(See also Overview of Nephrotic Syndrome Overview of Nephrotic Syndrome Nephrotic syndrome is urinary excretion of > 3 g of protein/day due to a glomerular disorder plus edema and hypoalbuminemia. It is more common among children and has both primary and secondary... read more .)
Congenital and infantile nephrotic syndromes are generally rare inherited defects in glomerular filtration. Symptoms are centered around proteinuria, edema, and hypoproteinemia. These diseases are best diagnosed by their gene mutations, because their presentations and histopathologies are not sufficiently specific. Early, aggressive treatment may include angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor II blockers, and nonsteroidal anti-inflammatory drugs (NSAIDs, eg, indomethacin) for proteinuria; diuretics, IV albumin, and fluid restriction for edema; and antibiotics, anticoagulation, and hypernutrition. Nephrectomy, followed by dialysis Hemodialysis In hemodialysis, a patient’s blood is pumped into a dialyzer containing 2 fluid compartments configured as bundles of hollow fiber capillary tubes or as parallel, sandwiched sheets of semipermeable... read more or kidney transplantation Kidney Transplantation Kidney transplantation is the most common type of solid organ transplantation. (See also Overview of Transplantation.) The primary indication for kidney transplantation is End-stage renal failure... read more , may be necessary to stop the proteinuria.
This nephrotic syndrome is rare. Inheritance is variable. It is caused by a mutation in the PLCE1 gene, which codes for phospholipase C epsilon. Progression to end-stage renal failure occurs by age 2 or 3 years.
Patients with severe proteinuria may require bilateral nephrectomy because of severe hypoalbuminemia; dialysis Hemodialysis In hemodialysis, a patient’s blood is pumped into a dialyzer containing 2 fluid compartments configured as bundles of hollow fiber capillary tubes or as parallel, sandwiched sheets of semipermeable... read more 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 year. Most patients die within 1 year, but a few have been supported nutritionally until renal failure occurs and then managed with dialysis Overview of Renal Replacement Therapy Renal replacement therapy (RRT) replaces nonendocrine kidney function in patients with renal failure and is occasionally used for some forms of poisoning. Techniques include continuous hemofiltration... read more or transplantation Kidney Transplantation Kidney transplantation is the most common type of solid organ transplantation. (See also Overview of Transplantation.) The primary indication for kidney transplantation is End-stage renal failure... read more . 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 NPHS2 gene coding for podocin)
Familial focal segmental glomerulosclerosis Focal Segmental Glomerulosclerosis Focal segmental glomerulosclerosis is scattered (segmental) mesangial sclerosis that begins in some but not all (focal) glomeruli and eventually involves all glomeruli. It is most often idiopathic... read more (defective ACTN 4 gene coding for alpha-actin 4)
Denys-Drash syndrome, which is characterized by diffuse mesangial sclerosis, male pseudohermaphroditism, and Wilms tumor Wilms Tumor Wilms tumor is an embryonal cancer of the kidney composed of blastemal, stromal, and epithelial elements. Genetic abnormalities have been implicated in the pathogenesis, but familial inheritance... read more (defective WT1 gene)