- Overview of Glomerular Disorders
- Overview of Nephritic Syndrome
- Alport Syndrome
- Immunoglobulin A Nephropathy
- Postinfectious Glomerulonephritis (PIGN)
- Rapidly Progressive Glomerulonephritis (RPGN)
- Thin Basement Membrane Disease
- Overview of Nephrotic Syndrome
- Congenital Nephrotic Syndromes
- Diabetic Nephropathy
- Focal Segmental Glomerulosclerosis
- HIV-Associated Nephropathy
- Membranous Nephropathy
- Minimal Change Disease
- Fibrillary and Immunotactoid Glomerulopathies
- Lupus Nephritis
- Membranoproliferative Glomerulonephritis
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.
(See also Overview of Nephrotic Syndrome.)
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 II receptor 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 receptor 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 bydialysis or kidney transplantation, may be necessary to stop the proteinuria.
Diffuse mesangial sclerosis
This nephrotic syndrome is rare. Inheritance is variable. It can be caused by a mutation in the PLCE1 gene, which codes for phospholipase C epsilon, or occur as part of Denys-Drash or other syndromes. Progression to kidney failure occurs in the first several years of life (1).
Patients with severe proteinuria may require bilateral nephrectomy because of severe hypoalbuminemia; dialysis should be initiated early to ameliorate nutritional deficits and mitigate growth or weight faltering (previously, failure to thrive). The disorder usually recurs in a renal graft.
Finnish-type nephrotic syndrome
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 more than half of patients require dialysis within 1 year (2). Mortality is approximately 25% (based on a study with median followup of 32 months) (2). The disorder may recur in a renal graft.
Other congenital nephrotic syndromes
Several other rare congenital nephrotic syndromes are genetically characterized. These disorders include
Corticosteroid-resistant nephrotic syndrome (defective NPHS2 gene coding for podocin)
Familial focal segmental glomerulosclerosis (defective ACTN 4 gene coding for alpha-actin 4)
Denys-Drash syndrome, which is characterized by diffuse mesangial sclerosis, male pseudohermaphroditism, and Wilms tumor (defective WT1 gene)
References
1. Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M. Evolutive study of children with diffuse mesangial sclerosis. Pediatr Nephrol 2009;24(5):1013-1019. doi:10.1007/s00467-008-1063-z
2. Bérody S, Heidet L, Gribouval O, et al. Treatment and outcome of congenital nephrotic syndrome. Nephrol Dial Transplant 2019;34(3):458-467. doi:10.1093/ndt/gfy015
