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Light chain proximal tubulopathy (LCPT) is characterized by cytoplasmic inclusions of monoclonal LC within proximal tubular cells.
We report two cases of LCPT diagnosed following renal biopsy at our institution.
【Case 1】44-year-old female. Urinary glucose was noted around X-4 years ago. A 75g oral glucose tolerance test (OGTT) was performed, leading to a diagnosis of borderline diabetes mellitus. At that time, urinary protein was also detected (±). She presented with Fanconi syndrome, characterized by impaired renal function and tubular dysfunction, along with concomitant hypouricemia, hypophosphatemia, and leukopenia. IgA-κ type M protein was positive, with a κ/λ ratio of 38.6. Bone marrow examination showed increased plasma cells (7.8%) and demonstrated phagocytosis of κ chains by histiocytes. Renal biopsy specimens revealed macroscopic findings of enlarged tubular epithelium and crystalline structures. Fluorescent antibody staining using FFPE sections identified granular material predominantly associated with κ chains. Electron microscopy also revealed crystalline structures within proximal tubular lysosomes, leading to a diagnosis of LCPT.
【Case 2】An 81-year-old male presented with 1+ proteinuria at his initial visit in Year Y-4. Hematuria was noted around the time he began treatment for chronic kidney disease in Year Y-1. His renal impairment gradually progressed. At referral to our department in Year Y, he presented with tubular dysfunction, hypocomplementemia, hypouricemia, and hypophosphatemia, consistent with Fanconi syndrome. He tested positive for IgM-κ-type M protein, with a κ/λ ratio of 184.1. Bone marrow examination showed 2.4% plasma cells. Renal biopsy tissue showed no crystalline structures or light chain restriction by light microscopy or immunofluorescence. However, electron microscopy revealed crystalline structures within proximal tubular epithelial cells, leading to a diagnosis of LCPT.
When Fanconi syndrome with M protein is observed, LCPT should be suspected. It is important to actively perform comprehensive renal biopsy, including immunofluorescence using FFPE and electron microscopy. Furthermore, Case 1 demonstrated crystalline structures in the glomeruli. Additionally, a liver biopsy performed to investigate liver dysfunction revealed phagocytosis of κ chains within Kupffer cells, suggesting a concomitant Crystal-storing histiocytosis (CSH). Both diseases appear to share the common feature of saturated foreign substanse clearance capacity. However, no previous reports of combined LCPT and CSH exist, making this a valuable case.
