Primary hyperoxaluriatype 1: description of the clinical case
- 作者: Safonova M.P1, Dlin V.V1, Potrokhova E.A1, Baleva L.S1
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隶属关系:
- SABU FSBEI HE RNSMU n.a. N.I. Pirogov of RMH "Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev"
- 期: 编号 4 (2017)
- 页面: 61-65
- 栏目: Articles
- URL: https://journals.eco-vector.com/2075-3594/article/view/272714
- ID: 272714
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作者简介
M. Safonova
SABU FSBEI HE RNSMU n.a. N.I. Pirogov of RMH "Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev"
Email: marinasafonova7@mail.ru
PhD in Medical Sciences, Leading Researcher at the Department of Radiation Ecopathology of Childhood
V. Dlin
SABU FSBEI HE RNSMU n.a. N.I. Pirogov of RMH "Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev"
Email: vvdlin@mail.ru
Doctor of Medical Sciences, Professor, Acting Director
E. Potrokhova
SABU FSBEI HE RNSMU n.a. N.I. Pirogov of RMH "Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev"
Email: potroshova@mail.ru
Doctor of Medical Sciences, Professor, Leading Researcher at the Department of Radiation Ecopathology of Childhood
L. Baleva
SABU FSBEI HE RNSMU n.a. N.I. Pirogov of RMH "Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev"
Email: baleva@pedklinl.ru
Doctor of Medical Sciences, Professor, Head of the Children's Scientific and Practical Center for Radiation Protection
参考
- Cochat P., Deloraine A., Rolity M., Olive F., Liponski I., Deries N. Epidemiology of primary hyperoxaluria type 1. Nephrol. Dial. Transplant. 1995; 10(8): 3-7.
- Van der Hoeven S.M., van Woerden C.S., Groothoff J.W. Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of endstage renal disease in adults: results of the Dutch cohort. Nephrol. Dial. Transplant. 2012; 27(10): 3855-62. doi: 10.1093/ndt/gfs320.
- Длин В.В., Османов И.М., Юрьева Э.А., Новиков П.В. Дизметаболическая нефропатия, мочекаменная болезнь и нефрокальциноз у детей. М., 2009; 134-137.
- Bollee G., Cochat P., Daudon M. Recurrence of crystalline nephropathy after kidney transplantation in aprt deficiency and primary hyperoxaluria. Canadian J. of Kidney Health and Disease. 2015; 2: 31.
- Hoppe B. An update on primary hyperoxaluria. Nat. Rev. Nephrol. 2012; 8(8): 467-75. doi: 10.1038/nrneph.2012.113.
- Lieske J.C., Monico C.G., Holmes W.S., Bergstralh E.J., Slezak J.M., Rohlinger A.L., Olson J.B., Milliner D.S. International registry for primary hyperoxaluria. Am. J. Nephrol. 2005; 25(3): 290-6. doi: 10.1159/000086360.
- Monico C.G., Rossetti S., Olson J.B., Milliner D.S. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int. 2005; 67: 1704-1709.
- Coward R. Epidemiology of paediatric renal stone disease in the UK. Arch. Dis. Child. 2003; 88: 962-965.
- Edvardsson V., Palsson R., Olafsson I., Hjaltadottir G., Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am. J. Kidney Dis. 2001; 38(3): 473-80. doi: 10.1053/ajkd.2001.26826.
- Harambat J., Fargue S., Acquaviva C., Gagnadoux M.F., Janssen F., Liutkus A., Mourani C., Macher M.A., Abramowicz D, Legendre C., Durrbach A., Tsimaratos M., Nivet H., Girardin E., Schott A.M., Rolland M.O., Cochat P. Genotype-phenotype correlation in primary hyperoxaluria type 1: The p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010; 77: 443-449.
- Cochat P., Rumsby G. Primary hyperoxaluria. N. Engl. J. Med. 2013; 369(7): 649-58. doi: 10.1056/NEJMra1301564.
- Игнатова М.С., Вельтищев Ю.Е. Детская нефрология. Руководство для врачей. Л., 1989.
- Bollee G., Dollinger C., Boutaud L., Guillemot D., Bensman A., Harambat J., Deteix P., Daudon M., Knebelmann B., Ceballos-Picot I. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J. Am. Soc. Nephrol. 2010; 21(4): 679-88. doi: 10.1681/ASN.2009080808.
- Weerakkody R.M. Primary hyperoxaluria type I importance of pretransplant genetic screening/ Saudi J Kidney Dis Transpl. 2016 Nov-Dec;27(6):1283-1284.
- Williams E.L., Acquaviva C., Amoroso A., et al., Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene, Hum. Mutat. 30; (2009). 910e917.
- Lorenz E.C., Lieske J.C., Seide B.M., Meek A.M., Olson J.B., Bergstralh E.J., Milliner D.S. Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant, Am. J. Transpl. 14;(2014). 1433e1438.