J Korean Soc Pediatr Nephrol > Volume 13(1); 2009 > Article
Journal of the Korean Society of Pediatric Nephrology 2009;13(1): 84-91. doi: https://doi.org/10.3339/jkspn.2009.13.1.84
WT1 유전자 돌연변이에 의해 선천성 가로막 탈장이 동반되고 조기 신부전이 초래된 선천성 신증후군 1례
박용준, 오진원, 최경민, 김병길, 이종인, 송지선
1관동대학교 의과대학 소아과학교실
2관동대학교 의과대학 소아과학교실
3관동대학교 의과대학 소아과학교실
4관동대학교 의과대학 소아과학교실
5관동대학교 의과대학 외과학교실
6관동대학교 의과대학 병리학교실
Early Onset Renal Failure in Congenital Nephrotic Syndrome associated with Congenital Diaphragmatic Hernia by WT1 Gene Mutation
Yong-Jun Park, Jin-Won Oh, Kyong-Min Choi, Pyung-Kil Kim, Jong-In Lee, Ji-Sun Song
1Department of Pediatrics, Kwandong University College of Medicine
2Department of Pediatrics, Kwandong University College of Medicine
3Department of Pediatrics, Kwandong University College of Medicine
4Department of Pediatrics, Kwandong University College of Medicine
5Department of Surgery, Kwandong University College of Medicine
6Department of Pathology, Kwandong University College of Medicine
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We experienced a female neonate with congenital nephrotic syndrome (CNS) associated with congenital diaphragmatic hernia (CDH). Because of the rare combination of two conditions, we report this case with literature review. CDH was found immediately after birth and emergency operation was done for hernia repair. But on the next day, generalized edema and oliguria(0.59 mL/kg/hour) was found and her blood chemistry showed hypoalbuminemia (1.6 g/dL), increased BUN (27.7 mg/dL) and serum creatinine( 1.8 mg/dL) along with heavy proteinuria (4+). We started albumin infusion with a bolus of intravenous furosemide. We suspected the neonate had congenital nephrotic syndrome and her 24hr urine protein was 1,816 mg/day. In spite of immunosuppressive therapy, the nephrotic syndrome and renal failure progressed. We started peritoneal dialysis on the day of life 22 but it was not satisfactory. She was complicated by intracranial hemorrhage and multi-organ failure and expired at 34 days of age. Kidney necropsy was performed which showed diffuse mesangial sclerosis (DMS). Her chromosome study revealed 46, XX and her gene study revealed a heterozygous missense mutation, Arg366His, in Wilms tumor suppressor gene (WT1). This case deserves attention on account of the 4th case of CNS with CDH revealing the Arg366His mutation in the WT1 gene and G the 1st case of early onset renal failure without male pseudohermaphroditism and Wilms tumor with CNS, CDH and the Arg366His mutation in the WT1 gene. So, this report gives support to the hypothesis that Arg366His mutation in the WT1 gene can result in CNS and CDH.
Key words: WT1 | Congenital nephrotic syndrome | Congenital diaphragmatic hernia | Diffuse mesangial sclerosis

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