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What is The Finnish type of Congenital Nephritic syndrome occurs due to Gene mutation affecting the following protein and explain in detail?
It occurs due to gene mutation NPHS 1 which encodes nephron and the protein is affected and results in massive protein loss , edema. Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage kidney disease. Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been repoed worldwide. Congenital nephrotic syndrome Finnish type is caused by mutations in the NPHS1 gene and is inherited in an autosomal recessive manner. At this time, kidney transplantation seems to be the only treatment available for this condition. Reference: GHAI Essential pediatrics, 8th edition