| MRAZ, Martin, Olha HURBA, Josef BARTL, Zdeněk DOLEŽEL, Anthony MARINAKI, Lynette FAIRBANKS a Blanka STIBURKOVA. Modern diagnostic approach to hereditary xanthinuria. Urolithiasis. New York: Springer, 2015, roč. 43, č. 1, s. 61-67. ISSN 2194-7228. Dostupné z: https://dx.doi.org/10.1007/s00240-014-0734-4. |
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@article{1230589,
author = {Mraz, Martin and Hurba, Olha and Bartl, Josef and Doležel, Zdeněk and Marinaki, Anthony and Fairbanks, Lynette and Stiburkova, Blanka},
article_location = {New York},
article_number = {1},
doi = {http://dx.doi.org/10.1007/s00240-014-0734-4},
keywords = {Hereditary xanthinuria; Allopurinol loading test; Intestinal biopsy; Liver biopsy; Urinary metabolomics; Molecular genetics},
language = {eng},
issn = {2194-7228},
journal = {Urolithiasis},
title = {Modern diagnostic approach to hereditary xanthinuria},
volume = {43},
year = {2015}
}
TY - JOUR
ID - 1230589
AU - Mraz, Martin - Hurba, Olha - Bartl, Josef - Doležel, Zdeněk - Marinaki, Anthony - Fairbanks, Lynette - Stiburkova, Blanka
PY - 2015
TI - Modern diagnostic approach to hereditary xanthinuria
JF - Urolithiasis
VL - 43
IS - 1
SP - 61-67
EP - 61-67
PB - Springer
SN - 21947228
KW - Hereditary xanthinuria
KW - Allopurinol loading test
KW - Intestinal biopsy
KW - Liver biopsy
KW - Urinary metabolomics
KW - Molecular genetics
N2 - Hereditary xanthinuria (HX) is a rare inherited disorder caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO). Missing XDH/XO activity leads to undetectable levels of uric acid excessively replaced by xanthine in serum/urine. The allopurinol loading test has been traditionally used to differentiate between HX types I and II. Final confirmation of HX has been based on the biopsy finding of the absent XDH/XO activity in the small intestine or liver. We present the clinical, biochemical, ultrasound and molecular genetics findings in three new patients with HX and suggest a simple three-step approach to be used for diagnosis, typing and confirmation of HX. In the first step, the diagnosis of HX is determined by extremely low serum/urinary uric acid excessively replaced by xanthine. Second, HX is typed using urinary metabolomics. Finally, the results are confirmed by molecular genetics. We advocate for this safe and non-invasive diagnostic algorithm instead of the traditional allopurinol loading test and intestinal or liver biopsy used in the past.
ER -
MRAZ, Martin, Olha HURBA, Josef BARTL, Zdeněk DOLEŽEL, Anthony MARINAKI, Lynette FAIRBANKS a Blanka STIBURKOVA. Modern diagnostic approach to hereditary xanthinuria. \textit{Urolithiasis}. New York: Springer, 2015, roč.~43, č.~1, s.~61-67. ISSN~2194-7228. Dostupné z: https://dx.doi.org/10.1007/s00240-014-0734-4.
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