Nephrotic & Congenital Nephrotic Syndrome
Nephrotic Syndrome
Nephrotic syndrome is treated by finding and treating the root cause, if possible, and reducing protein in the urine, high cholesterol, high blood pressure, or both through diet, medication, or both. If the essential cause is found and treated, nephrotic syndrome may disappear. However, kidney disease frequently constitutes the underlying cause and cannot be treated. The patient will either require dialysis or a kidney transplant if kidney failure occurs.
A condition characterized by extremely high protein levels in the urine is called nephrotic syndrome. swelling, especially around the eyes, feet, and hands, low blood protein levels; and elevated cholesterol Nephrotic syndrome is a set of symptoms rather than a disease.
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is defined as the appearance of proteinuria, hypoalbuminemia and edema in the nephrotic range, starting in the first 3 months of life. It is usually secondary to genetic mutations in the components of the glomerular filtration barrier, but infectious causes must be ruled out. Genetic analysis revealed that there is a homozygous single base pair duplication in exon 20 of the NPHS1 gene (chr19: 36332624dupG; depth: 216x), resulting in a shift in reading frame and premature truncation of 6 amino acids in the protein.