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Congenital Nephrotic Syndromes
Congenital and infantile nephrotic syndromes are those that manifest during the first year of life. They include diffuse mesangial sclerosis and Finnish-type nephrotic syndrome.
Nephrotic syndrome is more prevalent among children than adults (see Overview of Nephrotic Syndrome).
This nephrotic syndrome is rare. Inheritance is variable. Progression to end-stage renal failure occurs by age 2 or 3 yr.
Patients with severe proteinuria may require bilateral nephrectomy because of severe hypoalbuminemia; dialysis should be initiated early to ameliorate nutritional deficits and mitigate failure to thrive. The disorder usually recurs in a renal graft.
This syndrome is an autosomal recessive disorder that affects 1/8200 Finnish neonates and is caused by a mutation in the NPHS1 gene, which codes for a podocytic slit-diaphragm protein (nephrin).
Finnish-type nephrotic syndrome is rapidly progressive and usually necessitates dialysis within 1 yr. Most patients die within 1 yr, but a few have been supported nutritionally until renal failure occurs and then managed with dialysis or transplantation. However, the disorder may recur in a renal graft.
Several other rare congenital nephrotic syndromes are now genetically characterized. These disorders include corticosteroid-resistant nephrotic syndrome (defective NPS2 gene coding for podocin), familial focal segmental glomerulosclerosis (defective ACTN 4 gene coding for α-actin 4), and Denys-Drash syndrome, which is characterized by diffuse mesangial sclerosis, male pseudohermaphroditism, and Wilms tumor (defective WT1 gene).
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