congenital Nephrosis

A congenital nephrotic syndrome; patients present with PROTEINURIA; HYPOALBUMINEMIA; HYPERLIPIDEMIA, and EDEMA. Biopsies show nonspecific histologic changes such as MINIMAL CHANGE GLOMERULOPATHY; FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS), and diffuse mesangial proliferation. Nephrotic syndrome type 1 (OMIM: 256300) presents with prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome at birth with rapid progression to CHRONIC KIDNEY FAILURE. Germline mutations have been identified in the NPHS1 gene for type 1; NPHS2 gene for type 2 (OMIM: 600995); and the PLCE1 gene for type 3 (OMIM: 610725).

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Networked: 54 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hydrocephalus (Hydrocephaly)
2.	Membranous Glomerulonephritis (Membranous Nephropathy)
3.	Proteinuria
4.	Neural Tube Defects (Exencephaly)
5.	Kidney Diseases (Kidney Disease)

Experts

1.	Ruotsalainen, Vesa: 4 articles (11/2004 - 02/2001)
2.	Tryggvason, Karl: 4 articles (11/2004 - 02/2001)
3.	Holmberg, Christer: 3 articles (11/2007 - 02/2001)
4.	Jalanko, Hannu: 3 articles (11/2004 - 02/2001)
5.	Mehta, Lakshmi: 2 articles (10/2016 - 01/2015)
6.	Schneidman-Duhovny, Dina: 2 articles (10/2016 - 01/2015)
7.	Patrakka, Jaakko: 2 articles (05/2002 - 02/2001)
8.	Bi, Huixia: 1 article (05/2020)
9.	Bi, Xingyu: 1 article (05/2020)
10.	Cheng, Yanbing: 1 article (05/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to congenital Nephrosis:

1.	alpha-Fetoproteins (alpha-Fetoprotein)IBA 10/01/1978 - "The efficacy of maternal serum and amniotic fluid alpha-fetoprotein (AFP) estimation for the prenatal detection of congenital nephrosis was assessed in 23 pregnancies of couples with a previously affected child. " 08/01/2014 - "Maternal serum alpha-fetoprotein levels peak at 19-21 weeks' gestation and subsequently decline in an NPHS1 sequence variant heterozygote; implications for prenatal diagnosis of congenital nephrosis of the Finnish type." 11/01/1997 - "Maternal serum alpha-fetoprotein levels in congenital nephrosis." 03/01/1997 - "Haplotype analysis and alpha-fetoprotein quantitation comprise a prenatal diagnosis of congenital nephrosis. " 08/01/1995 - "Three fetuses with normal karyotypes and high amniotic fluid alpha-fetoprotein levels had congenital nephrosis. "
2.	nephrinIBA 03/01/2014 - "The expression of nephrin and Neph3 is altered in human proteinuric diseases emphasizing the importance of studying the transcriptional regulation of the nephrin and Neph3 genes NPHS1 (nephrosis 1, congenital, Finnish type) and KIRREL2 (kin of IRRE-like 2) respectively. " 11/01/2004 - "Nephrin-deficient proteinuric patients with Finnish-type congenital nephrosis and nephrin-knockout mice had only narrow filtration slits that lacked the slit diaphragm network and the 35-nm-long strands but contained shorter molecular structures. " 08/01/2003 - "Nephrin is mutated in congenital nephrosis of the Finnish type (NPHS1) and has been demonstrated to be an essential component of the slit diaphragm. " 03/01/2003 - "Mutations in both nephrin gene (NPHS1) alleles lead to congenital nephrosis, podocyte foot process efacement, and loss of slit-diaphragm structure. " 02/01/2001 - "Mutations in the nephrin gene (NPHS1) lead to congenital nephrosis, suggesting that nephrin is essential for the glomerular filtration barrier. "
3.	Proteins (Proteins, Gene)FDA Link 01/01/2008 - "Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3." 01/01/2003 - "Mutations in the gene encoding nonmuscle alpha-actinin-4 (actinin-4), an actin cross-linking protein, lead to congenital nephrosis. " 11/01/1990 - "In both of these cases, similar to other reported cases of congenital nephrosis having MSAFP screening, the protein concentrations were greater than or equal to 10 multiples of the median (MOM). " 12/01/2004 - "This protein may play a crucial role in maintaining the glomerular filtration barrier, and mutations in the gene for nephrin reportedly lead to congenital nephrosis. " 10/01/2015 - "Mutations in human POGLUT1 cause Dowling-Degos Disease, POGLUT1 is overexpressed in a variety of tumor cells, and mutations in the EGF repeats of human CRUMBS proteins are associated with human congenital nephrosis, retinitis pigmentosa and retinal degeneration, suggesting that O-glucosylation of CRUMBS proteins has broad roles in human health. "
4.	Laminin (Merosin)IBA 04/01/1985 - "Accumulation of laminin and type IV collagen in the kidney in congenital nephrosis." 01/01/2018 - "Congenital nephrotic syndrome (CNS) is primarily a monogenetic disease, with the majority of cases due to changes in five different genes: the nephrin (NPHS1), podocin (NPHS2), Wilms tumor 1 (WT1), laminin ß2 (LAMB2), and phospholipase C epsilon 1 (PLCE1, NPHS3) gene. " 05/01/2016 - "Based on the data present in the literature, we reviewed the following topics: 1) Infection associated CNS including congenital syphilis, congenital toxoplasmosis, and congenital cytomegalovirus infection; 2) genetic CNS including mutation of NPHS1 (Nephrin), NPHS2 (Podocin), WT1, LAMB2 (Laminin-β2), PLCE1 (NPHS3); 3) Other forms of CNS including maternal systemic lupus erythematosus, mercury poisoning, renal vein thrombosis, neonatal alloimmunization against neutral endopeptidase. "
5.	AlbuminsIBA 07/01/1994 - "We conclude that (1) the prenatal diagnosis of congenital nephrosis is feasible in a low-risk population, and (2) an elevated AF albumin concentration may represent an additional marker for the diagnosis of congenital nephrosis, even though false-negative results have been reported." 07/01/1994 - "We reviewed our series of seven cases of congenital nephrosis fulfilling the above criteria; four cases had negative family histories, and in two cases the diagnosis of congenital nephrosis was further supported by the presence of elevated AF albumin concentrations. " 01/01/2020 - "Older children, congenital nephrosis, height and weight below the 3rd percentile, low albumin level, and long duration of antibiotic therapy were associated with a higher rate of peritonitis. " 01/01/2020 - "The generalized Poisson model identified older children (age >  10 years) (adjusted rate ratios [aRR] = 7.273, 95% CI: 1.562-33.860), congenital nephrosis (aRR = 4.677, 95% CI: 1.443-15.155), height below 3rd percentile (aRR = 4.689, 95% CI: 1.874-11.735), weight below 3rd percentile (aRR = 5.388, 95% CI: 1.678-17.302), low albumin level (aRR = 4.041, 95% CI: 2.053-7.956), two-week duration of antibiotic therapy (aRR = 2.947, 95% CI: 1.163-7.468), which were independently associated with a high peritonitis rate. " 01/01/1977 - "Though the fetus was macroscopically normal, measurement of albumin, alpha-FP, IgG, and alpha2-macroglobulin in the fetal urine showed a selective proteinuria, and congenital nephrosis was diagnosed after examination of the fetal kidneys by electron microscopy. "
6.	AcetylcholinesteraseIBA 11/01/1990 - "Furthermore, in the case of a pregnancy with elevated amniotic fluid AFP with negative acetylcholinesterase and normal ultrasound, the possibility of congenital nephrosis should be mentioned, regardless of family history or ancestry. " 04/01/2001 - "The combination of an elevated amniotic fluid alpha-fetoprotein, a negative acetylcholinesterase, and a negative ultrasound examination is highly indicative of congenital nephrosis; however, these findings can also be associated with a normal gestation. " 11/01/1992 - "In cases of elevated maternal serum alpha-fetoprotein, with unexplained and marked elevations of amniotic fluid alpha-fetoprotein and normal acetylcholinesterase levels, the diagnosis of congenital nephrosis must be considered regardless of ethnic origin."
7.	Thyroxine (Levothyroxine)FDA LinkGeneric 09/01/1980 - "Congenital nephrosis can be detected by neonatal screening programs which use thyroxine as the primary screening test, but not by those which use TSH. " 06/01/2008 - "We report our experience with one child with congenital nephrotic syndrome, Finnish type, and hypothyroidism who had a high requirement for thyroxin (100-150 microg/d) from infancy to 4 years of age. "
8.	SteroidsIBA 01/01/1985 - "We describe a case of nephrotic syndrome (idiopathic membranous glomerulonephropathy) with high serum HDL cholesterol (91 mg/100 ml) which increased to 240 mg/100 ml following steroid therapy. " 06/01/2008 - "Second, the recent identification of autosomal recessive nephrotic syndrome type 3 (NPHS3) caused by mutations in the phospholipase PLCE1 gene has, for the first time, shown steroid responsiveness in H-CHNS. "
9.	Lipoprotein Lipase (Diacylglycerol Lipase)IBA 06/01/1993 - "Changes in biological activity and immunoreactive mass of lipoprotein lipase in congenital nephrosis: relationship to hypertriglyceridaemia." 05/01/1994 - "Short-term effects of renal transplantation on plasma lipids and lipoprotein lipase in children with congenital nephrosis."
10.	LipidsIBA 06/01/1993 - "The major lipid disturbance in children with congenital nephrosis of the Finnish type (CNF) is hypertriglyceridaemia. " 05/01/1994 - "Short-term effects of renal transplantation on plasma lipids and lipoprotein lipase in children with congenital nephrosis."

