• Clinical and Experimental Pediatrics
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• v.60 no.3
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• pp.55-63
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• 2017

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.

• Childhood Kidney Diseases
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• v.13 no.1
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• pp.84-91
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• 2009

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.

• Childhood Kidney Diseases
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• v.16 no.1
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• pp.21-31
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• 2012

Focal segmental glomerulosclerosis (FSGS) is the name of the primary glomerular disease as well as the terminology to describe the secondary phenomena of any other glomerular diseases. It is characterized by sclerosis, hyalinosis, foam cell infiltration, vacuolar change of podocytes, and halo formation in the glomerulus. Throughout the interstitium, lymphocytes infiltration, tubular atrophy and vascular changes are accompanied. Occasionally, IgM and/or C3 depositions are noted in the sclerotic areas. Electron microscopically, diffuse effacement of foot processes are seen in non-sclerotic area like minimal change disease. Podocyte injury patterns including vacuolar changes are frequently examined. Recently, Columbia group has suggested morphologic classification of FSGS and they demonstrated very good prognosis of tip lesion and poor prognosis of both collapsing and cellular types. However, the pathogenetic classification has been suggested by others; hyperfilteration, podocyte injury, genetic lesions etc. Further studies are necessary to understand and treat this disease.

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.161-169
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• 2009

Purpose : This study was performed to report the diagnosis and treatment of nephrotic syndrome manifesting in the first year of life. Methods : We retrospectively reviewed the clinical data with chart review in 7 patients who were diagnosed as nephrotic syndrome manifesting in the first year of life from 1996 to 2007. Results : Three patients had congenital nephrotic syndrome, the other 4 patients had infantile nephrotic syndrome. Their ages ranged from birth to 11 months and male to female ratio was 1 to 6. Renal biopsies were done in 6 patients. One patient had Finnish type congenital nephrotic syndrome, 2 patients had diffuse mesangial sclerosis, 2 patients had focal segmental glomerulosclerosis and 1 patient had minimal change disease. Genetic analyses of NPHS2, PLCE1, and WT1 were done in 4 patients and 2 of them had WT1 mutation. Among 3 patients with congenital nephrotic syndrome, 1 patient was diagnosed as congenital nephrotic syndrome of Finnish type and the other 2 patients were diagnosed as Denys-Drash syndrome. All of the patients with congenital nephrotic syndrome died due to sepsis. Among 4 patients with infantile nephrotic syndrome, 2 patients died and 1 had remission, another patient progressed to end stage renal disease. Conclusion : Most of nephrotic syndrome manifesting in the first year was hereditary renal disease. Patients with nephrotic syndrome manifesting in the 3 month of life had poorer prognosis and needed more aggressive management including early dialysis and renal transplantation might be considered compared with infantile nephrotic syndrome. Further genotype-phenotype correlation studies are needed.