Crescentic glomerulonephritis associated with NK-large granular lymphocytic leukemia: A case report

Zengyuan Luo1, Zaiyu Wang1, Ze Wu2

  • 1Department of Nephrology, Xiangya Hospital, Central South University, Changsha, China.

Medicine
|July 9, 2025
PubMed

Insights

This case report details a rare instance of nephrotic syndrome in a patient with Natural Killer Large Granular Lymphocytic Leukemia (NK-LGLL). The patient presented with acute kidney injury and Epstein-Barr virus infection, highlighting a poor prognosis and the need for renal monitoring in NK-LGLL.

Area of Science:

  • Hematology
  • Nephrology
  • Oncology

Background:

  • Chronic lymphoproliferative disorder of natural killer cells (now NK-large granular lymphocytic leukemia, NK-LGLL) is a rare, indolent hematological disease.
  • Renal involvement in NK-LGLL is exceptionally uncommon.
  • This report focuses on a unique case of NK-LGLL presenting with nephrotic syndrome.

Purpose of the Study:

  • To report a rare case of nephrotic syndrome in a patient with NK-LGLL.
  • To describe the clinical presentation, diagnostic findings, and genetic mutations associated with this rare condition.
  • To emphasize the importance of renal function monitoring in NK-LGLL patients.

Main Methods:

  • A 54-year-old woman presented with nephrotic syndrome, acute kidney injury, and Epstein-Barr virus infection.
  • Diagnosis involved bone marrow examination showing clonal NK cell proliferation and renal biopsy revealing pauci-immune crescentic glomerulonephritis with NK-LGLL infiltration.
  • Targeted exome sequencing identified pathogenic N642H mutation in STAT5B, along with RELN and INTS1 mutations.

Main Results:

  • The patient exhibited nephrotic syndrome and acute kidney injury secondary to pauci-immune crescentic glomerulonephritis with NK-LGLL infiltration.
  • Genetic analysis revealed a pathogenic N642H mutation in STAT5B, suggesting a potential driver mutation.
  • Despite the diagnosis, the patient unfortunately died from cerebral hemorrhage before treatment could be initiated.

Conclusions:

  • This case highlights a unique presentation of crescentic glomerulonephritis associated with NK-LGLL, characterized by STAT5B mutation, EBV infection, and a poor prognosis.
  • The findings suggest that NK-LGLL can present with severe renal manifestations, deviating from its typical indolent course.
  • Close monitoring of renal function is crucial for patients diagnosed with NK-LGLL, especially those with atypical presentations or genetic mutations.
Abstract