Справка
x
Поиск
Закладки
Озвучить книгу
Изменить режим чтения
Изменить размер шрифта
Оглавление
Для озвучивания и цитирования книги перейдите в режим постраничного просмотра.
Пропионовая ацидемия /ацидурия
Список литературы
Поставить закладку
W. L. Nyhan and G. F. Hoffmann, “Atlas of inherited metabolic diseases; fourth edition,” 2020.
H. A. Haijes, J. J. M. Jans, S. Y. Tas, N. M. Verhoeven‐Duif, and P. M. Hasselt, “Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications,” J Inherit Metab Dis, vol. 42, no. 5, pp. 730–744, Sep. 2019, doi: 10.1002/jimd.12129.
H. A. Haijes, P. M. Hasselt, J. J. M. Jans, and N. M. Verhoeven‐Duif, “Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies,” J Inherit Metab Dis, vol. 42, no. 5, pp. 745–761, Sep. 2019, doi: 10.1002/jimd.12128.
E. Campeau et al., “Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia,” Mol Genet Metab, vol. 74, no. 1–2, pp. 238–247, Sep. 2001, doi: 10.1006/mgme.2001.3210.
P. Wongkittichote, N. Ah Mew, and K. A. Chapman, “Propionyl-CoA carboxylase – A review,” Mol Genet Metab, vol. 122, no. 4, pp. 145–152, Dec. 2017, doi: 10.1016/j.ymgme.2017.10.002.
C. S. Huang, K. Sadre-Bazzaz, Y. Shen, B. Deng, Z. H. Zhou, and L. Tong, “Crystal structure of the α6β6 holoenzyme of propionyl-coenzyme A carboxylase,” Nature, vol. 466, no. 7309, pp. 1001–1005, Aug. 2010, doi: 10.1038/nature09302.
E. Jurecki, K. Ueda, D. Frazier et al. Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach Mol. Genet. and Metab., vol 126, no 4, pp. 341-354, April 2019. doi:10.1016/j.ymgme.2019.02.007.
H.-R. Yoon et al., “Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report,” Clinica Chimica Acta, vol. 354, no. 1–2, pp. 167–180, Apr. 2005, doi: 10.1016/j.cccn.2004.11.032.
M. Alfadhel et al., “Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia,” Orphanet J Rare Dis, vol. 11, no. 1, p. 126, Dec. 2016, doi: 10.1186/s13023-016-0510-3.
L. Pena et al., “Natural history of propionic acidemia,” Mol Genet Metab, vol. 105, no. 1, pp. 5–9, Jan. 2012, doi: 10.1016/j.ymgme.2011.09.022.
O. A. Shchelochkov, N. Carrillo, and C. Venditti, Propionic Acidemia. 1993.
P. Forny et al., “Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision,” J Inherit Metab Dis, vol. 44, no. 3, pp. 566–592, May 2021, doi: 10.1002/jimd.12370.
S. H. Aldubayan, L. H. Rodan, G. T. Berry, and H. L. Levy, “Acute Illness Protocol for Organic Acidemias,” Pediatr Emerg Care, vol. 33, no. 2, pp. 142–146, Feb. 2017, doi: 10.1097/PEC.0000000000001028.
https://cr.minzdrav.gov.ru/schema/681_1.
A. Imbard et al., “Long-term liver disease in methylmalonic and propionic acidemias,” Mol Genet Metab, vol. 123, no. 4, pp. 433–440, Apr. 2018, doi: 10.1016/j.ymgme.2018.01.009.
S. Kölker et al., “The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype,” J Inherit Metab Dis, vol. 38, no. 6, pp. 1059–1074, Nov. 2015, doi: 10.1007/s10545-015-9840-x.
S. C. Grünert et al., “Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients,” Orphanet J Rare Dis, vol. 8, no. 1, p. 6, Dec. 2013, doi: 10.1186/1750-1172-8-6.
W. L. Nyhan, C. Bay, E. W. Beyer, and M. Mazi, “Neurologic Nonmetabolic Presentation of Propionic Acidemia,” Arch Neurol, vol. 56, no. 9, p. 1143, Sep. 1999, doi: 10.1001/archneur.56.9.1143.
S. Scholl-Bürgi et al., “Stroke-Like Episodes in Propionic Acidemia Caused by Central Focal Metabolic Decompensation,” Neuropediatrics, vol. 40, no. 02, pp. 76–81, Apr. 2009, doi: 10.1055/s-0029-1231065.
E. Haberlandt et al., “Epilepsy in Patients with Propionic Acidemia,” Neuropediatrics, vol. 40, no. 03, pp. 120–125, Aug. 2009, doi: 10.1055/s-0029-1243167.
