Проблеми неонатального скринінгу на вроджену гіперплазію кори надниркових залоз
DOI:
https://doi.org/10.24026/1818-1384.2(43).2013.77677Ключові слова:
congenital adrenal hyperplasia, neonatal screening, 17-OHP, preterm, term infantsАнотація
The article presents a review of literature for the last 35 years about the problems of diagnostic and treatment of various forms of adrenal dysfunction in preterm and term infants before and with the beginning of neonatal screening on congenital adrenal hyperplasia (CAH). The factors affecting the main diagnostic marker of CAH 17-hydroxyprogesterone (17-OHP) are presented. The reasons that lead to false-positive and false-negative indicators 17-OPH during the screening of newborns and in early childhood are analyzed. The ways of improving the predictive value and sensitivity of the neonatal screening of CAH are reported.
Посилання
Ипатова О. Е. Неонатальный скрининг на адреногенитальный синдром в Архангельской области: клинико-лабораторная интерпретация результатов: Автореф. дис. канд. мед. наук: спец. 14.00.09. – Арх., 2009. – 23 с.
Карева М. А., Орлова Е. М. Адреногенитальный синдром: прошлое, настоящее, будущее // Проблемы эндокринологии. – 2011. – №1. – С. 66-70. https://doi.org/10.14341/probl201157166-70
Карева М. А. Эпидемиология и молекулярная генетика дефицита 21-гидрокселазы у детей: Автореф. дис. канд. мед. наук.: спец. 14.00.03. – М., 2004. – 19 с.
Наказ МОЗ № 221 від 29.03.2012 "Про затвердження тимчасового порядку проведення скринінгу новонароджених на адреногенітальний синдром та муковісцидоз і оцінки його результатів" / доступно на сайті: http://www.moz.gov.ua
Новая эра в диагностике и лечении врожденной дисфункции коры надпочечников // Сборник тезисов Всероссийской конференции педиатров-эндокринологив "Достижения эндокринологии - здоровью детей". – М., 2011. – 48 с.
Орлова Е. М., Карева М. А. Первичная надпочечная недостаточность у детей: клинические варианты, диагностика, лечение // Пособие для врачей. - М., 2008. - 51 с.
Передчасні пологи. Клінічний протокол з акушерської допомоги. Додаток до Наказу МОЗ від 08.11.2008 р. №624 / доступно на сайті: http://medstandart.net/browse/3027
Протоколи надання медичної допомоги дітям за спеціальністю "Дитяча ендокринологія". - Київ, 2006. - 94 с.
Пятеркова В. А., Семичева Т. В., Тюльпаков А. Н., Карева М. А. Адрено-генитальный синдром у детей. Неонатальный скрининг, диагностика и лечение. Пособие для врачей. - М., 2006. - 21 с.
Уроджена дисфункція кори надниркових залоз: Метод. рекомендації / НДІ ендокринології та обміну речовин ім. В. П. Комісаренко АМН України. - К.,2010. – 31 с.
Allan D.B., Hoffman G.L., Fitzpatrick P., Laessig R. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels // J. Pediatr. – 1997. – Vol. 130. – P. 128-133. https://doi.org/10.1016/s0022-3476(97)70321-4
Auchus R.J., Miller W.L. Congenital Adrenal Hyperplasia – More Dogma Bites the Dust // J. Clin Endocrinol Metab. – 2012. – Vol. 97, №3. – P. 772-775. https://doi.org/10.1210/jc.2012-1080
Bartter F.C., Forbes A.P., Leaf A. Congenital adrenal hyperplasia associated with the adrenogenital syndrome: an attempt to correct its disordered hormonal pattern // J. Clin. Inv. – 1950. – Vol. 29, №6. – P. 797.
Berry J., Betts P., Wood P.J. The interpretation of bloodspot 17-alpha-hydroxyprogesterone levels in term and pre-term neonates // Ann. Clin. Biochem. – 1986. – Vol. 23. – P. 546-551. https://doi.org/10.1177/000456328602300510
Biglieri E.G., Herron M.A., Brust N. 17-Hydroxylation deficiency in man // J. Clin. Inv. – 1966. – Vol. 45, №12. – P. 1946-1954. https://doi.org/10.1172/jci105499
Bolt R. J., Weissenbruch M. M.,Popp-Snijders C. Fetal Growth and the Function of the Adrenal Cortex in Preterm Infants // J. Clin. Endocrinol. Metab. – 2002. – Vol. 87, №3. – P. 1194-1199. https://doi.org/10.1210/jcem.87.3.8295
Bongiovanni A.M., Eberlein W.R. Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia // J. Biol. Chem. – 1956. – Vol. 223. – №1. – P. 85-94.
