Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Citrin, encoded by SLC25A13, is a liver-type mitochondrial aspartate-glutamate carrier (AGC), of which deficiency, in autosomal recessive trait, causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). NICCD patients have jaundice, hypoproteinemia, hypoglycemia, galactosemia, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine. Some of the neonates who have experienced NICCD suffer from severe CTLN2 more than 10 years or several decades later. In CTLN2, neuropsychotic symptoms such as disorientation, aberrant behavior, coma and death are observed. Laboratory findings reveal hyperammonemia, citrullinemia, fatty liver and liver-specific decrease in a urea cycle enzyme, argininosuccinate synthetase (ASS). In some cases, hyperlipidemia, pancreatitis and hepatoma are accompanied with CTLN2. Citrin as a liver-type AGC plays a role in supplying aspartate to the cytosol for urea, protein and nucleotide synthesis by exchanging mitochondrial aspartate for cytosolic glutamate and proton, and transporting cytosolic NADH reducing equivalent to mitochondria as a member of malate aspartate shuttle essential for aerobic glycolysis. AGC is also important for gluconeogenesis from lactate. Although it is difficult to explain pathogenesis of the symptoms such as cholestasis in NICCD and liver-specific decrease of ASS protein in CTLN2 from the functions of the AGC, some are understandable by the loss of citrin functions. Many CTLN2 patients have been treated with a low protein and high carbohydrate diet and glycerol at the hyperammonemic coma. We argue that those treatments may result in fatty liver, hyperlipidemia, hyperammonemia and even death due to loss of the citrin functions. Loss of citrin first cause deficiency of aspartate in the cytosol, which results in an increase in cytosolic NADH/NAD(+) ratio and then activation of fatty acid synthesis pathway to compensate the aberrant ratio. This follows inhibition of fatty acid oxidation. The peculiar fondness for food of CTLN2 patients who like protein and dislike carbohydrate and sweets may be related to their metabolic requirements.
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PMID:Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. 1619 99

The management of a handful of non renal clinical conditions includes peritoneal dialysis (PD) as a therapeutic tool. Peritoneal lavage after abdominal surgery is still performed in infectious peritonitis and cases of necrotizing hemorrhagic pancreatitis. Use of PD in active psoriasis resulted in approximately 40 papers reporting mostly isolated cases and showing both therapeutic success and failure. That ambiguous picture persisted during controlled studies, and interest in treating psoriasis with PD faded over the last 20 years. As an emergency tool, PD has been also used in the treatment of metabolic crisis resulting from inborn errors of metabolism such as deficiency of any of the five enzymes of the urea cycle and other inherited disorders of organic and aminoacid metabolism such as maple syrup urine disease, citrullinemia, and propionic acidemia. Recent studies have shown that continuous hemofiltration therapies have more effective clearances than PD does. Similar observations were reported for the use of PD in drug poisoning. Peritoneal dialysis is still a valuable tool as a complementary measure in the treatment of hypothermia. Recently, prospective work in patients affected by end-stage congestive heart failure has shown that maintenance PD significantly lowers morbidity and mortality and substantially improves functional capabilities and quality of life in these otherwise terminally ill patients.
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PMID:Use of peritoneal dialysis and mesothelium in non primary renal conditions. 1988 8

Kazal-type serine protease inhibitor is one of the most important and widely distributed protease inhibitor families. Pancreatic secretory trypsin inhibitor (PSTI), also known as serine protease inhibitor Kazal type I(SPINK1), binds rapidly to trypsin, inhibits its activity and is likely to protect the pancreas from prematurely activated trypsinogen. Therefore, it is an important factor in the onset of pancreatitis. Recent studies found that PSTI/SPINK1 is also involved in self-regulation of acinar cell phagocytosis, proliferation and growth of a variety of cell lines. In addition, it takes part in the response to inflammatory factor or injury and is highly related to adult type II citrullinemia.
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PMID:Pancreatic secretory trypsin inhibitor: More than a trypsin inhibitor. 2160 45