S. Noval, M. López-Rodríguez, E. González-Sánchez, I. Contreras, A. Royo, and A. Boto-De-los-Bueis, “Late Optic Neuropathy in Propionic Acidemia Following Surgical Intervention,” Journal of Neuro-Ophthalmology, vol. 33, no. 1, pp. 90–91, Mar. 2013, doi: 10.1097/WNO.0b013e318273c03b.
S. C. Grünert et al., “Propionic acidemia: neonatal versus selective metabolic screening,” J Inherit Metab Dis, vol. 35, no. 1, pp. 41–49, Jan. 2012, doi: 10.1007/s10545-011-9419-0.
G. Touati et al., “Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture,” J Inherit Metab Dis, vol. 29, no. 2–3, pp. 288–298, Apr. 2006, doi: 10.1007/s10545-006-0351-7.
M. R. Baumgartner et al., “Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia,” Orphanet J Rare Dis, vol. 9, no. 1, p. 130, Dec. 2014, doi: 10.1186/s13023-014-0130-8.
M. Alfadhel et al., “Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial,” Orphanet J Rare Dis, vol. 16, no. 1, p. 422, Dec. 2021, doi: 10.1186/s13023-021-02032-8.
С.В. Михайлова, Е.Ю. Захарова, А.С. Петрухин: Нейрометаболические заболевания у детей и подростков. Диагностика и подходы к лечению. Москва, издательство «Литтерра» 2019, 34-36 с.
E. Kiykim, O. Oguz, C. Duman, T. Zubarioglu, M. S. Cansever, and A. C. A. Zeybek, “Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias,” Mol Genet Metab Rep, vol. 26, p. 100715, Mar. 2021, doi: 10.1016/j.ymgmr.2021.100715.
Баранов А.А., Намазова-Баранова Л.С., Боровик Т.Э., Ладодо К.С., Бушуева Т.В., Маслова О.И., Кузенкова Л.М., Журкова Н.В., Звонкова Н.Г. и др. Диетотерапия при наследственных болезнях аминокислотного обмена Методическое письмо. Москва. 2013. 97 с.
Saudubray J.M., Baumgartner M.R., Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment (6th ed.), Springer, Berlin, Germany (2016) 658p.
EAU Guidelines. Edn. presented at the EAU Annual Congress Amsterdam 2020. ISBN 978-94-92671-07-3. EAU Guidelines Office, Arnhem, The Netherlands. http://uroweb.org/guidelines/compilations-of-all-guidelines/.
P. Forny et al., “Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision,” J Inherit Metab Dis, vol. 44, no. 3, pp. 566–592, May 2021, doi: 10.1002/jimd.12370.
Picca S, Bartuli A, Dionisi-Vici C: Medical management and dialysis therapy for the infant with an inborn error of metabolism. Semin Nephrol 2008, 28:477–480. .
MP 2.3.1.2432-08 ‘Нормы физиологических потребностей в энергии и пищевых веществах для различных групп населения Российской Федерации’ (утв. Главным государственным санитарным врачом РФ 18 декабря 2008 г.).
X. Wu et al., “Acute and sub-acute oral toxicological evaluations and mutagenicity of N-carbamylglutamate (NCG),” Regulatory Toxicology and Pharmacology, vol. 73, no. 1, pp. 296–302, Oct. 2015, doi: 10.1016/j.yrtph.2015.07.009.
M. Nashabat et al., “Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial,” BMC Pediatr, vol. 19, no. 1, p. 195, Dec. 2019, doi: 10.1186/s12887-019-1571-y.
A. Burlina, C. Cazzorla, E. Zanonato, E. Viggiano, I. Fasan, and G. Polo, “Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria,” Mol Genet Metab Rep, vol. 8, pp. 34–40, Sep. 2016, doi: 10.1016/j.ymgmr.2016.06.007.
Chapman K.A., Gramer G., Viall S. et al. Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data Mol. Genet. Metab. Rep., 15 (2018), pp. 106-109.
S. Picca, A. Bartuli, and C. Dionisi-Vici, “Medical Management and Dialysis Therapy for the Infant With an Inborn Error of Metabolism,” Semin Nephrol, vol. 28, no. 5, pp. 477–480, Sep. 2008, doi: 10.1016/j.semnephrol.2008.05.007.
L. E. Bernstein, F. Rohr, and J. R. Helm, Eds., Nutrition Management of Inherited Metabolic Diseases. Cham: Springer International Publishing, 2015. doi: 10.1007/978-3-319-14621-8.
V Reid Sutton, MDSihoun Hahn, MD, PhD Elizabeth TePas, MD, MS Metabolic emergencies in suspected inborn errors of metabolism: Presentation, evaluation, and management last updated: Jun 26, 2020.https://www.uptodate.com/contents/metabolic-emergencies-in-suspected-inborn-errors-of-metabolism-presentation-evaluation-and-managemen.
