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Hyperoxaluria
Hyperoxaluria is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones. It is sometimes called Bird's disease, after Golding Bird, who first described the condition. Causes Hyperoxaluria can be primary (as a result of a genetic defect) or secondary to another disease process. Type I primary hyperoxaluria (PH1) is associated mutations in the gene encoding AGXT, a key enzyme involved in oxalate metabolism. PH1 is an example of a protein mistargeting disease, wherein AGXT shows a trafficking defect. Instead of being trafficked to peroxisomes, it is targeted to mitochondria, where it is metabolically deficient despite being catalytically active. Type II is associated with GRHPR. Secondary hyperoxaluria can occur as a complication of jejunoileal bypass, or in a patient who has lost much of the ileum with an intact colon. In these cases, hyperoxaluria is caused by excessive gastrointestinal oxalate absorption. Excessive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primary Hyperoxaluria
Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of oxalate (up to 600 mg a day from normal 50 mg a day), with oxalate stones being common. Signs and symptoms Primary hyperoxaluria is an autosomal recessive disease, meaning both copies of the gene contain the mutation. Both parents must have one copy of this mutated gene to pass it on to their child, but they do not typically show signs or symptoms of the disease. A single kidney stone in children or recurrent stones in adults is often the first warning sign of primary hyperoxaluria. Other symptoms range from recurrent urinary tract infections, severe abdominal pain or pain in the side, blood in the urine, to chronic kidney disease and kidney failure. The age of symptom onset, progression and severity can vary greatly from one person to another, even among members of the same family. Some individuals may have mild cases that go undiagnosed well into adulthood; others may d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primary Hyperoxaluria
Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of oxalate (up to 600 mg a day from normal 50 mg a day), with oxalate stones being common. Signs and symptoms Primary hyperoxaluria is an autosomal recessive disease, meaning both copies of the gene contain the mutation. Both parents must have one copy of this mutated gene to pass it on to their child, but they do not typically show signs or symptoms of the disease. A single kidney stone in children or recurrent stones in adults is often the first warning sign of primary hyperoxaluria. Other symptoms range from recurrent urinary tract infections, severe abdominal pain or pain in the side, blood in the urine, to chronic kidney disease and kidney failure. The age of symptom onset, progression and severity can vary greatly from one person to another, even among members of the same family. Some individuals may have mild cases that go undiagnosed well into adulthood; others may d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GRHPR
Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the ''GRHPR'' gene. This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D- glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria Hyperoxaluria is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones. It is sometimes called Bird's disease, after Golding Bird, who first described the condition. Causes Hyperoxalur ... is caused by mutations in this gene. GRHPR mutation analysis needs to pay attention to primer design, because allele dropout can cause false-positive result. References External links GeneReviews/NCBI/NIH/UW entry on Primary Hyperoxaluria Type 2 Further reading * * * * * * * * * * * * {{gene-9-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jejunoileal Bypass
Jejunoileal bypass (JIB) was a surgical weight-loss procedure performed for the relief of morbid obesity from the 1950s through the 1970s in which all but 30 cm (12 in) to 45 cm (18 in) of the small bowel were detached and set to the side. Many complications that followed jejunoileal bypass operations were caused by bacterial overgrowth in the excluded blind loop. The arthritis-dermatitis syndrome was one of the common distressing disorders. The pathogenetic mechanism was thought to be an immune-complex-mediated process related to bypass enteritis. Problems Two variants of jejunoileal anastomosis were developed, the end-to-side and end-to end(Scott, Dean et al. 1973) anastomoses of the proximal jejunum to distal ileum. In both instances an extensive length of small intestine was bypassed, not excised, excluding it from the alimentary stream. In both these variants a total of only about 45 cm (18 in) of normally absorptive small intestine was retain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AGXT
Serine—pyruvate aminotransferase is an enzyme that in humans is encoded by the ''AGXT'' gene. This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targeting, have been associated with Primary hyperoxaluria, type I primary hyperoxaluria. See also *Peroxisomal disorder References External links GeneReviews/NIH/NCBI/UW entry on Primary Hyperoxaluria Type 1* * Further reading * * * * * * * * * * * * * * * * * {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Transplantation
Kidney transplant or renal transplant is the organ transplant of a kidney into a patient with end-stage kidney disease (ESRD). Kidney transplant is typically classified as deceased-donor (formerly known as cadaveric) or living-donor transplantation depending on the source of the donor organ. Living-donor kidney transplants are further characterized as genetically related (living-related) or non-related (living-unrelated) transplants, depending on whether a biological relationship exists between the donor and recipient. Before receiving a kidney transplant, a person with ESRD must undergo a thorough medical evaluation to make sure that they are healthy enough to undergo transplant surgery. If they are deemed a good candidate, they can be placed on a waiting list to receive a kidney from a deceased donor. Once they are placed on the waiting list, they can receive a new kidney very quickly, or they may have to wait many years; in the United States, the average waiting time is three ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Idiopathic
An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin. From Greek ἴδιος ''idios'' "one's own" and πάθος ''pathos'' "suffering", ''idiopathy'' means approximately "a disease of its own kind". For some medical conditions, one or more causes are somewhat understood, but in a certain percentage of people with the condition, the cause may not be readily apparent or characterized. In these cases, the origin of the condition is said to be idiopathic. With some other medical conditions, the root cause for a large percentage of all cases have not been established—for example, focal segmental glomerulosclerosis or ankylosing spondylitis; the majority of these cases are deemed idiopathic. Medical advances and this term Advances in medical science improve the understanding of causes of diseases and the classification of diseases; thus, regarding any particular condition or disease, as more root causes are discovered and as events ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rhubarb
Rhubarb is the fleshy, edible stalks ( petioles) of species and hybrids (culinary rhubarb) of '' Rheum'' in the family Polygonaceae, which are cooked and used for food. The whole plant – a herbaceous perennial growing from short, thick rhizomes – is also called rhubarb. Historically, different plants have been called "rhubarb" in English. The large, triangular leaves contain high levels of oxalic acid and anthrone glycosides, making them inedible. The small flowers are grouped in large compound leafy greenish-white to rose-red inflorescences. The precise origin of culinary rhubarb is unknown. The species '' Rheum rhabarbarum'' (syn. ''R. undulatum'') and '' R. rhaponticum'' were grown in Europe before the 18th century and used for medicinal purposes. By the early 18th century, these two species and a possible hybrid of unknown origin, ''R.'' × ''hybridum'', were grown as vegetable crops in England and Scandinavia. They readily hybridize, and culina ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Colon (anatomy)
The large intestine, also known as the large bowel, is the last part of the gastrointestinal tract and of the digestive system in tetrapods. Water is absorbed here and the remaining waste material is stored in the rectum as feces before being removed by defecation. The colon is the longest portion of the large intestine, and the terms are often used interchangeably but most sources define the large intestine as the combination of the cecum, colon, rectum, and anal canal. Some other sources exclude the anal canal. In humans, the large intestine begins in the right iliac region of the pelvis, just at or below the waist, where it is joined to the end of the small intestine at the cecum, via the ileocecal valve. It then continues as the colon ascending the abdomen, across the width of the abdominal cavity as the transverse colon, and then descending to the rectum and its endpoint at the anal canal. Overall, in humans, the large intestine is about long, which is abo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ileum
The ileum () is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. Its main function is to absorb vitamin B12, bile salts, and whatever products of digestion that were not absorbed by the jejunum. The ileum follows the duodenum and jejunum and is separated from the cecum by the ileocecal valve (ICV). In humans, the ileum is about 2–4 m long, and the pH is usually between 7 and 8 (neutral or slightly basic). ''Ileum ''is derived from the Greek word ''eilein'', meaning "to twist up tightly". Structure The ileum is the third and final part of the small intestine. It follows the jejunum and ends at the ileocecal junction, where the terminal ileum communicates with the cecum of the large intestine through the ileocecal valve. The ileum, along with the jejunum, is susp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oxalate
Oxalate (IUPAC: ethanedioate) is an anion with the formula C2O42−. This dianion is colorless. It occurs naturally, including in some foods. It forms a variety of salts, for example sodium oxalate (Na2C2O4), and several esters such as dimethyl oxalate (C2O4(CH3)2). It is a conjugate base of oxalic acid. At neutral pH in aqueous solution, oxalic acid converts completely to oxalate. Relationship to oxalic acid The dissociation of protons from oxalic acid proceeds in a stepwise manner; as for other polyprotic acids, loss of a single proton results in the monovalent hydrogenoxalate anion . A salt with this anion is sometimes called an acid oxalate, monobasic oxalate, or hydrogen oxalate. The equilibrium constant ( ''K''a) for loss of the first proton is (p''K''a = 1.27). The loss of the second proton, which yields the oxalate ion, has an equilibrium constant of (p''K''a = 4.28). These values imply, in solutions with neutral pH, no oxalic acid and only trace ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oxalate
Oxalate (IUPAC: ethanedioate) is an anion with the formula C2O42−. This dianion is colorless. It occurs naturally, including in some foods. It forms a variety of salts, for example sodium oxalate (Na2C2O4), and several esters such as dimethyl oxalate (C2O4(CH3)2). It is a conjugate base of oxalic acid. At neutral pH in aqueous solution, oxalic acid converts completely to oxalate. Relationship to oxalic acid The dissociation of protons from oxalic acid proceeds in a stepwise manner; as for other polyprotic acids, loss of a single proton results in the monovalent hydrogenoxalate anion . A salt with this anion is sometimes called an acid oxalate, monobasic oxalate, or hydrogen oxalate. The equilibrium constant ( ''K''a) for loss of the first proton is (p''K''a = 1.27). The loss of the second proton, which yields the oxalate ion, has an equilibrium constant of (p''K''a = 4.28). These values imply, in solutions with neutral pH, no oxalic acid and only trace ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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