Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital nephrotic syndrome (CNS) is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth. The majority of cases are caused by genetic defects in the components of the glomerular filtration barrier, especially nephrin and podocin. CNS may also be a part of a more generalized syndrome or caused by a perinatal infection. Immunosuppressive medication is not helpful in the genetic forms of CNS, and kidney transplantation is the only curative therapy. Before the operation, management of these infants largely depends on the magnitude of proteinuria. In severe cases, daily albumin infusions are required to prevent life-threatening edema. The therapy also includes hypercaloric diet, thyroxin and mineral substitution, prevention of thrombotic episodes, and prompt management of infectious complications. The outcome of CNS patients without major extrarenal manifestations is comparable with other patient groups after kidney transplantation.
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PMID:Congenital nephrotic syndrome. 1796 94

Congenital nephrotic syndrome of the Finnish type is a serious renal disease belonging to the Finnish disease heritage. It appears as substantial proteinuria, hypoproteinemia and edema in a newborn. Kidney transplantation is the only effective treatment. The cause of the disease is a mutation in the gene encoding the nephrin protein. Nephrin is produced by the epithelial cell (podocyte) of the glomerulus. It is expressed in the slit membrane connecting the pedicles of the podocyte. This finding has revolutionized the concept of glomerular filtration and set off active research on the pathogenetic mechanisms of proteinuria.
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PMID:[Congenital nephrotic syndrome of the Finnish type--key to the mechanisms of proteinuria]. 2169 1