Explorer FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair
نویسندگان
چکیده
Citation for published version: Zhou, W, Otto, EA, Cluckey, A, Airik, R, Hurd, TW, Chaki, M, Diaz, K, Lach, FP, Bennett, GR, Gee, HY, Ghosh, AK, Natarajan, S, Thongthip, S, Veturi, U, Allen, SJ, Janssen, S, Ramaswami, G, Dixon, J, Burkhalter, F, Spoendlin, M, Moch, H, Mihatsch, MJ, Verine, J, Reade, R, Soliman, H, Godin, M, Kiss, D, Monga, G, Mazzucco, G, Amann, K, Artunc, F, Newland, RC, Wiech, T, Zschiedrich, S, Huber, TB, Friedl, A, Slaats, GG, Joles, JA, Goldschmeding, R, Washburn, J, Giles, RH, Levy, S, Smogorzewska, A & Hildebrandt, F 2012, 'FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair' Nature Genetics, vol 44, no. 8, pp. 910-915. DOI: 10.1038/ng.2347
منابع مشابه
Karyomegalic Interstitial Nephritis
Karyomegalic interstitial nephritis is a rare cause of hereditary chronic interstitial nephritis, described for the first time over 40 years ago.A 36-year-old woman, of Turkish origin, presented with chronic kidney disease and high blood pressure. She had a history of recurrent upper respiratory tract infections but no familial history of nephropathy. Physical examination was unremarkable. Labo...
متن کاملKaryomegalic interstitial nephritis and DNA damage-induced polyploidy in Fan1 nuclease-defective knock-in mice.
The Fan1 endonuclease is required for repair of DNA interstrand cross-links (ICLs). Mutations in human Fan1 cause karyomegalic interstitial nephritis (KIN), but it is unclear whether defective ICL repair is responsible or whether Fan1 nuclease activity is relevant. We show that Fan1 nuclease-defective (Fan1(nd/nd)) mice develop a mild form of KIN. The karyomegalic nuclei from Fan1(nd/nd) kidney...
متن کاملKaryomegalic nephropathy: an uncommon cause of progressive renal failure.
BACKGROUND Karyomegalic nephropathy, first identified in 1974, represents an increasingly recognized, but perhaps underdiagnosed condition associated with interstitial nephritis. It undoubtedly leads to end-stage renal disease requiring renal support. METHODS AND RESULTS We present a series of six cases of karyomegalic nephropathy. The age at diagnosis was 9-51 years, median 33 years. Impaire...
متن کاملSteroid Treatment in Acute Interstitial Nephritis Quinto 2015-Dec.-13 1 Title: A systematic review examining the effectiveness of steroids versus supportive therapy for the treatment of drug-induced acute interstitial nephritis
Acute interstitial nephritis (AIN) is an inflammatory condition of the kidneys. There are many different causes of AIN however, one major cause is an immune mediated hypersensitivity reaction to medications. Individuals who are at most risk of developing AIN are those who are hospitalized and being treated with multiple medications. The signs and symptoms associated with AIN are very nonspecifi...
متن کاملMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with mas...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2017