Abstract
Kalıtımsal hipoürisemiye genellikle ksantinüri ve herediter renal hipoürisemi yol açmaktadır. Hipoürisemi serum ürik asit seviyesinin 2mg/dl’den düşük olması olarak tanımlanmaktadır. Ksantinüri her yaşta, nadir görülen ve otozomal resesif geçen bir hatalıktır. Ksantin ve hipoksantin, enzim veya kofaktör eksikliği sonucu ürik asite dönüşümü olmaz ve kanda birikir, ayrıca idrar ile atılımı artar. Serum ve idrarda ürik asit seviyesi çok düşük saptanmaktadır. Biz bu makalede,hipoürisemi saptanan ve ksantinüri tanısı konulan yetmiş yediyaşında kadınhasta litaratüreşliğinde tartışıldı.
Keywords
References
- Grases F, Costa-Bauza A, Roig J, Rodriguez A. Xanthine urolithiasis: Inhibitors of xanthine crystallization. bioRxiv, 2018;335364.
- Sebesta I, Stiburkova B, Krijt J. Hereditary xanthinuria is not so rare disorder of purine metabolism. Nucleosides Nucleotides Nucleic Acids. 2018; 3:1-5.
- Raivio KO, Saksela M, Lapatto R. Xanthine oxidoreductase: role in human pathophysiology and in hereditary xanthinuria. In: Scriver CR, Beaudest AL, Sly WS, Valle D (Edds) The methabolic and molecular bases of inheredited diseases, 8th edn. New York. McGraw-Hill, 2001;2639-52.
- Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B. Modern diagnostic approach to hereditary xanthinuria. Urolithiasis, 2015;43(1), 61-67.;
- Simmonds HA. Hereditary xanthinuria. Orphanet Encyclopedia. 2003.
- Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A.Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.J Inherit Metab Dis. 2010;33(3):S21-4
- Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B. Modern diagnostic approach to hereditary xanthinuria.Urolithiasis. 2015;43(1):61-7.
- Martín, N. Esparza, and V. García Nieto. “Hypouricemia and tubular transport of uric acid.” Nefrologia 2011;31(1):44-50
Abstract
Xanthinuria and hereditary renal hypouricemia usually leads to hereditary hypouricemia. Hypouricemia is defined as having serum uric acid level lower than 2 ml/dl. Xanthinuria is an autosomal recessive disease that can be occasionally seen in all ages. As a result of enzyme or cofactor deficiency, xanthine and hypoxanthine do not convert to uric acid and accumulate in the blood and increase the excretion in urine. The level of uric acid is detected very low either in serum or in urine. In this study, a case of a seventy-seven-year-old female patient in which hypouricemia was detected and who had the diagnosis of xanthinuria was discussed.
Keywords
References
- Grases F, Costa-Bauza A, Roig J, Rodriguez A. Xanthine urolithiasis: Inhibitors of xanthine crystallization. bioRxiv, 2018;335364.
- Sebesta I, Stiburkova B, Krijt J. Hereditary xanthinuria is not so rare disorder of purine metabolism. Nucleosides Nucleotides Nucleic Acids. 2018; 3:1-5.
- Raivio KO, Saksela M, Lapatto R. Xanthine oxidoreductase: role in human pathophysiology and in hereditary xanthinuria. In: Scriver CR, Beaudest AL, Sly WS, Valle D (Edds) The methabolic and molecular bases of inheredited diseases, 8th edn. New York. McGraw-Hill, 2001;2639-52.
- Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B. Modern diagnostic approach to hereditary xanthinuria. Urolithiasis, 2015;43(1), 61-67.;
- Simmonds HA. Hereditary xanthinuria. Orphanet Encyclopedia. 2003.
- Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A.Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.J Inherit Metab Dis. 2010;33(3):S21-4
- Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B. Modern diagnostic approach to hereditary xanthinuria.Urolithiasis. 2015;43(1):61-7.
- Martín, N. Esparza, and V. García Nieto. “Hypouricemia and tubular transport of uric acid.” Nefrologia 2011;31(1):44-50
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Report |
| Authors | |
| Publication Date | March 26, 2019 |
| Submission Date | December 10, 2018 |
| Acceptance Date | March 5, 2019 |
| Published in Issue | Year 2019 Volume: 10 Issue: 36 |
