engleski

Coarctation of thoracic aorta and hypoplasia of renal arteries

Introduction: Isolated diffuse mesangial sclerosis (IDMS) is a histologically distinct variant of nephrotic syndrome with early onset and progression to end-stage kidney disease. Mutations in PLCE1, WT1 and LAMB2 genes may cause IDMS. Carriers of a WT1 mutation are at risk for the development of Wilm’s tumor and gonadoblastoma.Material and methods: Our patient is a female, born from a normal pregnancy, healthy ; BW 3900 g. Family history is unremarkable. At the age of 4 months proteinuria was detected during a febrile respiratory infection. Methods: laboratory analysis, renal biopsy, ultrasound, abdominal MRI, genetic analysis.Results: When she was 8 months old, she was admitted to our Department and we found proteinuria (1.4 g/dU), hypogammaglobulinemia (IgG 0.83 g/l) and a patent foramen ovale. Ultrasound showed hyperechoic kidneys of normal size Renal biopsy revealed diffuse mesangial sclerosis and multifocal nephroblastic proliferative lesions. Her karyotype is 46, XX, 1qh + (population variant). She has a WT1 mutation (Ex9: c.1165 C > T), heterozygous. In the follow up period she received intravenous immunoglobulin and underwent ultrasound screening for tumors monthly. At the age of 3 years and 3 months she is a well developed girl, with normal blood pressure and without edema. Laboratory findings show non-selective glomerular proteinuria (2.47 g/dU), hypoproteinemia (49 g/l), hypogammaglobulinemia (1.72 g/l) and hypercholesterolemia (9.1 mmol/l). Other findings are within reference ranges. There are no detectable expansive lesions at abdominal MRI and ultrasound examination.Conclusions: Our patient has a favorable course of the disease so far. She has a persistent hypogammaglobulinemia in spite of substitution. Patients with IDMS do not respond to corticosteroid and immunosuppressive therapy. It was reported that one child with PLCE1 mutation responded to cyclosporine therapy. So, patients with IDMS should be tested for mutations to find those who might benefit f

coarctation; thoracic aorta; hypoplasia; renal arteries

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