Erken Dönemde Böbrek Yetmezliği ile Prezente Olan Denys Drash Sendromu

Yıl 2018, Cilt: 12 Sayı: 3, 221 - 222, 01.12.2018

Tülin Güngör Mehmet Bülbül Gökçe Gür Evrim Kargın Çakıcı Fatma Yazılıtaş Fatih Özaltın Fehime Kara Eroğlu

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

Denys Drash Syndrome Presenting with Renal Failure in the Early Period

Öz

Denys–Drash Syndrome (DDS) is characterized by the triad of congenital or infantile nephropathy (mesangial sclerosis), urogenital malformation and Wilms tumor. Most DDS patients carry WT1 mutations in exon 8 or 9. Here, we report a case of DDS who carried the WT1 missense mutation in exon 9 and presented with early chronic kidney disease and nephrotic syndrome

Anahtar Kelimeler

Denys–Drash syndrome, Urogenital malformation, İnfantile, Nephropathy

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.