We report on a girl who was diagnosed with classical hereditary xanthinuria due to an incidental finding of extremely low Levels of uric acid in the blood. The girl is compLetely asymptomatic. Hereditary xanthinuria is a rare autosomal recessive disease that usually causes early urolithiasis but may cause rheumatoid arthritis-like disease and even be associated with defects in the formation of bone, hair and teeth. In Israel it has mostly been described in patients of Bedouin origin. Throughout the world, only about 150 cases have been described; about two thirds of these patients were asymptomatic. Since the clinical presentation and age of symptom appearance are diverse, the case raises questions as to the required follow-up of these patients and as to whether a low oxalate diet should be initiated.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
[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 PDFXanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat.
J Feline Med Surg
May 2024
Sydney School of Veterinary Science, Faculty of Science, University of Sydney, Sydney, NSW, Australia.
Case Series Summary: Four confirmed cases of xanthinuria in cats, and one suspected case based on pedigree analysis, were identified. Clinical presentations varied and included haematuria, pollakiuria, dysuria, and urethral and ureteral obstruction. All cats had upper urinary tract uroliths.
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 PDFResearch progress on renal calculus associate with inborn error of metabolism.
Zhejiang Da Xue Xue Bao Yi Xue Ban
April 2023
Department of Urology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China.
Renal calculus is a common disease with complex etiology and high recurrence rate. Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!