A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase

CEN Case Reports
Akira IguchiIchiei Narita

Abstract

Hereditary hypouricemia is generally caused by renal hypouricemia, an autosomal recessive disorder that is characterized by impaired renal tubular uric acid transport, or by xanthinuria, a rare autosomal recessive disorder caused by a deficiency of xanthine dehydrogenase (XDH; xanthinuria type I) or by a deficiency of both XDH and aldehyde oxidase (xanthinuria type II). In contrast to renal hypouricemia, which sometimes leads to exercise-induced acute kidney injury (EIAKI), xanthinuria has not been associated with this disorder. We report here a case of xanthinuria type I due to a compound heterozygous mutation. A 46-year-old woman was found to have undetectable plasma and urinary levels of uric acid. She had no symptoms and no history of EIAKI. Xanthinuria type I was diagnosed following the allopurinol loading test. Mutation analysis revealed a compound heterozygous mutation [c.305A>G (p.Gln102Arg) and c.2567delC (p.Thr856Lysfs*73)] in the XDH gene. Of these two mutations, the former is novel. The patient did not exhibit EIAKI. However, because xanthinuria is a rare disease, the identification of additional cases is necessary to determine whether this disease is complicated with EIAKI.

References

Feb 28, 1984·Clinica Chimica Acta; International Journal of Clinical Chemistry·T KojimaK Nishioka
Jun 1, 1995·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·J Y Yeun, J A Hasbargen
Jun 9, 2000·Kidney International·D LevartovskyH Peretz
Apr 17, 2001·Biochemical and Biophysical Research Communications·K IchidaT Nishino
Oct 11, 2003·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Faysal GokRezan Topaloglu
Dec 25, 2003·Journal of the American Society of Nephrology : JASN·Kimiyoshi IchidaTatsuo Hosoya
May 20, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Toshiyuki OhtaUNKNOWN ARF Assocoated with Renal Hypouricemia Research Group
Nov 23, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Nina ArikyantsBeat Steinmann
Feb 28, 2008·Pharmacogenetics and Genomics·Mutsumi KudoMasahiro Hiratsuka
Jan 16, 2010·Journal of Inherited Metabolic Disease·Agnieszka JureckaAnna Tylki-Szymanska
Jul 24, 2012·Internal Medicine·Yutaka FujiwaraKimiyoshi Ichida
Sep 18, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Makiko NakamuraKimiyoshi Ichida
Dec 4, 2012·International Journal of Molecular Sciences·Kimiyoshi IchidaTakeshi Nishino

❮ Previous
Next ❯

Citations

Feb 14, 2019·Journal of Veterinary Internal Medicine·Krystal J VailEva Furrow
Oct 28, 2019·Clinical Rheumatology·Carlos PinedaHugo Sandoval
Dec 21, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gulsah Kaya AksoySema Akman
Sep 8, 2020·American Journal of Physiology. Endocrinology and Metabolism·Masato Furuhashi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Faysal GokRezan Topaloglu
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
Barbara BoruckaDariusz Chlubek
© 2022 Meta ULC. All rights reserved