Congenital Nephrotic Syndrome

Congenital and infantile nephrotic syndrome are those that manifest themselves during the first year of life. These include the diffuse mesangial sclerosis and nephrotic syndrome of the Finnish type.

The nephrotic syndrome is more common in children than in adults.

Congenital and infantile nephrotic syndrome are those that manifest themselves during the first year of life. These include the diffuse mesangial sclerosis and nephrotic syndrome of the Finnish type. The nephrotic syndrome is more common in children than in adults. Congenital and infantile nephrotic syndrome are usually 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 Histopathologien are not specific enough. In the early stages aggressive treatment ACE inhibitors, angiotensin II receptor blockers and NSAIDs (. Eg indomethacin) may comprise for proteinuria; Diuretics, i. v. Albumin and fluid restriction for edema as well as antibiotics, anticoagulation and overeating. a rektomie, followed by dialysis or kidney transplant may be necessary to stop the proteinuria. Diffuse mesangial sclerosis This nephrotic syndrome is rare. Inheritance is variable. It is caused by a mutation in the PLCE1 gene encoding the phospholipase C epsilon. A progression to end stage renal disease occurs at the age of 2 or 3 years. In patients with severe proteinuria due to severe hypoalbuminemia a bilateral nephrectomy may be necessary. The dialysis should be initiated at an early stage in order to alleviate nutritional deficiencies and failure to thrive. The disorder usually occurs in the graft. Nephrotic syndrome of the Finnish type This syndrome is an autosomal recessive disorder that affects the Finnish 1/8200 newborns and which is caused by a mutation in the NPHS1 gene for the podozytäre slot membrane protein (nephrin) coded. The Finnish nephrotic syndrome usually progresses rapidly and leads within a year for dialysis. Most patients die within a year. A few could be until the occurrence of renal failure nutritionally supported and then treated by dialysis or transplantation. However, the disease can recur in a kidney transplant. Other congenital nephrotic syndrome Various other rare congenital nephrotic syndrome are now described genetically. These disorders include Kortikosteroidresistentes nephrotic syndrome (feher exemplary NPHS2-gene coding for Podocin), Familial focal segmental glomerulosclerosis (defective ACTN 4 gene, coding for alpha-actin-4), Denis-Drash syndrome characterized by diffuse mesangial sclerosis, male pseudohermaphroditism and Wilms’ tumor (WT1 defective gene) is characterized.

Health Life Media Team

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