Therapies and Procedures

1.	Therapeutics 09/01/1982 - "Growth failure due to uremia and congenital nephrosis: growth enhancement by aggressive nutritional therapy." 06/01/2008 - "Therapy response in NPHS3 is documented and could open insights into direct genomic and nongenomic effects of glucocorticoids on podocytes. " 01/01/2020 - "Older children, congenital nephrosis, height and weight below the 3rd percentile, low albumin level, and long duration of antibiotic therapy were associated with a higher rate of peritonitis. " 01/01/2020 - "The generalized Poisson model identified older children (age >  10 years) (adjusted rate ratios [aRR] = 7.273, 95% CI: 1.562-33.860), congenital nephrosis (aRR = 4.677, 95% CI: 1.443-15.155), height below 3rd percentile (aRR = 4.689, 95% CI: 1.874-11.735), weight below 3rd percentile (aRR = 5.388, 95% CI: 1.678-17.302), low albumin level (aRR = 4.041, 95% CI: 2.053-7.956), two-week duration of antibiotic therapy (aRR = 2.947, 95% CI: 1.163-7.468), which were independently associated with a high peritonitis rate. " 01/01/1985 - "We describe a case of nephrotic syndrome (idiopathic membranous glomerulonephropathy) with high serum HDL cholesterol (91 mg/100 ml) which increased to 240 mg/100 ml following steroid therapy. "
2.	Peritoneal Dialysis 11/01/2007 - "We studied 16 bilaterally nephrectomised infants with congenital nephrosis of the Finnish type (median age 0.54 years), all on peritoneal dialysis. " 09/01/1993 - "Two children with congenital nephrosis of the Finnish type were studied successively at the three stages of the disease: (A) nephrosis, (B) renal insufficiency/peritoneal dialysis and (C) post-transplantation; two additional patients were studied at two stages. " 01/01/1992 - "Factors limiting the erythropoietin response in rapidly growing infants with congenital nephrosis on a peritoneal dialysis regimen after nephrectomy."
3.	Kidney Transplantation 09/01/1993 - "In conclusion, severe hyperlipoproteinemia of congenital nephrosis at the nephrotic stage is attenuated during renal insufficiency and dialysis, and essentially normalizes after kidney transplantation. " 05/01/1994 - "Short-term effects of renal transplantation on plasma lipids and lipoprotein lipase in children with congenital nephrosis."
4.	Transplantation 09/01/1993 - "Two children with congenital nephrosis of the Finnish type were studied successively at the three stages of the disease: (A) nephrosis, (B) renal insufficiency/peritoneal dialysis and (C) post-transplantation; two additional patients were studied at two stages. "
5.	Nephrectomy 01/01/1992 - "Factors limiting the erythropoietin response in rapidly growing infants with congenital nephrosis on a peritoneal dialysis regimen after nephrectomy."