J Korean Soc Pediatr Nephrol.  2009 Apr;13(1):84-91.

Early Onset Renal Failure in Congenital Nephrotic Syndrome associated with Congenital Diaphragmatic Hernia by WT1 Gene Mutation

• Park YJ
• Oh JW
• Choi KM
• Kim PK
• Lee JI
• Song JS

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 andG 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.

Keyword

WT1; Congenital nephrotic syndrome; Congenital diaphragmatic hernia; Diffuse mesangial sclerosis

MeSH Terms

46, XY Disorders of Sex Development
Edema
Emergencies
Female
Furosemide
Genes, Suppressor
Hernia, Diaphragmatic
Herniorrhaphy
Humans
Hypoalbuminemia
Infant, Newborn
Intracranial Hemorrhages
Kidney
Mutation, Missense
Nephrotic Syndrome
Parturition
Peritoneal Dialysis
Proteinuria
Renal Insufficiency
Sclerosis
Wilms Tumor
Furosemide
Hernia, Diaphragmatic
Nephrotic Syndrome
Sclerosis