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Abstract: TH-PO563

Karyomegalic Interstitial Nephritis: A Genetic Form of Renal Disease

Session Information

  • Trainee Case Reports - I
    October 25, 2018 | Location: Exhibit Hall, San Diego Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Trainee Case Reports

  • 1002 Genetic Diseases of the Kidney: Non-Cystic

Authors

  • Portales castillo, Ignacio Alberto, Rochester General Hospital, Rochester, New York, United States
  • Tong, Qiu J., Rochester General Hospital, Rochester, New York, United States
  • Gerling, David, Rochester Regional Health, Rochester, New York, United States
  • Shastry, Shubha, Rochester General Hospital, Rochester, New York, United States
Introduction

Karyomegalic interstitial nephritis is a rare systemic disease mainly manifested as progressive renal disease

Case Description

A 34 years-old man from Burkina Faso presented to the nephrology clinic for evaluation of CKD. He moved to the USA 1 year before presentation. On the initial visit to our clinic he had no acute complaints. He was seen by a nephrologist 6 years ago at his home town and was told that he had an elevated serum creatinine of 1.62 mg/dL. His medical history included untreated hepatitis B, frequent upper tract respiratory infections and unilateral gynecomastia. Family and social history were non-contributory. His current laboratory exams revealed a normal cell count, creatinine of 1.6 mg/dL, BUN of 13 mg/dL, a protein/creatinine ratio of 0.45 mg/g and a ALT and AST of 53 and 42 U/L respectively with normal bilirubin and mild elevation of alkaline phosphatase, hepatitis b viral load was 15428 IU/mL. Urinalysis showed trace glucose, protein and blood with normal appearing RBC and few granular casts on the sediment. Further work up including ANA, ANCA, SPEP, RF, hemoglobin A1C, hepatitis C, complement levels and immunoglobulin levels, were all unremarkable. A renal biopsy was performed which showed a primary tubulointerstitial disease with enlarged tubular epithelial nuclei, suggestive of karyomegalic interstitial nephritis (KIN).

Discussion

KIN was first reported in 1974 on a 22 years-old woman who died from hepatic carcinoma and a fungal respiratory infection, autopsy showed extreme dysplasia in the renal tubular cells. There have been around 40 more case reports, most include young patients with CKD progressing to ESRD in early adulthood, recurrent respiratory infections and abnormal LFTs. Our patient had this classic features in addition to hepatitis B and gynecomastia, which are of unclear relevance. It was initially hypothesized that KIN was triggered by a virus or toxin causing transient LFT elevations, but recently mutations in FAN1, a gene coding for a nuclease involved in DNA repair, have been identified. There is no specific treatment, our patient is currently being evaluated for breast biopsy and treatment of hepatitis B, ACE inhibitor was started for renal protection. This case adds to the short list of case reports and brings to clinicians an interesting differential diagnosis of chronic tubulointerstitial disease.