Case of hereditary kidney disease presenting thin basement membrane with a single heterozygous variant of Intersectin 2

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  • Kondo Madoka
    Division of Nephrology, Department of Internal Medicine, JA Toride Medical Center, Japan
  • Mori Takayasu
    Department of Nephrology, Tokyo Medical and Dental University, Japan
  • Oshita Tadashi
    Division of Nephrology, Department of Internal Medicine, JA Toride Medical Center, Japan
  • Ohashi Atsuki
    Division of Nephrology, Department of Internal Medicine, JA Toride Medical Center, Japan
  • Sohara Eisei
    Department of Nephrology, Tokyo Medical and Dental University, Japan
  • Uchida Shinichi
    Department of Nephrology, Tokyo Medical and Dental University, Japan
  • Maeda Yoshitaka
    Division of Nephrology, Department of Internal Medicine, JA Toride Medical Center, Japan

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<p>Objective: Intersectin 2 (ITSN2) is reported to cause hereditary nephrotic syndrome, but the number of cases remains quite small. We observed a case of progressive renal dysfunction and family history for end-stage kidney disease with a known single heterozygous ITSN2 variant. This study aimed to reveal the novel pathological significance of altered ITSN2 expression via a detailed examination.</p><p>Patient and Methods: A 52-year-old Japanese woman with mild proteinuria and hematuria visited our center. The patient did not opt for a detailed examination but was instead followed up with conservative treatment consisting of low-dose angiotensin receptor blockers. Serum Cr worsened from 1.15 to 1.79 mg/dL after 7 years when precise diagnosis was performed by renal biopsy and genetic testing.</p><p>Results: Kidney biopsy showed a thin basement membrane (TBM) and global glomerulosclerosis in 37.5% (6 out of 16) glomeruli examined. Comprehensive gene panel testing of 121 genes revealed a known ITSN2 variant, assumed to be involved in pathogenesis. No variants in the Alport syndrome genes, which are typically responsible for TBM, were detected.</p><p>Conclusion: A possible novel phenotype of the heterozygous ITSN2 variant was identified as a cause of hereditary renal failure. Further investigation of similar cases is required for a better understanding.</p>

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