Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Karyomegale interstitielle Nephritis

Die karyomegale interstitielle Nephritis ist eine seltene autosomal rezessive Erkrankung, die durch Mutationen des FAN1-gens hervorgerufen wird. Sie ist durch eine progressive Nierenfunktionsverschlechterung unter dem histologischen Bild einer tubulointerstitiellen Nephritis charakterisiert. Typisch sind auffällig großen Zellkerne der proximalen Tubulusepithelzellen.

Gliederung

Interstitielle Nierenerkrankungen
Alström-Syndrom
Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)
Bardet-Biedl-Syndrom
Hyperuricämische Nephropathie
Karyomegale interstitielle Nephritis
FAN1
Komplex medullärer Zystennierenerkrankungen

Referenzen:

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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]