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Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3 months of life, and is characterized by high levels of protein in the urine (proteinuria), low levels of protein in the blood, and swelling. [1]
Nephronophthisis is a genetic disorder of the kidneys which affects children. [3] It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy. [4]
Nephrotic syndrome is a collection of symptoms due to kidney damage. This includes protein in the urine , low blood albumin levels , high blood lipids , and significant swelling . Other symptoms may include weight gain, feeling tired, and foamy urine.
Minimal change disease (MCD), also known as lipoid nephrosis or nil disease, among others, is a disease affecting the kidneys which causes nephrotic syndrome. [1] Nephrotic syndrome leads to the loss of significant amounts of protein to the urine (proteinuria), which causes the widespread edema (soft tissue swelling) and impaired kidney function commonly experienced by those affected by the ...
Primary forms of glomerulonephrosis can occur at any age, although it is found in adults more commonly than children. The most common cause of glomerulonephrosis in children is Minimal Change Disease where they make up a majority of cases. There are 10-50 cases per 100,000 children, with male cases being twice as common as female cases. [16]
This constellation of symptoms contrasts with the classical presentation of nephrotic syndrome (excessive proteinuria >3.5 g/day, low plasma albumin levels (hypoalbuminemia) <3 g/L, generalized edema, and hyperlipidemia). [8] [10] Signs and symptoms that are consistent with nephritic syndrome include: Hematuria (red blood cells in the urine) [11]
Similar to other causes of nephrotic syndrome (e.g., focal segmental glomerulosclerosis or minimal change disease), membranous nephropathy is known to predispose affected individuals to develop blood clots such as pulmonary emboli. Membranous nephropathy in particular is known to increase this risk more than other causes of nephrotic syndrome ...
Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene.