Modern diagnostic approach to hereditary xanthinuria

J 2015

Modern diagnostic approach to hereditary xanthinuria

MRAZ, Martin, Olha HURBA, Josef BARTL, Zdeněk DOLEŽEL, Anthony MARINAKI et. al.

Základní údaje

Originální název

Modern diagnostic approach to hereditary xanthinuria

Autoři

MRAZ, Martin (826 Velká Británie a Severní Irsko), Olha HURBA (203 Česká republika), Josef BARTL (203 Česká republika), Zdeněk DOLEŽEL (203 Česká republika, garant, domácí), Anthony MARINAKI (826 Velká Británie a Severní Irsko), Lynette FAIRBANKS (826 Velká Británie a Severní Irsko) a Blanka STIBURKOVA (203 Česká republika)

Vydání

Urolithiasis, New York, Springer, 2015, 2194-7228

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.454

Kód RIV

RIV/00216224:14110/15:00082534

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1007/s00240-014-0734-4

UT WoS

000347840200010

Klíčová slova anglicky

Hereditary xanthinuria; Allopurinol loading test; Intestinal biopsy; Liver biopsy; Urinary metabolomics; Molecular genetics

Štítky

EL OK

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 16. 3. 2015 11:54, Ing. Mgr. Věra Pospíšilíková

Anotace

V originále

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.

Citovat

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.

@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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