Hereditary Xanthinuria

Frayha, Rida A.; Salti, Ibrahim; Arnaout, A; Khatchadurian, A; Uthman, S

doi:10.1159/000180910

Cited by 16 publications

(2 citation statements)

References 8 publications

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“…A physiological role for the anti-oxidant effects of uric acid might be expected to be evident in individuals lacking uric acid; however, patients with the genetic condition xanthinuria—a deficiency of xanthine oxidase —completely lack uric acid yet are not known to suffer any untoward consequences other than the development of xanthine stones. 7 Therefore, high levels of uric acid do not seem to be essential in normal physiological conditions. With that being said, this finding does not rule out the possibility that uric acid has a physiological role in more- selective situations and there are hints that this might be the case.…”

Section: Physiology Of Uric Acidmentioning

confidence: 99%

Uric acid as a danger signal in gout and its comorbidities

2012

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Uric acid is a waste product of purine catabolism. This molecule comes to clinical attention when it nucleates to form crystals of monosodium urate (MSU) in joints or other tissues and thereby causes the inflammatory disease of gout. Patients with gout also frequently suffer from a number of co-morbid conditions including hypertension, diabetes mellitus and cardiovascular disease. Why MSU crystals trigger inflammation and are associated with comorbidities of gout has been unclear, but recent studies provide new insights these issues. Rather than simply being a waste product, uric acid could serve a pathophysiological role as a local alarm signal that alerts the immune system to cell injury and helps to trigger both innate and adaptive immune responses. The inflammatory component of these immune responses is caused when urate crystals trigger both inflammasome-dependent and independent pathways to generate the proinflammatory cytokine IL-1. The resulting bioactive IL-1 stimulates the inflammation of gout and might contribute to the development of other comorbidities. Surprisingly, the same mechanisms underlie the inflammatory response to a number of irritant particles, many of which also cause disease. These new insights help to explain the pathogenesis of gout and point to potential new therapeutic targets for this and other sterile inflammatory diseases.

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Section: Physiology Of Uric Acidmentioning

confidence: 99%

Uric acid as a danger signal in gout and its comorbidities

2012

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“…Die meisten Patienten sind völlig beschwerdefrei und fallen lediglich wegen ihrer stark erniedrigten (< 2 mg/100ml; 119 µmol/l) Harnsäure im Serum auf. Lediglich 30-40% der Patienten sind Harnsteinbildner (1,8,12).…”

Section: Xanthinurie Mil Harnsteinbildung Im Kindesalterunclassified

Xanthinurie mit Harnsteinbildung im Kindesalter

Strauven¹,

Hesse²,

Thon³

et al. 1989

Aktuel Urol

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Genetic diseases in Lebanon

et al. 1980

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Lebanon has a high incidence of common and rare genetic diseases, due probably to the mosaic different ethnic origins and the high rate of consanguineous marriages in certain communities. Two major investigations, exploring the genetic structure of the Lebanese population, indicated the population to be caucasiods (though Oriental traits were found). These investigations involved studies of dermatoglyphics, and type and distribution of genetic markers and protein variants. Recorded genetic diseases, some characteristic of ethnic group or particular to a geographic region include familial paroxysmal polyserositis, familial hypercholesterolemia, hypothroidism, the Dyggve-Melchoir-Clausen syndrome, Sandhoff disease, and various genetic hematologic diseases. Genetic counseling and care to patients with genetic diseases is available in Beirut from the Faculty of Medicine at American University and St. Joseph University. Also, the Lebanese National Council for Scientific Research initiates and finances medical genetics programs.

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Hereditary Xanthinuria

Cited by 16 publications

References 8 publications

Uric acid as a danger signal in gout and its comorbidities

Uric acid as a danger signal in gout and its comorbidities

Xanthinurie mit Harnsteinbildung im Kindesalter

Genetic diseases in Lebanon

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