Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An abnormal fibrinogen was found in a patient associated with disabling recurrent phlebitis and pulmonary emboli, pseudotumor cerebri, gout and endometriosis. The fibrinogen is characterized by (1) abnormal side-to-side and end-to-end polymerization, (2) abnormal fibrinopeptide release, (3) a delayed gamma-gamma dimerization of the non cross-linked fibrin, (4) a pH optimum of 7--7.8, and (5) a deviation from normal amino acid composition with regard to lysine, aspartic acid, glutamic acid and serine. Since no defect has been found in any of her three children, and since the prothromin and partial thromboplastin times vary from time to time, it is assumed that the defect is acquired. Liver disease, usually associated with acquired abnormal fibrinogen, has been excluded as an etiological cause since liver function tests and biopsy are completely normal.
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PMID:An acquired abnormal fibrinogen associated with thromboembolic disease and pseudotumor cerebri. 50 12

A single amino acid substitution in the beta chain of hemoglobin (beta 6 glutamic acid leads to valine) is responsible for polymerization of deoxyhemoglobin S, and the sickling of red blood cells containing that hemoglobin. Sickled cells are rigid and inflexible, causing obstruction of small blood vessels, which in turn causes obstruction of small blood vessels, which in turn causes ischemic injury. Organs most frequently damaged include the spleen, bone marrow, liver, and kidney. Sickled cells also have a shortened survival; the hemolytic anemia they produce is responsible for aplastic crises, megaloblastic anemia, ankle ulcers, gallstones and gout. "Sickle cell lung disease" is a serious problem, since distinction between infection and infarction is difficult or impossible, and impaired oxygenation of the blood makes further sickling likely. Since the entire patient, not just his blood, is affected by the disease, treatment must go beyond transfusion and drug administration. Each patient presents a new constellation of problems, and therapy must be individualized if it is to be optimal.
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PMID:One view of the pathogenesis of sickle cell diseases. 662 67

The early events in gout are not clear. In the present studies a chemotactic factor having a molecular weight of 8,400 has been identified in human gouty synovial fluid. Washed crystals from a tophus were shown to generate chemotactic activity when added to polymorphonuclear leukocytes. Amino acid analysis demonstrated this chemotactic factor to be relatively rich in glycine, serine, aspartic acid, glutamic acid and alanine. Evidence from canine experiments suggest that chemotactic activity may also be produced by synovial lining cells. The amount of chemotactic activity that can be demonstrated diminishes over time in joints repeatedly injected with urate crystals.
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PMID:Demonstration of chemotactic factor in human gout: further characterization of occurrence and structure. 732 64

1. Hyperuricemia is common among the gouty relatives as reported by others (8-11). It is of interest to note that serum urate fluctuates periodically. Hyperuricemia is not necessarily maintained in a steady state throughout the years. Thus a single determination of serum uric acid can be misleading. 2. Development of gout from asymptomatic hyperuricemia is often correlated with the degree of hyperuricemia as observed from population or family studies (12-14). The data presented indicate that unequivocal hyperuricemia is more often accompanied by excessive excretion of uric acid, diminished excretion of ammonia and abnormally high plasma glutamic acid. All are undoubtedly important risk factors for gout. 3. The elevated glutamate could be due to a deficiency of glutamic dehydrogenase, as postulated by Pagliara and Goodman (15). In presence of intracellular accumulation of glutamate in glutamic dehydrogenase deficiency, renal production of ammonium may be reduced due to its inhibitory action on glutaminase 1. As a result of a renal block of ammonia formation, the glutamine in surplus may be diverted for uric acid synthesis. 4. Long-term studies indicate serum urate in most hyperuricemia relatives of gout can be modified by environmental factors, such as diet, weight and changes of life style. When hyperuricemia is under better control, the potential hazard of developing symptomatic gout may be circumvented.
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PMID:The natural history of hyperuricemia among asymptomatic relatives of patients with gout. 742 21

Uromodulin-related autosomal-dominant tubulointerstitial kidney disease (ADTKD-UMOD) is a rare monogenic disorder that is characterized by tubulointerstitial fibrosis and progression of kidney function loss, and may progress to end-stage renal disease. It is usually accompanied by hyperuricaemia and gout. Mutations in the uromodulin gene (UMOD) resulting in malfunctioning of UMOD are known to be the cause of ADTKD-UMOD, which is assumed to be an endoplasmatic reticulum (ER) storage disease. As a case vignette, we report a 29-year-old female with a suspicious family history of chronic kidney disease presenting with progressive loss of renal function, hyperuricaemia and frequent urinary tract infections. Urinary tract infections and pyelonephritides may represent a clinical feature of uromodulin malfunction as it plays a protective role against urinary tract infections despite only sporadic data on this topic. ADTKD-UMOD was diagnosed after genetic testing revealing a missense mutation in the UMOD gene. Light microscopy showed excessive tubular interstitial fibrosis and tubular atrophy together with signs of glomerular sclerosis. Electron microscopic findings could identify electron dense storage deposits in the ER of tubular epithelial cells of the thick ascending loop. Immunohistological staining with KDEL (lysine, aspartic acid, glutamic acid, leucine) showed positivity in the tubular cells, which likely represents ER expansion upon accumulation of misfolded UMOD which could trigger the unfolded protein response and ER stress. This review highlights pathophysiological mechanisms that are subject to ADTKD-UMOD.
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PMID:Uromodulin-related autosomal-dominant tubulointerstitial kidney disease-pathogenetic insights based on a case. 3097 93