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Familial Renal Amyloidosis
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney. It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). and, less commonly, with congenital mutations in apolipoprotein A1 and lysozyme Lysozyme (EC 3.2.1.17, muramidase, ''N''-acetylmuramide glycanhydrolase; systematic name peptidoglycan ''N''-acetylmuramoylhydrolase) is an antimicrobial enzyme produced by animals that forms part of the innate immune system. It is a glycoside .... It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950. References External links Glomerular diseases Amyloidosis {{disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nephrology
Nephrology (from Greek'' nephros'' "kidney", combined with the suffix ''-logy'', "the study of") is a specialty of adult internal medicine and pediatric medicine that concerns the study of the kidneys, specifically normal kidney function (renal physiology) and kidney disease (renal pathophysiology), the preservation of kidney health, and the treatment of kidney disease, from diet and medication to renal replacement therapy ( dialysis and kidney transplantation). The word “renal” is an adjective meaning “relating to the kidneys”, and its roots are French or late Latin. Whereas according to some opinions, "renal" and "nephro" should be replaced with "kidney" in scientific writings such as "kidney medicine" (instead of nephrology) or "kidney replacement therapy", other experts have advocated preserving the use of renal and nephro as appropriate including in "nephrology" and "renal replacement therapy", respectively. Nephrology also studies systemic conditions that aff ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyloidosis
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. There are several non-specific and vague signs and symptoms associated with amyloidosis. These include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and Orthostatic hypotension, feeling faint with standing. In AL amyloidosis, specific indicators can include enlargement of the tongue and periorbital purpura. In wild-type ATTR amyloidosis, non-cardiac symptoms include: bilateral carpal tunnel syndrome, lumbar spinal stenosis, biceps tendon rupture, Small fiber peripheral neuropathy, small fiber neuropathy, and autonomic dysfunction. There are about 36 different types of amyloidosis, each due to a specific Proteopathy, protein misfolding. Within these 36 proteins, 19 are grouped into Organ-limited amyloidosis, localized forms, 14 are grouped as Systemic disease, systemic forms, and 3 proteins can identify as either. These proteins can become irre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, acid–base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hydrogen, ammonium, potassium and uric acid. The nephron is the structural and functional unit of the kidney. Each adult human kidney contains around 1 million nephrons, while a mouse kidney contains on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrinogen Alpha Chain
Fibrinogen alpha chain is a protein that in humans is encoded by the ''FGA'' gene. Function The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein composed of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin, which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia, and renal amyloidosis. Alternative splicing results in two isoforms that vary in the carboxy-terminus. Interactions Fibrinogen alpha chain has been shown to interact with tissue plasminogen activator. See also *Fibrinogen gamma chain Fibrinogen gamma chain, also known as fibrinogen gamma gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysfibrinogenemia
The dysfibrinogenemias consist of three types of fibrinogen disorders in which a critical blood clotting factor, fibrinogen, circulates at normal levels but is dysfunctional. Congenital dysfibrinogenemia is an inherited disorder in which one of the parental genes produces an abnormal fibrinogen. This fibrinogen interferes with normal blood clotting and/or lysis of blood clots. The condition therefore may cause pathological bleeding and/or thrombosis. Acquired dysfibrinogenemia is a non-hereditary disorder in which fibrinogen is dysfunctional due to the presence of liver disease, autoimmune disease, a plasma cell dyscrasias, or certain cancers. It is associated primarily with pathological bleeding. Hereditary fibrinogen Aα-Chain amyloidosis is a sub-category of congenital dysfibrinogenemia in which the dysfunctional fibrinogen does not cause bleeding or thrombosis but rather gradually accumulates in, and disrupts the function of, the kidney. Congenital dysfibrinogenemia is the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apolipoprotein A1
Apolipoprotein AI (ApoA-I) is a protein that in humans is encoded by the ''APOA1'' gene. As the major component of HDL particles, it has a specific role in lipid metabolism. Structure ''APOA1'' is located on chromosome 11, with its specific location being 11q23-q24. The gene contains 4 exons. The encoded apolipoprotein A-I, is a 28.1 kDa protein composed of 243 amino acids; 21 peptides have been observed through mass spectrometry data. Function Apolipoprotein AI is the major protein component of high density lipoprotein (HDL) particles in plasma. Chylomicrons secreted from the intestinal enterocyte also contain apo-AI, but it is quickly transferred to HDL in the bloodstream. The protein, as a component of HDL particles, enables efflux of fat molecules by accepting fats from within cells (including macrophages within the walls of arteries which have become overloaded with ingested fats from oxidized LDL particles) for transport (in the water outside cells) elsewhere, including ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysozyme
Lysozyme (EC 3.2.1.17, muramidase, ''N''-acetylmuramide glycanhydrolase; systematic name peptidoglycan ''N''-acetylmuramoylhydrolase) is an antimicrobial enzyme produced by animals that forms part of the innate immune system. It is a glycoside hydrolase that catalyzes the following process: : Hydrolysis of (1→4)-β-linkages between ''N''-acetylmuramic acid and ''N''-acetyl-D-glucosamine residues in a peptidoglycan and between ''N''-acetyl-D-glucosamine residues in chitodextrins Peptidoglycan is the major component of gram-positive bacterial cell wall. This hydrolysis in turn compromises the integrity of bacterial cell walls causing lysis of the bacteria. Lysozyme is abundant in secretions including tears, saliva, human milk, and mucus. It is also present in cytoplasmic granules of the macrophages and the polymorphonuclear neutrophils (PMNs). Large amounts of lysozyme can be found in egg white. C-type lysozymes are closely related to α-lactalbumin in sequence and structure ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glomerular Diseases
''Glomerulus'' () is a common term used in anatomy to describe globular structures of entwined vessels, fibers, or neurons. ''Glomerulus'' is the diminutive of the Latin ''glomus'', meaning "ball of yarn". ''Glomerulus'' may refer to: * the filtering unit of the kidney; see Glomerulus (kidney). * a structure in the olfactory bulb; see Glomerulus (olfaction). * the contact between specific cells in the cerebellum; see Glomerulus (cerebellum) The cerebellar glomerulus is a small, intertwined mass of nerve fiber terminals in the granular layer of the cerebellar cortex. It consists of post-synaptic granule cell dendrites and pre-synaptic Golgi cell axon terminals surrounding the pre- .... See also * Glomerulation, a hemorrhage of the bladder {{SIA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
