Öz
Denys Drash Sendromu (DDS); konjenital veya infantil nefropati (mezenşiyal skleroz), Wilms Tümörü, genitoüriner malformasyon ile karakterize bir hastalıktır. Birçok DDS hastası Wilms tümör süpressör geninde (WT1) ekzon 8 ve 9’da mutasyon taşımaktadır. Burada, WT1 geninde ekzon 9’da missense mutasyon taşıyan ve erken dönemde böbrek yetmezliği ve nefrotik sendrom kliniği ile başvuran bir DDS olgusu sunulmaktadır.
Anahtar Kelimeler: Denys Drash sendromu, Genitoüriner malformasyon, İnfantil, Nefropati
Kaynakça
- Chiang PW, Aliaga S, Travers S, Spector E, Tsai AC. Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. Curr Opin Pediatr 2008;20: 103-6.
- Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, et al. Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. Ren Fail 2011;33:910-4.
- da Silva T, Nishi MY, Costa EM, Martin RM, Carvalho FM, Mendonca BB, et al. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome. Pediatr Nephrol 2011; 26:1311-5.
- Hillen LM, Kamsteeg EJ, Schoots J, Tiebosch AT, Speel EJ, Roemen GM, et al. Refining the diagnosis of congenital nephrotic syndrome on long-term stored tissue: c.1097G>A (p.(Arg366His)) WT1 mutation causing Denys Drash Syndrome. Fetal Pediatr Pathol 2016;35:112-9.
- Lipska BS, Ranchin B, Latropoulos P, Gellermann J, Melk A, Ozaltin F, et al. Genotype-phenotype associations in WT1 glomerulopathy. Kidney Int 2014;85:1169-78.
- Heathcott RW, Morison IM, Gubler MC, Corbett R, Reeve AE. A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat 2002;19:462.
- Auber F, Lortat-Jacob S, Sarnacki S, Jaubert F, Salomon R, Thibaud E, et al. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg 2003;38:124-9.
- Stefanidis CJ, Querfeld U. The podocyte as a target: Cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations. Eur J Pediatr 2011;170:1377-83.
- Wang HY, Sun LZ, Yue ZH, Yang J, Jiang XY, Mo Y. Clinical and pathological features of Denys-Drash syndrome: Report of 3 cases. Zhonghua Er Ke Za Zhi 2012;50:855-8.
- Patel PR, Pappas J, Arva NC, Franklin B, Brar PC. Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: A cautionary tale for prophylactic gonadectomy. J Pediatr Endocrinol Metab 2013;26:971-4.
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