Bongiovanni A.M., Root A.W. The adrenogenital syndrome // N. Engl. J. Med. – 1963. – 268:1283-1289. https://doi.org/10.1056/NEJM196306062682308
Bongiovanni A.M., Root A.W. The adrenogenital syndrome // N. Engl. J. Med. – 1963. – 268:1342-1351. https://doi.org/10.1056/NEJM196306132682406
Bongiovanni A.M., Root A.W. The adrenogenital syndrome // N. Engl. J. Med. – 1963. – 268:1391-1399. https://doi.org/10.1056/NEJM196306202682505
Bongiovanni A.M. The adrenogenital syndrome with deficiency of 3-beta-hydroxysteroid dehydrogenase // J. Clin. Inv. – 1962. – Vol. 41. – P. 2086-2092. https://doi.org/10.1172/jci104666
Cavarzere P., Samara-Boustani D., Flechtner I. Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia // Eur. J. Endocrinol. – 2009. – Vol. 161. – P. 285-292. https://doi.org/10.1530/eje-09-0145
Congenital adrenal hyperplasia due to steroid 21- hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline // J. Clin. Endocrinol. Metab. – 2010. – Vol. 95, Suppl. 9. – P. 4133-4160. https://doi.org/10.1210/jc.2009-2631
Dolzan V., Solyom J., Fekete G. Mutational spectrum of steroid 21-hydroxylase and the genotype- phenotype association in Middle European patients with congenital adrenal hyperplasia // Eur. J. Endocrinol. – 2005. – Vol. 153. – P. 99-106. https://doi.org/10.1530/eje.1.01944
Finkielstain Gabriela P., Chen Wuyan, Mehta Sneha P. Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency // J. Clin Endocrinol Metab. – 2011. – Vol. 96, №1. – P.161-172. https://doi.org/10.1210/jc.2010-0319
Gallais A. Le syndrome genitosurrenal, etude anatomo-clinique. – Paris, 1912. – 224 p.
Houk Christopher P., Lee Peter A. Approach to Assigning Gender in 46,XX Congenital Adrenal Hyperplasia with Male External Genitalia: Replacing Dogmatism with Pragmatism // J. Clin. Endocrinol. Metab. – 2010. – Vol. 95, №10. – P. 4501-4508. https://doi.org/10.1210/jc.2010-0714
Hughes A., Riad-Fahmy D., Griffiths K. Plasma 170H-progesterone concentrations in newborn infants // Arch. Dis. Child. – 1979. – Vol. 54. – P. 347-349. https://doi.org/10.1136/adc.54.5.347
Huysman M.W., Hokken-Koelega A.C., De Ridder M.A., Sauer PJ. Adrenal function in sick very preterm infants // Pediatr. Res. – 2000. – Vol. 48, №5. – P. 629-633. https://doi.org/10.1203/00006450-200011000-00013
Janzen N., Peter M., Sander S. Newborn Screening for Congenital Adrenal Hyperplasia: Additional Steroid Profile using Liquid Chromatography-Tandem Mass Spectrometry // J. Clin. Endocrinol. Metab. – 2007. – Vol. 92, №7. – P. 2581-2589. https://doi.org/10.1210/jc.2006-2890
Kagimoto M., Winter J.S., Kagimoto K. et al. Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha- hydroxylase / 17,20 lyase deficiency // Mol. Endocrinol. – 1988. – Vol. 2, №6. – P. 564-570. https://doi.org/10.1210/mend-2-6-564
Kulle A.E., Riepe F.G., Melchior D., Hiort O., Holterhus P.M. A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatric Blood Samples: Age- and Sex-Specific Reference Data // J. Clin. Endocrinol. Metab. – 2010. – Vol. 95, №5. – P. 2399-2409. https://doi.org/10.1210/jc.2009-1670
Lee Ji Eun, Yeonsook Moon, Moon Hee Lee. Corrected 17-Alpha-Hydroxyprogesterone Values Adjusted by a Scoring System for Screening Congenital Adrenal Hyperplasia in Premature Infants // Ann. Clin. Lab. Sci. – 2008. – Vol. 38, №3. – P. 235-240.
Luczay A., Torok D., Ferenczi A. Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency // Eur. J. Endocrinol. – 2006. – Vol. 154. – P. 859-864. https://doi.org/10.1530/eje.1.02162
Ohkubo S., Shimozawa K., Matsumoto M., Kitagawa T. Analysis of blood spot 17-alpha-hydroxyprogesterone concentration in premature infants: proposal for cut-off limits in screening for congenital adrenal hyperplasia // Acta Paediatr. Jpn. – 1992. – Vol. 34. – P. 126-133.
