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Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder characterized by the presence of ubiquitin and p62-positive intranuclear inclusions in various organs. The genetic basis of NIID has been identified as the expansion of CGG repeat in the 5’-untranslated region of NOTCH2NLC gene. Although NIID is known to affect many organ systems, renal involvement has been rarely reported. Here, we present two cases of NIID diagnosed with focal segmental glomerulosclerosis (FSGS).
We retrospectively analyzed the clinical and pathological findings of two patients with genetically confirmed NIID who underwent renal biopsy due to proteinuria and renal dysfunction.
【Case1】A 64-year-old male was diagnosed with hypertension and hyperuricemia 14 years prior. Nine years later, an annual medical check-up revealed renal dysfunction. Two years later, Cre was 1.1 mg/dL, eGFR was 53.72 mL/min/1.73m2, and urinalysis showed proteinuria (2+). Ten years before admission, cognitive impairment began. Three months before admission, he was hospitalized following a fall, revealing severe hypertension (203/122 mmHg) and renal dysfunction (Cre 1.68 mg/dL, eGFR 30 mL/min/1.73m2, proteinuria 5.6 g/gCr). Brain MRI showed findings suggestive of NIID, and genetic testing confirmed CGG repeat expansion in NOTCH2NLC, leading to the definitive diagnosis of NIID. Renal biopsy revealed segmental sclerosis in 1 of 10 glomeruli. Immunostaining for p62 showed positive nuclear inclusions in podocytes, tubular epithelial cells, and the interstitium, including within the FSGS lesions. Electron microscopy (EM) showed the presence of filamentous inclusions in the nuclei of podocytes and tubular epithelial cells. 【Case2】A 66-year-old female with hypertension was admitted for unconsciousness. Brain MRI showed findings suggestive of NIID. For the past 7 years, she had experienced progressive cognitive decline and memory impairment. Proteinuria (2+) had been present 5 years earlier with the Cre of 0.70 mg/dL; at admission, Cre had increased to 0.93 mg/dL, eGFR was 46.8 mL/min/1.73 m², and proteinuria was 0.90 g/gCr. Genetic testing confirmed CGG repeat expansion in NOTCH2NLC, leading to the definitive diagnosis of NIID. Renal biopsy showed segmental sclerosis in 1 of 15 glomeruli. PAM staining showed segmental duplication of the glomerular basement membrane. IF staining showed granular IgA deposits along the capillary walls. Immunostaining revealed that podocytes, tubular epithelial cells, and the cells in interstitium were p62-positive. EM revealed filamentous inclusions in tubular epithelial cells and spherical deposits in the subendothelial space.
We present two cases of NIID with FSGS, providing the first, to our knowledge, electron microscopic evidence of intranuclear inclusions within podocytes in Case 1. Although a definitive link between FSGS and NIID could not be established, we hypothesize that the abnormal protein, translated from the expanded CGG repeat in NOTCH2NLC, accumulates in the nuclei of podocytes, exerting proteotoxicity that leads to cell injury and subsequent sclerosis.
