heterozygous mutation c.371G > A in exon 4, which caused an amino acid substitution from arginine to histidine at codon 124, was identified in the patient and his father. Although only one case of TGFBI-associated corneal dystrophy and nephropathy has been reported, our case’s clinical and pathological findings were almost identical to those in that reported case. Further investigations of this new disease entity should be reported to all nephrologists and ophthalmologists.
KeywordsAvellino corneal dystrophy TGFBI Renal dysfunction Electron microscopy
This study was supported by Grants-in-Aid for Scientific Research (KAKENHI) from the Ministry of Education, Culture, Sports, Science and Technology of Japan (subject ID: 18K15713 to China Nagano).
Compliance with Ethical Standards
All procedures performed in studies involving human participants were in accordance with the ethical standards of the Institutional Review Board of Kobe University Graduate School of Medicine (IRB approval number 301) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.
Conflict of interest
The authors have nothing to disclose.
- 1.Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF. cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol. 1992;11(7):511–22. https://doi.org/10.1089/dna.1992.11.511.CrossRefPubMedGoogle Scholar
- 5.Iwafuchi Y, Morioka T, Oyama Y, Nozu K, Iijima K, Narita I. A case of transforming growth factor-beta-induced gene-related oculorenal syndrome: granular corneal dystrophy type II with a unique nephropathy. Case Rep Nephrol Dial. 2016;6(3):106–13. https://doi.org/10.1159/000449129.CrossRefPubMedPubMedCentralGoogle Scholar
- 6.Dyrlund TF, Poulsen ET, Scavenius C, Nikolajsen CL, Thogersen IB, Vorum H, et al. Human cornea proteome: identification and quantitation of the proteins of the three main layers including epithelium, stroma, and endothelium. J Proteome Res. 2012;11(8):4231–9. https://doi.org/10.1021/pr300358k.CrossRefPubMedPubMedCentralGoogle Scholar
- 7.Taketani Y, Kitamoto K, Sakisaka T, Kimakura M, Toyono T, Yamagami S, et al. Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair. Sci Rep. 2017;7(1):16713. https://doi.org/10.1038/s41598-017-16308-2.CrossRefPubMedPubMedCentralGoogle Scholar