Abstract

Nephrotic syndrome (NS) in children includes a diverse group of diseases that range from genetic diseases without any immunological defects to causes that are primarily due to immunological effects. Recent advances in molecular and genomic studies have resulted in a plethora of genetic defects that have been localized to the podocyte, the basic structure that is instrumental in normal filtration process. Although the disease can manifest from birth and into adulthood, the primary focus of this review would be to describe the novel genes and pathology of primary podocyte defects that cause NS in children. This review will restrict itself to the pathology of congenital NS, minimal change disease (MCD), and its variants and focal segmental glomerulosclerosis (FSGS). The two major types of congenital NS are Finnish type characterized by dilated sausage shaped tubules morphologically and diffuse mesangial sclerosis characterized by glomerulosclerosis. MCD has usually normal appearing biopsy features on light microscopy and needs electron microscopy for diagnosis, whereas FSGS in contrast has classic segmental sclerosing lesions identified in different portions of the glomeruli and tubular atrophy. This review summarizes the pathological characteristics of these conditions and also delves into the various genetic defects that have been described as the cause of these primary podocytopathies. Other secondary causes of NS in children, such as membranoproliferative and membranous glomerulonephritis, will not be covered in this review.

Highlights

  • The kidney is the main organ of filtration in the body, and the daily protein loss is only a small portion of the total protein ingested

  • Recent advances in molecular and genomic studies have resulted in a plethora of genetic defects that have been localized to the podocyte, the basic structure that is instrumental in normal filtration process

  • This review will restrict itself to the pathology of congenital Nephrotic syndrome (NS), minimal change disease (MCD), and its variants and focal segmental glomerulosclerosis (FSGS)

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Summary

Sarangarajan Ranganathan*

Nephrotic syndrome (NS) in children includes a diverse group of diseases that range from genetic diseases without any immunological defects to causes that are primarily due to immunological effects. Recent advances in molecular and genomic studies have resulted in a plethora of genetic defects that have been localized to the podocyte, the basic structure that is instrumental in normal filtration process. The disease can manifest from birth and into adulthood, the primary focus of this review would be to describe the novel genes and pathology of primary podocyte defects that cause NS in children. This review will restrict itself to the pathology of congenital NS, minimal change disease (MCD), and its variants and focal segmental glomerulosclerosis (FSGS). This review summarizes the pathological characteristics of these conditions and delves into the various genetic defects that have been described as the cause of these primary podocytopathies.

INTRODUCTION
PATHOPHYSIOLOGY OF NS
CAUSES OF NEPHROTIC SYNDROME IN CHILDREN
GENETICS OF NS
ROLE OF RENAL BIOPSY IN DIAGNOSIS OF NS
Significant clinical association
Congenital Nephrotic Syndrome of Finnish Type
Diffuse Mesangial Sclerosis
Mitochondrial Adult DNA
Minimal Change Disease
Focal Segmental Glomerulosclerosis
Collapsing Glomerulopathy
CNS Finnish type
Collapsing glomerulopathy
Findings
Normal or FSGS
Full Text
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