American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2021, 9(12), 693-697
DOI: 10.12691/ajmcr-9-12-8
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Karyomegalic Interstitial Nephritis: Case Series and Review of Literature

Humaira Nasir1, Nida Saleem2, , Fatima Anwar1, Rabia Saleem1 and Syed Nayer Mahmud2

1Pathology Department, Shifa International Hospital, Islamabad, 00000, Pakistan

2Nephrology Department, Shifa International Hospital, Islamabad, 00000, Pakistan

Pub. Date: September 09, 2021

Cite this paper:
Humaira Nasir, Nida Saleem, Fatima Anwar, Rabia Saleem and Syed Nayer Mahmud. Karyomegalic Interstitial Nephritis: Case Series and Review of Literature. American Journal of Medical Case Reports. 2021; 9(12):693-697. doi: 10.12691/ajmcr-9-12-8


Karyomegalic interstitial nephritis (KIN) is a rare cause of hereditary interstitial nephritis, described 45 years ago. Only about 50 cases have been described in English literature so far and none from Pakistan. This disease has an escalated course with a worsened outcome. There are a few potential mimickers of this disease both clinically and histologically, which might lead to a missed diagnosis and hence poor management. We have described here a series of 05 cases of KIN that were diagnosed at our institute for better understanding of this disease entity.

interstitial nephritis karyomegalic interstitial nephritis chronic kidney disease histopathology kidney transplantation

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[1]  Burry AJTJop. Extreme dysplasla in renal epithelium of a young woman dying from hepatocarcinoma. 1974; 113(3): 147-50.
[2]  Mihatsch M, Gudat F, Zollinger H, Heierli C, Thölen H, Reutter FJCn. Systemic karyomegaly associated with chronic interstitial nephritis. A new disease entity? 1979; 12(2): 54-62.
[3]  Sclare GJBzP. A case of unexplained karyomegaly. 1976; 157(3): 301-6.
[4]  Moch H, Spöndlin M, Schmassmann A, Mihatsch MJDP. Systemic karyomegaly with chronic interstitial nephritis. Discussion of the disease picture based on an autopsy case. 1994; 15(1): 44-8.
[5]  Spoendlin M, Moch H, Brunner F, Brunner W, Burger H-R, Kiss D, et al. Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect. 1995; 25(2): 242-52.
[6]  Godin M, Francois A, Le Roy F, Morin J-P, Creppy E, Hemet J, et al. Karyomegalic interstitial nephritis. 1996; 27(1): 166.
[7]  Vadiaka M, Sotsiou F, Koufos C, editors. A case of systemic karyomegaly associated with interstitial nephritis. Annales de medecine interne; 1998.
[8]  Ravindran A, Cortese C, Larsen CP, Wadei HM, Gandhi MJ, Cosio FG, et al. Karyomegalic interstitial nephritis in a renal allograft. 2019; 19(1): 285-90.
[9]  Koshy PJ, Sudhakar DV, Anupama SH, Mathew M, Parthasarthy R, Thangaraj K, et al. Novel homozygous FAN1 mutation in a familial case of karyomegalic interstitial nephritis. 2020; 30(4): 283.
[10]  Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, et al. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. 2012; 44(8): 910-5.
[11]  Lim SW, Kim B-M, Kim KW, Shin YJ, Chae H, Ko EJ, et al. Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c. 1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene. 2020; 46: 101876.
[12]  Uz E, Bayram Y, Haltas H, Bavbek N, Kanbay M, Guz G, et al. Karyomegalic tubulointerstitial nephritis: a rare cause of chronic kidney disease. 2011; 3: 201-3.
[13]  Bonsib SM. Tubulointerstitial Diseases. Atlas of Medical Renal Pathology: Springer; 2013. p. 93-146.
[14]  McCulloch T, Prayle A, Lunn A, Watson ARJPN. Karyomegalic-like nephropathy, Ewing’s sarcoma and ifosfamide therapy. 2011; 26(7): 1163-6.
[15]  Palmer D, Lallu S, Matheson P, Bethwaite P, Tompson KJDc. Karyomegalic interstitial nephritis: a pitfall in urine cytology. 2007; 35(3): 179-82.
[16]  Murray SL, Connaughton DM, Fennelly NK, Kay EW, Dorman A, Doyle B, et al. Karyomegalic interstitial nephritis: cancer risk following transplantation. 2020; 144(1): 49-54.