FAN1 mutation and karyomegalic nephropathy in chronic kidney disease.
Vijay Jeyachandran, Amit Pasari, Kapil Sejpal et al.
✦ AI-curated · Sources linked
Case in brief
A middle-aged female with chronic kidney disease presented for renal biopsy, which showed tubular vacuolization, patchy acute injury, and karyomegaly with bizarre nuclei. Genetic testing identified a pathogenic homozygous deletion in the FAN1 gene. The patient was managed conservatively, and her renal function remained stable at a 6-month follow-up.
What made this case unusual
The presence of karyomegaly and intranuclear cytoplasmic inclusions in the renal biopsy is a distinctive feature of Karyomegalic Interstitial Nephritis, linked to FAN1 mutations.
Diagnostic / clinical pearl
Clinicians should consider FAN1 mutations in cases of karyomegalic interstitial nephritis, as early diagnosis can influence management strategies.
Why it matters
Understanding the genetic basis of rare nephropathies like Karyomegalic Interstitial Nephritis can improve diagnostic accuracy and patient care.