Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Early Onset Renal Failure in Congenital Nephrotic Syndrome associated with Congenital Diaphragmatic Hernia by WT1 Gene Mutation

WT1 유전자 돌연변이에 의해 선천성 가로막 탈장이 동반되고 조기 신부전이 초래된 선천성 신증후군 1례

  • Park, Yong-Jun (Department of Pediatrics, Kwandong University College of Medicine) ;
  • Oh, Jin-Won (Department of Pediatrics, Kwandong University College of Medicine) ;
  • Choi, Kyong-Min (Department of Pediatrics, Kwandong University College of Medicine) ;
  • Kim, Pyung-Kil (Department of Pediatrics, Kwandong University College of Medicine) ;
  • Lee, Jong-In (Department of Surgery, Kwandong University College of Medicine) ;
  • Song, Ji-Sun (Department of Pathology, Kwandong University College of Medicine)
  • 박용준 (관동대학교 의과대학 소아과학교실) ;
  • 오진원 (관동대학교 의과대학 소아과학교실) ;
  • 최경민 (관동대학교 의과대학 소아과학교실) ;
  • 김병길 (관동대학교 의과대학 소아과학교실) ;
  • 이종인 (관동대학교 의과대학 외과학교실) ;
  • 송지선 (관동대학교 의과대학 병리학교실)
  • Published : 2009.04.30
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Abstract

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.

저자들은 선천성 가로막 탈장을 동반한 선천성 신증후군 신생아에서 WT1 유전자 돌연변이와 범발성맥관막 경화증으로 진단하였기에 문헌 고찰과 함께 보고하는 바이다. 본 여아는 출생 직후 선천성 가로막 탈장이 발견되어 응급 교정수술을 받았고 전신부종, 핍뇨, 단백뇨, 저알부민혈증, 고뇨소질소혈증, 고크레아티닌혈증이 지속되어 선천성 신증후군에 의한 조기 신부전으로 진단되었다. 생후 22일째부터 복막투석 시작하였으나 뇌출혈과 다기관부전으로 생후 34일째 사망하였다. 사후 신생검에서 범발성 맥관막 경화증으로 확인되었다. 염색체 검사에서 정상소견(46,XX) 보였고 사후 유전자 검사에서 Arg366Hisin WT1 과오 돌연변이를 보였다. 본 예는 선천성 신증후군에 선천성 가로막 탈장이 동반된 드문 예로 WT1 유전자의 Arg366His 과오 돌연변이가 DDS와 CDH의 발생에 병인으로 관여할 것이라는 가설을 지지하는 4번째 증례라는 점에서 중요한 의미가 있다.

Keywords

References

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