IgA Nephropathy Concomitant With Karyomegalic Interstitial Nephritis

Am J Med Sci. 2020 Sep;360(3):287-292. doi: 10.1016/j.amjms.2020.04.010. Epub 2020 Apr 17.

Abstract

Immunoglobulin A (IgA) nephropathy is one of the most common glomerulonephritis characterized by the deposition of IgA in glomerular mesangium. Karyomegalic interstitial nephritis (KIN) is a rare interstitial nephritis with potential hereditary factors. IgA nephropathy concomitant with KIN has not yet been reported. Herein, we describe the clinical course, ultrasonic images and gastrointestinal endoscopy findings of a 28-year-old-male patient with IgA nephropathy with KIN. The pathologic examination of the renal biopsy specimen demonstrated mild mesangial proliferative IgA nephropathy with KIN. Molecular genetic testing detected an abnormality in FAN1 gene. The heterozygous mutation was present on chromosome 15q13.3. However, IgA nephropathy with KIN is a rare disorder, and its pathogenesis is yet to be clarified.

Keywords: Gene mutation; Immunoglobulin A nephropathy; Karyomegalic interstitial nephritis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 15 / genetics
  • Endodeoxyribonucleases / genetics
  • Exodeoxyribonucleases / genetics
  • Frameshift Mutation
  • Glomerular Mesangium
  • Glomerulonephritis, IGA / drug therapy
  • Glomerulonephritis, IGA / pathology*
  • Glomerulonephritis, IGA / physiopathology
  • Heterozygote
  • Humans
  • Kidney Function Tests
  • Male
  • Multifunctional Enzymes / genetics
  • Mutation, Missense
  • Nephritis, Interstitial / genetics*
  • Nephritis, Interstitial / pathology*
  • Nephritis, Interstitial / physiopathology

Substances

  • Multifunctional Enzymes
  • Endodeoxyribonucleases
  • Exodeoxyribonucleases
  • FAN1 protein, human