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Congenital Nephrotic Syndrome
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. Signs and symptoms 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. Complications * Frequent, severe infections: urinary loss of immunoglobulins * Malnutrition and poor gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Disease
Kidney disease, or renal disease, technically referred to as nephropathy, is damage to or disease of a kidney. Nephritis is an Inflammation, inflammatory kidney disease and has several types according to the location of the inflammation. Inflammation can be diagnosed by blood tests. Nephrosis is non-inflammatory kidney disease. Nephritis and nephrosis can give rise to nephritic syndrome and nephrotic syndrome respectively. Kidney disease usually causes a loss of Assessment of kidney function, kidney function to some degree and can result in kidney failure, the complete loss of kidney function. Kidney failure is known as the end-stage of kidney disease, where Kidney dialysis, dialysis or a Kidney transplantation, kidney transplant is the only treatment option. Chronic kidney disease is defined as prolonged kidney abnormalities (functional and/or structural in nature) that last for more than three months. Acute kidney disease is now termed acute kidney injury and is marked by the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Podocin
Podocin is a protein component of the filtration slits of podocytes. Glomerulus (kidney), Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney Glomerulus (kidney), glomerulus. Mutations in the podocin gene ''NPHS2'' can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood. Structure Podocin is a membrane protein of the Stomatin, band-7-stomatin Protein family, family, consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of nephrin, with CD2AP serving as an adaptor. Function Podocin is localized on the membranes of podocyte foot processes (pedicels) where it oligomerizes in lipid rafts ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malaria
Malaria is a Mosquito-borne disease, mosquito-borne infectious disease that affects vertebrates and ''Anopheles'' mosquitoes. Human malaria causes Signs and symptoms, symptoms that typically include fever, Fatigue (medical), fatigue, vomiting, and headaches. In severe cases, it can cause jaundice, Epileptic seizure, seizures, coma, or death. Symptoms usually begin 10 to 15 days after being bitten by an infected ''Anopheles'' mosquito. If not properly treated, people may have recurrences of the disease months later. In those who have recently survived an infection, reinfection usually causes milder symptoms. This partial Immunity (medical), resistance disappears over months to years if the person has no continuing exposure to malaria. The mosquitoes themselves are harmed by malaria, causing reduced lifespans in those infected by it. Malaria is caused by protozoa, single-celled microorganisms of the genus ''Plasmodium''. It is spread exclusively through bites of infected female ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rubella
Rubella, also known as German measles or three-day measles, is an infection caused by the rubella virus. This disease is often mild, with half of people not realizing that they are infected. A rash may start around two weeks after exposure and last for three days. It usually starts on the face and spreads to the rest of the body. The rash is sometimes itchy and is not as bright as that of measles. Lymphadenopathy, Swollen lymph nodes are common and may last a few weeks. A fever, sore throat, and fatigue may also occur. arthritis, Joint pain is common in adults. Complications may include bleeding problems, orchitis, testicular swelling, encephalitis, and neuritis, inflammation of nerves. Infection during early pregnancy may result in a miscarriage or a child born with congenital rubella syndrome (CRS). Symptoms of CRS manifest as problems with the eyes such as cataracts, deafness, as well as affecting the heart and brain. Problems are rare after the 20th week of pregnancy. Rubel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Toxoplasmosis
Toxoplasmosis is a parasitic disease caused by ''Toxoplasma gondii'', an apicomplexan. Infections with toxoplasmosis are associated with a variety of neuropsychiatric and behavioral conditions. Occasionally, people may have a few weeks or months of mild, flu-like illness such as muscle aches and tender lymph nodes. In a small number of people, eye problems may develop. In those with a Immunodeficiency, weakened immune system, severe symptoms such as seizures and poor coordination may occur. If a person becomes infected during pregnancy, a condition known as congenital toxoplasmosis may affect the child. Toxoplasmosis is usually spread by eating poorly cooked food that contains Microbial cyst, cysts, by exposure to infected cat feces, or from an infected woman to her baby during pregnancy. Rarely, the disease may be spread by blood transfusion or other organ transplant. It is not otherwise spread between people. The parasite is only known to reproduce sexually in the Felidae, ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytomegalovirus
''Cytomegalovirus'' (CMV) (from ''cyto-'' 'cell' via Greek - 'container' + 'big, megalo-' + -''virus'' via Latin 'poison') is a genus of viruses in the order '' Herpesvirales'', in the family '' Herpesviridae'', in the subfamily '' Betaherpesvirinae''. Humans and other primates serve as natural hosts. The 11 species in this genus include '' human betaherpesvirus 5'' (HCMV, human cytomegalovirus, HHV-5), which is the species that infects humans. Diseases associated with HHV-5 include mononucleosis and pneumonia, and congenital CMV in infants can lead to deafness and ambulatory problems. In the medical literature, most mentions of CMV without further specification refer implicitly to human CMV. Human CMV is the most studied of all cytomegaloviruses. MX2/MXB protein was identified as a restriction factor for herpesviruses, which acts at a very early stage of the replication cycle and MX2/MXB restriction of herpesvirus requires GTPase activity. Taxonomy Within the '' Her ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Syphilis
Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy or at childbirth, birth. It may present in the fetus, infant, or later. Clinical features vary and differ between early onset, that is presentation before 2-years of age, and late onset, presentation after age 2-years. Infection in the fetus, unborn baby may present as intrauterine growth restriction, poor growth, hydrops fetalis, non-immune hydrops leading to premature birth or perinatal mortality, loss of the baby, or asymptomatic, no signs. Affected newborns mostly initially have no clinical signs. They may be Low birth weight, small and irritable. Characteristic features include a rash, fever, hepatosplenomegaly, large liver and spleen, a rhinitis, runny and congested nose, and periostitis, inflammation around bone or perichondritis, cartilage. There may be jaundice, adenopathy, large glands, pneumonia (pneumonia alba), meningitis, condylomata lata ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcoria
Microcoria is a congenital disease in which the pupils of the subject are narrower than 2 mm in diameter. Microcoria is associated with juvenile-onset glaucoma. It is also associated with Pierson syndrome characterized by microcoria and congenital nephrotic syndrome. The defect is in the Laminin beta 2 gene on chromosome 3p21 which encodes a protein essential to the glomerular basement membrane.Zenker et al., 2004. Zenker M., Aigner T., Wendler O., et al: Human laminin beta 2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004; 13:2625-2632 It is also part of the known manifestations of a born infant to a mother suffering from uncontrolled hyperglycemia. Other symptoms include transposition of great vessels, respiratory distress secondary to surfactant defect, sacral agensis, jitteriness, irritability, and lethargy due to rebound fetal hypoglycemia. Congenital microcoria is an autosomal dominant trait. However, i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glomerular Basement Membrane
The glomerular basement membrane of the kidney is the basal lamina layer of the glomerulus. The glomerular endothelial cells, the glomerular basement membrane, and the filtration slits between the podocytes perform the filtration function of the glomerulus, separating the blood in the capillaries from the filtrate that forms in Bowman's capsule. The glomerular basement membrane is a fusion of the endothelial cell and podocyte basal laminas, and is the main site of restriction of water flow. Glomerular basement membrane is secreted and maintained by podocyte cells. Layers The glomerular basement membrane contains three layers: The glomerular membrane consists of mesangial cells, modified pericytes that in other parts of the body separate capillaries from each other. The podocytes adjoining them have filtration slits of diameter 25 nm that are formed by the pseudopodia arising from them. The filtration slits are covered by a diaphragm that includes the transmembrane protein ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Podocyte
Podocytes are cells in Bowman's capsule in the kidneys that wrap around capillaries of the glomerulus. Podocytes make up the epithelial lining of Bowman's capsule, the third layer through which filtration of blood takes place. Bowman's capsule filters the blood, retaining large molecules such as proteins while smaller molecules such as water, salts, and sugars are filtered as the first step in the formation of urine. Although various viscera have epithelial layers, the name visceral epithelial cells usually refers specifically to podocytes, which are specialized epithelial cells that reside in the visceral layer of the capsule. The podocytes have long primary processes called ''trabeculae'' that form secondary processes known as ''pedicels'' or foot processes (for which the cells are named '' podo-'' + '' -cyte''). The pedicels wrap around the capillaries and leave slits between them. Blood is filtered through these slits, each known as a filtration slit, slit diaphragm, or sl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pierson Syndrome
{{disambiguation, geo ...
Pierson or Piersons may refer to: Places * Pierson, Florida * Pierson, Iowa * Pierson, Manitoba * Pierson, Michigan * Pierson College of Yale University * Pierson Creek, a stream in Iowa * Piersons Lake, a lake in Minnesota Other uses * Pierson (surname) See also * Peirson, given name and surname *Pearson (other) Pearson may refer to: Organizations Education *Lester B. Pearson College, Victoria, British Columbia, Canada *Pearson College (UK), London, owned by Pearson PLC *Lester B. Pearson High School (other) Companies * Pearson plc, a UK-based in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Laminin, Beta 2
Laminin subunit beta-2 is a protein that in humans is encoded by the ''LAMB2'' gene. Function Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms, which were formerly designated by Arabic numerals in the order of their discovery, e.g. alpha1beta1gamma1 heter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
