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Finnish congenital nephrotic syndrome

Synonyms
Congenital Finnish Nephrosis; Congenital nephrotic syndrome 1; NEPHROTIC SYNDROME, TYPE 1; Nephrosis 1, congenital, Finnish type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.\n\nChildren with congenital nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.\n\nThe features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome. [from MedlinePlus Genetics]

Available tests

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Clinical tests (71 available)

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  • Also known as: CNF, NPHN, nephrin, NPHS1
    Summary: NPHS1 adhesion molecule, nephrin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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