Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Karyomegalic interstitial nephritis

Karyomegalic interstitial nephritis is a rare autosomal recessive disorder caused by mutations of the FAN1 gene. It is characterized by progressive renal failure with the histomorphological picture of a tubulointerstitial nephritis. Typical are enlarged cell nuclei of the proximal tubule epithelial cells.

Systematic

Interstitial kidney disease
Alström syndrome
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
Bardet-Biedl syndrome
Hyperuricemic nephropathy
Karyomegalic interstitial nephritis
FAN1
Medullary cystic disease complex

References:

1.

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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2.

Spoendlin M et al. (1995) Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.

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3.

Godin M et al. (1996) Karyomegalic interstitial nephritis.

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4.

Baba F et al. (2006) Karyomegalic tubulointerstitial nephritis--a case report.

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5.

Cannavo E et al. (2007) Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.

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6.

Palmer D et al. (2007) Karyomegalic interstitial nephritis: a pitfall in urine cytology.

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7.

MacKay C et al. (2010) Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.

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8.

Kratz K et al. (2010) Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents.

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9.

Smogorzewska A et al. (2010) A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.

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10.

Verine J et al. (2010) [Karyomegalic interstitial nephritis: A new French case].

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11.

Liu T et al. (2010) FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.

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12.

Zhou W et al. (2012) FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

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13.

Wang R et al. (2014) DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.

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14.

OMIM.ORG article

Omim 613534 external link
15.

Orphanet article

Orphanet ID 401996 external link
Update: Aug. 14, 2020
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