M. Rafique, “Emerging trends in management of propionic acidemia,” Arquivos Brasileiros de Endocrinologia & Metabologia, vol. 58, no. 3, pp. 237–242, Apr. 2014, doi: 10.1590/0004-2730000002821.
Peter Yorgin, MD, Robert Mak, MD, PhD Approach to the child with metabolic acidosis
P. Forny et al., “Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision,” J Inherit Metab Dis, vol. 44, no. 3, pp. 566–592, May 2021, doi: 10.1002/jimd.12370.
H. A. Haijes, J. J. M. Jans, M. van der Ham, P. M. van Hasselt, and N. M. Verhoeven-Duif, “Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach,” Orphanet J Rare Dis, vol. 15, no. 1, p. 68, Dec. 2020, doi: 10.1186/s13023-020-1347-3.
A. Tummolo et al., “Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report,” J Med Case Rep, vol. 12, no. 1, p. 103, Dec. 2018, doi: 10.1186/s13256-018-1631-1.
UCD GUIDELINE – 1st REVISION 2018 – AWMF https://www.awmf.org/uploads/tx_szleitlinien/027-006l_S3_Diagnostik-Therapie-Harnstoffzyklusstoerungen_2018-06.pdf.
V. R. Sutton et al., “Chronic management and health supervision of individuals with propionic acidemia,” Mol Genet Metab, vol. 105, no. 1, pp. 26–33, Jan. 2012, doi: 10.1016/j.ymgme.2011.08.034.
Arbeiter AK, Kranz B, Wingen AM. et al. Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism. Nephrol Dial Transplant 2010, 25:1257–1265.
K. Oishi, R. Arnon, M. P. Wasserstein, and G. A. Diaz, “Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management,” Pediatr Transplant, vol. 20, no. 6, pp. 756–769, Sep. 2016, doi: 10.1111/petr.12741.
F. Molema et al., “Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data,” J Inherit Metab Dis, vol. 44, no. 3, pp. 593–605, May 2021, doi: 10.1002/jimd.12318.
Приказ Минздрава России от 21 апреля 2022 г. № 274н «Об утверждении Порядка оказания медицинской помощи больным с врожденными и (или) наследственными заболеваниями»
Неонатальный скрининг: национальное руководство / под ред. С.И. Куцева. Москва: ГЭОТАР-Медиа, 2023. — 360 с. — (Серия «Национальные руководства»). — DOI: 10.33029/9704-7737-3-NEO-2023-1-360.
Grünert SC, Müllerleile S, de Silva L, et al. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012;35(1):41-49. doi:10.1007/s10545-011-9419-0
Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T. Systematic literature review and meta-analysis on the epidemiology of propionic acidemia. Orphanet J Rare Dis. 2019;14(1):40. Published 2019 Feb 13. doi:10.1186/s13023-018-0987-z
Zhou GP, Jiang YZ, Wu SS, Kong YY, Sun LY, Zhu ZJ. Liver Transplantation for Propionic Acidemia: Evidence From a Systematic Review and Meta-analysis. Transplantation. 2021;105(10):2272-2282. doi:10.1097/TP.0000000000003501
Guillermo E. Umpierrez, Richard Hellman, Mary T. Korytkowski, Mikhail Kosiborod, Gregory A. Maynard, Victor M. Montori, Jane J. Seley, Greet Van den Berghe, Management of Hyperglycemia in Hospitalized Patients in Non-Critical Care Setting: An Endocrine Society Clinical Practice Guideline, The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 1, 1 January 2012, Pages 16-38, https://doi.org/10.1210/jc.2011-2098
Vanhatalo, T., & Tammela, O. (2010). Glucose infusions into peripheral veins in the management of neonatal hypoglycemia--20% instead of 15%?. Acta paediatrica (Oslo, Norway : 1992), 99(3), 350–353. https://doi.org/10.1111/j.1651-2227.2009.01237.x
Blair, H.A. Carglumic acid in hyperammonaemia due to organic acidurias: a profile of its use in the EU. Drugs Ther Perspect 35, 101–108 (2019). https://doi.org/10.1007/s40267-018-00595-4
Для продолжения работы требуется
Регистрация
Предыдущая страница
Следующая страница
Оглавление
Список сокращений
Термины и определения
Пропионовая ацидемия /ацидурия
+
Список литературы
Приложение А1. Состав рабочей группы по разработке и пересмотру клинических рекомендаций
Приложение А2. Методология разработки клинических рекомендаций
Приложение А3. Справочные материалы, включая соответствие показаний к применению и противопоказаний, способов применения и доз лекарственных препаратов, инструкции по применению лекарственного препарата
+
Приложение Б. Алгоритмы действий врача
Приложение В. Информация для пациента
Приложение Г1-ГN. Шкалы оценки, вопросники и другие оценочные инструменты состояния пациента, приведенные в клинических рекомендациях
Данный блок поддерживает скрол*