Olgremo B. Ller, Roscher A., Liebl B., Fingerhut R. Screening for Congenital Adrenal Hyperplasia: Adjustment of 17-Hydroxyprogesterone Cut-Off Values to Both Age and Birth Weight Markedly Improves the Predictive Value // J. Clin. Endocrinol. Metab. – 2003. – Vol. 88, №12. – P. 5790-5794. https://doi.org/10.1210/jc.2002-021732
Parajes S., Quinteiro C., Dommguez F., Loidi L. High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency // J. PLoS ONE. – 2008 – Vol. 3(5). – P. 2138. https://doi.org/10.1371/journal.pone.0002138
Prader A., Siebenmann R.E. Nebenniereninsuffi zienz bei kongenitaler Lipoidhyperplasie der Nebennieren // Helv. Paediat. Acta. – 1957. – Vol. 12, №6. – P. 569-595.
Ramazani A., Kahrizi K., Razaghiazar M., Mahdieh N., Koppens P. The frequency of eight common point mutatiions in CYP21 gene in Iranian patients with congenital adrenal hyperplasia // Iran biomed. J. – 2008. – Vol. 12, №l. – P. 49-53.
Reynolds R. M., Seckl J. R. Antenatal Glucocorticoid Treatment: Are We Doing Harm to Term Babies? // J. Clin. Endocrinol. Metab. – 2012. – Vol. 97, №10. – P. 3457-3459. https://doi.org/10.1210/jc.2012-3201
Rheaume E., Simard J., Morel Y. et al. Congenital adrenal hyperplasia due to point mutations in the type II 3-beta-hydroxysteroid dehydrogenase gene // Nat. Genet. – 1992. – Vol. 1, №4. – P. 239-245. https://doi.org/10.1038/ng0792-239
Sarafoglou Kyriakie, Banks Kathryn, Gaviglio Amy. Comparison of One-Tier and Two-Tier Newborn Screening Metrics for Congenital Adrenal Hyperplasia // Pediatrics. – 2012. – Vol. 130, №5. – P. 1261-1268. https://doi.org/10.1542/peds.2012-1219
Schreiner F., Brack C., Salzgeber K., Vorhoff W., Woelfle J., Gohlke B. False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia // Eur. J. Pediatr. – 2008. – Vol. 167. – P. 479-481. https://doi.org/10.1007/s00431-007-0505-0
Schreiner F., Tozakidou M., Maslak R. Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns // Eur. J. Endocrinol. – 2009. – Vol. 160, №4. – P. 667-673. https://doi.org/10.1530/eje-08-0639
Shlomit B.D. Zuckerman-Levin N., Epelman M. Parturition Itself Is the Basis for Fetal Adrenal Involution // J. Clin. Endocrinol. Metab. – 2007. – Vol. 92, №1. – P. 93-97. https://doi.org/10.1210/jc.2005-2720
Tegethoff Marion, Pryce Christopher, Meinlschmidt Gunther. Effects of Intrauterine Exposure to Synthetic Glucocorticoids on Fetal, Newborn, and Infant Hypothalamic-Pituitary-Adrenal Axis Function in Humans: A Systematic Review // Endocrine Reviews. – 2009. – Vol. 30, №7. – P. 753-789. https://doi.org/10.1210/er.2008-0014
Votava F., Torok D., Kovacs J., Moslinger D. Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia // Eur. J. Endocrinol. – 2005. – Vol. 152. – P. 869-874. https://doi.org/10.1530/eje.1.01929
White P.C., Chaplin D.D., Weis J.H. et all. Two steroid 21-hydroxylase genes are located in the murine S region // Nature. – 1984. – Vol. 312, №5993. – P. 465-467. https://doi.org/10.1038/312465a0
White P.C., Dupont J., New M.I. et all. A mutation in CYP11B1(arg448-to-his) associated with steroid 11-beta-hydroxylase deficiency in Jews of Moroccan origin // J. Clin. Inv. – 1991. – Vol. 87, №5. – P. 1664-1667. https://doi.org/10.1172/jci115182
Wilkins L. Adrenogenital syndrome due to enzymatic defects in cortisol synthesis // Am. J. Clin. Nutr. – 1961. – № 9. – P. 661-668.
Wilson Thomas A., Kemp Stephen. Congenital Adrenal Hyperplasia /http://emedicine.medscape.com/article/919218-overview#a0199
Wong T., Shackleton CHL., Covey TR., Ellis G. Identification of the steroids in neonatal plasma that interfere with 17-hydroxyprogesterone Radioimmunoassay // Clin. Chem. – 1992 – Vol. 38. – P. 1830-1837.
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