Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (5): 73-78.doi: 10.6040/j.issn.1671-7554.0.2022.1239
• 临床医学 • Previous Articles
YIN Qiuxia, ZHAO Fei, DING Guixia, HAN Yuan, ZHAO Sanlong, CHENG Xueqin
CLC Number:
[1] Moerman P, Damme BV, Proesmans W, et al. Oligomeganephronic renal hypoplasia in two siblings [J]. J Pediatr, 1984, 105(1): 75-77. [2] Weir MR, Salinas JA, Rawlings PC. Intrauterine twin demise and oligomeganephronia [J]. Nephron, 1985, 40(4): 482-484. [3] Salomon R, Tellier AL, Attie-Bitach T, et al. PAX2 mutations in oligomeganephronia [J]. Kidney Int, 2001, 59(2): 457-462. [4] Park SH, Chi JG. Oligomeganephronia associated with 4p deletion type chromosomal anomaly [J]. Pediatr Pathol, 1993, 13(6): 731-740. [5] Gatto A, Ferrara P, Leoni C, et al. Oligonephronia and Wolf-Hirschhorn syndrome: a further observation [J]. Am J Med Genet A, 2018, 176(2): 409-414. [6] Abdelhak S, Kalatzis V, Heilig R, et al. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal(BOR)syndrome and identifies a novel gene family [J]. Nat Genet, 1997, 15(2): 157-164. [7] Holzmüller M. Branchio-oto-renal syndrome(BOR syndrome). A dysplasia syndrome with branchial abnormalities, deafness and kidney disease [J]. HNO, 2000, 48(11): 839-842. [8] Kiefer SM, Ohlemiller KK, Yang J, et al. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects [J]. Hum Mol Genet, 2003, 12(17): 2221-2227. [9] 张琰琴, 丁洁, 赵丹, 等. 寡而大肾发育不良患儿HNF-1β基因及PAX2基因的突变分析[J]. 临床儿科杂志, 2011, 29(5): 441-445. ZHANG Yanqin, DING Jie, ZHAO Dan, et al. Detection of HNF-1β gene and PAX2 gene mutation in a child with oligomeganephronia [J]. Journal of Clinical Pediatrics, 2011, 29(5): 441-445. [10] Schimmenti LA. Renal coloboma syndrome [J]. Eur J Hum Genet, 2011, 19(12): 1207-1212. [11] Bitó L, Kalmár T, Maróti Z, et al. PAX2 mutation-related oligomeganephronia in a young adult patient [J]. Case Rep Nephrol Dial, 2020, 10(3): 163-173. [12] Royer P, Habib R, Mathieu H, et al. Congenital bilateral renal hyperplasia with reduction of the number and hypertrophy of the nephrons in children [J]. Ann Pediatr(Paris), 1962, 9: 133-146. [13] Habib R, Courtecuisse V, Mathieu H, et al. A peculiar anatomo-clinical type of chronic renal insufficiency in the child: bilateral congenital oligonephronic hypoplasia [J]. J Urol Nephrol(Paris), 1962, 68(3): 139-143. [14] Drukker A. Oligonephropathy: from a rare childhood disorder to a possible health problem in the adult [J]. Isr Med Assoc J, 2002, 4(3): 191-195. [15] Bonsib SM. Renal hypoplasia, from grossly insufficient to not quite enough: consideration for expanded concepts based upon the authors perspective with historical review [J]. Adv Anat Pathol, 2020, 27(5): 311-330. [16] Ferrè S, Igarashi P. New insights into the role of HNF-1β in kidney(patho)physiology [J]. Pediatr Nephrol, 2019, 34(8): 1325-1335. [17] Sagen JV, Bostad L, Njlstad PR, et al. Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta(HNF-1beta)mutation carriers [J]. Kidney Int, 2003, 64(3): 793-800. [18] Nagano C, Nozu K, Yamamura T, et al. TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?[J]. CEN Case Rep, 2019, 8(1): 14-17. [19] Favor J, Sandulache R, Neuhauser-Klaus A. The mouse Pax2(1Neu)mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney[J]. Proc Natl Acad Sci U S A, 1996, 93(24): 13870-13875. [20] Yamamura Y, Furuichi K, Murakawa Y, et al. Identification of candidate PAX2-regulated genes implicated in human kidney development[J]. Sci Rep, 2021, 11(1): 9123. [21] 侯晓明, 陈星, 王玉林. Pax2在肾脏发育和肾疾病中的调控作用[J]. 遗传, 2011, 33(9): 931-938. HOU Xiaoming, CHEN Xing, WANG Yulin. The role of Pax2 in regulation of kidney development and kidney disease [J]. Hereditas(Beijing), 2011, 33(9): 931-938. [22] Bower M, Salomon R, Allanson J, et al. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database [J]. Hum Mutat, 2012, 33(3): 457-466. [23] Fletcher J, Hu M, Berman Y, et al. Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2 [J]. J Am Soc Nephrol, 2005, 16(9): 2754-2761. [24] Okumura T, Furuichi K, Higashide T, et al. Association of PAX2 and other gene mutations with the clinical manifestations of renal coloboma syndrome [J]. PLoS One, 2015, 10(11): e0142843. doi: 10.1371/journal.pone.0142843. [25] Choi DJ, Wallace EC, Fraire AE, et al. Best cases from the AFIP: intrarenal teratoma [J]. Radiographics, 2005, 25(2): 481-485. [26] Zhang L, Zhai SB, Zhao LY, et al. New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature [J]. BMC Nephrol, 2018, 19(1): 245-250. [27] DAgati VD, Kaskel FJ, Falk RJ. Focal segmental glomerulosclerosis [J]. N Engl J Med, 2011, 365(25): 2398-2411. [28] McGraw M, Poucell S, Sweet J, et al. The significance of focal segmental glomerulosclerosis in oligomeganephronia [J]. Int J Pediatr Nephrol, 1984, 5(2): 67-72. [29] Brenner BM, Lawler EV, Mackenzie HS. The hyperfiltration theory: a paradigm shift in nephrology [J]. Kidney Int, 1996, 49(6): 1774-1777. [30] Ohtaka A, Ootaka T, Sato H, et al. Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm? [J]. Nephrol Dial Transplant, 2002, 17(suppl 9): 11-15. [31] Gebeshuber CA, Kornauth C, Dong L, et al. Focal segmental glomerulosclerosis is induced by microRNA-193a and its downregulation of WT1 [J]. Nat Med, 2013, 19(4): 481-487. [32] Barua M, Stellacci E, Stella L, et al. Mutations in PAX2 associate with adult-onset FSGS [J]. J Am Soc Nephrol, 2014, 25(9): 1942-1953. [33] Miyazawa T, Nakano M, Takemura Y, et al. A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation [J]. Clin Nephrol, 2009, 72(6): 497-500. [34] Schimmenti LA, Cunliffe HE, Mcnoe LA, et al. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations [J]. Am J Hum Genet, 1997, 60(4): 869-878. [35] Latropoulos P, Daina E, Mele C, et al. Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation [J]. Pediatr Nephrol, 2012, 27(10): 1989-1993. |
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