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[Analysis of a family with hypouricemia due to type Ⅰ xanthinuria].
Zhonghua Yi Xue Za Zhi
November 2024
Department of Endocrinology, the Affiliated Hospital of Kunming University of Science and Technology, the First People's Hospital of Yunnan Province, Kunming650000, China.
This article reports a patient presenting with"extremely low uric acid levels in blood and urine"clinically along with reviewing relevant literature to consider a diagnosis of xanthinuria. Peripheral blood samples of the patient and her family were further collected for xanthine dehydrogenase(XDH) gene sequencing, showing that the patient had compound heterozygous mutations in exon 19:c.1995_2006del12(p.
View Article and Find Full Text PDF[Uric Acid Metabolism, Uric Acid Transporters and Dysuricemia].
Yakugaku Zasshi
June 2024
Department of Pathophysiology, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences.
Serum urate levels are determined by the balance between uric acid production and uric acid excretion capacity from the kidneys and intestinal tract. Dysuricemia, including hyperuricemia and hypouricemia, develops when the balance shifts towards an increase or a decrease in the uric acid pool. Hyperuricemia is mostly a multifactorial genetic disorder involving several disease susceptibility genes and environmental factors.
View Article and Find Full Text PDFHypouricaemia in a patient with hereditary xanthinuria type I.
Lancet
April 2024
Department of Pathology, AZ Delta, Roeselare, Belgium.
Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease.
Nephron
August 2024
Group of Research and Development in Nephrology and Infectious Diseases, i3S - Institute for Health Research and Innovation, University of Porto, Porto, Portugal.
Hereditary xanthinuria (HXAN) is a rare metabolic disorder that results from mutations in either the xanthine dehydrogenase (XDH) or the molybdenum cofactor sulfurase genes (MOCOS), respectively defining HXAN type I and type II. Hypouricemia, hypouricosuria, and abnormally high plasma and urine levels of xanthine, causing susceptibility to xanthine nephrolithiasis and deposition of xanthine crystals in tissues, are the metabolic hallmarks of HXAN. Several pathogenic variants in the XDH gene have so far been identified in patients with HXAN type I, but the clinical phenotype associated with the whole deletion of the human XDH gene is unknown.
View Article and Find Full Text PDFXanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function.
Intern Med
May 2022
Department of Cardiovascular Medicine, Yonago Medical Center, Japan.
Whether or not extremely low levels of serum uric acid (SUA) in xanthinuria are associated with impairment of the endothelial function and exercise-induced acute kidney injury (EIAKI) is unclear. A 59-year-old woman without EIAKI or urolithiasis had undetectable levels of UA in serum and urine and elevated levels of hypoxanthine and xanthine in urine. A genetic analysis revealed homozygous mutations in the XDH gene [c.
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