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. This disease is primarily caused by genetic mutations which result in damage to components of the glomerular filtration barrier and allow for leakage of plasma proteins into the urinary space.
Urine protein loss leads to total body swelling (generalized edema) and abdominal distension in the first several weeks to months of life. Fluid retention may lead to cough (from pulmonary edema), ascites, and widened cranial sutures and fontanelles. High urine protein loss can lead to foamy appearance of urine. Infants may be born prematurely with low birth weight, and have meconium stained amniotic fluid or a large placenta.
Frequent, severe infections: urinary loss of immunoglobulins
Malnutrition and poor growth
Blood clots (hypercoagulability): imbalance of plasma coagulation factors from urine protein loss
Hypothyroidism: urinary loss of thyroid-binding protein
Poor bone health associated with vitamin D deficiency: urinary loss of vitamin D binding protein
Acute kidney injury
Chronic kidney disease and ultimately end-stage kidney disease
Mutations in the following five genes account for greater than 80% of the genetic causes of congenital nephrotic syndrome:
NPHS1 (Finnish Type): The gene NPHS1 encodes for the protein nephrin. This genetic variant is characterized by severe protein loss in the first several days to weeks of life. Fin-major and Fin-minor were the first two main genetic mutations identified in Finnish newborns, however, numerous mutations have now been identified in patients all over the world from various ethnic groups. NPHS1 mutations are the most common cause of primary congenital nephrotic syndrome, accounting for 40-80% of cases.
NPHS2: This gene encodes for the protein podocin. Patients with this genetic mutation develop nephrotic syndrome in the first few weeks of infancy, but can also manifest symptoms later in life.
Cette page est générée automatiquement et peut contenir des informations qui ne sont pas correctes, complètes, à jour ou pertinentes par rapport à votre recherche. Il en va de même pour toutes les autres pages de ce site. Veillez à vérifier les informations auprès des sources officielles de l'EPFL.
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. This disease is primarily caused by genetic mutations which result in damage to components of the glomerular filtration barrier and allow for leakage of plasma proteins into the urinary space. Urine protein loss leads to total body swelling (generalized edema) and abdominal distension in the first several weeks to months of life.
Un est un gonflement d'un organe ou d'un tissu dû à une accumulation ou un excès intratissulaire de liquides dans le milieu interstitiel chez les animaux ou dans les cellules chez les végétaux. L'œdème peut avoir de nombreuses causes primitives. Le mot œdème se prononce traditionnellement edεm, mais la prononciation ødεm est fréquente. Les prononciations [edεm] et [ødεm] sont décrites. Normalement, la quantité de liquide interstitiel est à l'équilibre ; on parle d'homéostasie.
Le 'rein' est un organe de l'appareil urinaire des vertébrés. Il a de multiples fonctions : hormonales, de régulation de la pression sanguine et d'élimination des toxines. Il assure ainsi, par filtration et excrétion d'urine, l'équilibre hydroélectrolytique (homéostasie) du sang et de l'organisme en général. Ses fonctions hormonales comprennent la synthèse de l'érythropoïétine, du calcitriol (forme active de la vitamine D) et de la rénine.