Karyomegalic interstitial nephritis is a rare progressive renal disease. We report a 36-year-old male patient who developed kidney failure due to this condition, underwent kidney transplantation from his sister, and developed the same condition in the graft. Genetic testing of the donor revealed autosomal recessive compound heterozygous mutation of Fanconi anemia-associated nuclease1 () gene. Karyomegalic interstitial nephritis is most probably donor derived in our patient. It should not be mislabeled as viral nephropathy.
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http://dx.doi.org/10.4103/ijn.ijn_364_22 | DOI Listing |
BMC Nephrol
November 2024
Department of Pathology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Background: Karyomegalic interstitial nephritis (KIN) is a rare renal diagnosis associated with both genetic and medication etiologies. The primary gene associated with KIN is the FAN1 gene which encodes a protein responsible for DNA interstrand repair. Common medication triggers of KIN are chemotherapeutic agents, especially those which disrupt DNA structure such as carboplatin.
View Article and Find Full Text PDFNefrologia (Engl Ed)
November 2024
Servicio de Nefrología, Complejo Asistencial Universitario de León, León, Spain.
Nephrology (Carlton)
December 2024
Department of Internal Medicine, Division of Nephrology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Karyomegalic interstitial nephritis (KIN) is a rare entity associated with biallelic FAN1 (FANCD2/FANCI-Associated Nuclease 1) gene variants. In FAN1-related KIN, abnormal liver function tests and respiratory involvement are common, in addition to chronic kidney disease. Karyomegalic changes have also been reported in many other organs in patients with FAN1-related KIN in various studies.
View Article and Find Full Text PDFCEN Case Rep
August 2024
Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University Yokohama City Seibu Hospital, Yokohama, Japan.
CEN Case Rep
July 2024
Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University Yokohama City Seibu Hospital, Yokohama, Japan.
Patients with ifosfamide-induced renal damage present with Fanconi syndrome. Karyomegalic nephropathy/interstitial nephritis (KNIN) is a rare form of chronic tubulo-interstitial nephritis that was initially considered a type of familial nephropathy. However, several reports of drug-induced KNIN, i.
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