Phenylketonuria in children: modern aspects of pathogenesis, clinic, treatment
https://doi.org/10.21508/1027-4065-2017-62-5-111-118
Abstract
The article discusses modern information about phenylketonuria in children. Standard classification of hyperphenylalaninemia is given. The etiopathogenetic aspects of the disease are examined in detail, with an emphasis on the causes of severe brain damage in the absence of treatment. The features of the state of health of children with phenylketonuria on the background of diet therapy are reflected, as well as modern approaches to diagnosis and differential diagnosis, treatment of phenylketonuria and dispensary observation of patients.
About the Authors
S. Ja. VolginaRussian Federation
S. Sh. Yafarova
Russian Federation
G. R. Kletenkova
Russian Federation
References
1. Ho G., Christodoulou J. Phenylketonuria: translating research into novel therapies. Transl Pediatr 2014; 3 (2): 49-62. DOI: 10.3978/j.issn.2224-4336.2014.01.01.
2. Доступность медицинской помощи и лекарственного обеспечения больных с редкими заболеваниями в Российской Федерации: реалии и пути решения проблем» (результаты медико-экономического исследования за период 2013–2015). Центр изучения и анализа проблем народонаселения, демографии и здравоохранения Института ЕАЭС. М., 2016; 146. [The availability of medical care and drug supply patients with rare diseases in the Russian Federation: challenges and ways of solving problems (results of medico-economic studies for the period 2013–2015). The center for the study and analysis of population, demography and health Institute of the EEU. Moscow, 2016; 146 (in Russ)]
3. http://www.biopku.org/home/pah.asp (accessed 16 June 2017)
4. Blau N. Genetics of Phenylketonuria: Then and Now. Hum Mutat 2016; 37: (6): 508-515. DOI: 10.1002/humu.22980
5. Vockley J., Andersson H.C., Antshel K.M., Braverman N.E., Burton B.K., Frazier D.M. et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med 2014; 16: 188–200. DOI: 10.1038/gim.2013.157
6. Baturina O.A., Morozov I.V. Comparative Analysis of Phenylalanine Hydroxylase Mutations Spectrum in Novosibirsk and Kemerovo regions of Western Siberia, Russia. Eur J Medicine 2016; 11: (1): 4–11.
7. Амелина М.А., Зинченко Р.А., Степанова А.А., Гундорова П., Поляков А.В., Амелина С.С. Изучение взаимосвязи генотипов (РАН) и фенотипов у больных фенилкетонурией Ростовской области. Медицинская генетика 2016; 6: 3–10. [Amelina M.A., Zinchenko R.A., Stepanova A.A., Gundorova P., Polyakov A.V., Amelina S.S. Examine the relationship genotypes ( PAH) and phenotype in patients with phenylketonuria Rostov region. Meditsinskaya genetika 2016; 6: 3–10. (in Russ)]
8. Абрамов Д.Д., Кадочникова В.В., Якимова Е.Г., Белоусова М.В., Маерле А.В., Сергеев И.В. и др. Высокая частота носительства в российской популяции мутаций гена CFTR, ассоциированных с муковисцидозом, и мутаций гена PAH, ассоциированных с фенилкетонурией. Вестник РГМУ 2015; 4: 32–35. [Abramov D.D., Kadochnikova V.V., Jakimova E.G., Belousova M.V., Maerle A.V., Sergeev I.V. et al. High carrier frequency of CFTR gene mutations associated with cystic fibrosis, and PAH gene mutations associated with phenylketonuria in Russian population. Vestnik RGMU 2015; 4: 32–35. (in Russ)]
9. Schuck P.F., Malgarin F., Cararo J.H., Cardoso F., Streck E.L., Ferreira G.C. Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations. Aging and Disease 2015; 6 (5): 390–399. DOI: 10.14336/AD.2015.0827
10. Camp K.M., Parisi M.A., Acosta P.B., Berry G.T., Bilder D.A., Blau N. et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab 2014; 112 (2): 87–122. DOI: 10.1016/j.ymgme.2014.02.013
11. Бушуева Т.В., Боровик Т.Э., Ладодо К.С., Кузенкова Л.М., Маслова О.И., Геворкян А.К. Оценка физического развития у детей с классической фенилкетонурией. Вопр пит 2015; 84 (2): 34–43. [Bushueva T.V., Borovik T.E., Ladodo K.S., Kuzenkova L.M., Maslova O.I., Gevorkyan A.K. Evaluation of physical development in children with classical phenylketonuria. Vopr pit 2015; 84 (2): 34–43. ( in Russ)]
12. Coakley K.E., Felner E.I., Tangpricha V., Wilson P.W., Singh R.H. Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency. JIMD Rep 2017. DOI: 10.1007/8904_2016_39
13. Бушуева Т.В., Винярская И.В., Черников В.В., Боровик Т.Э., Кузенкова Л.М. Оценка качества жизни детей, больных фенилкетонурией. Вестник Российской академии медицинских наук 2014; 11–12: 39–45. [Bushueva T.V., Vinyarskaya I.V., Chernikov V.V., Borovik T.E., Kuzenkova L.M. Assessment of the Life Quality in Children with Phenylketonuria. Vestnik Rossiiskoi Akademii Meditsinskikh Nauk 2014; 11–12: 39–45. (in Russ)]
14. Фенилкетонурия и нарушения обмена тетрагидробиоптерина. Клинические рекомендации. М 2016; 45. [Phenylketonuria and disorders of tetrahydrobiopterin metabolism. Clinical guidelines. Moscow, 2016; 45. (in Russ)] http://www.pediatr-russia.ru/news/recomend (accessed 16 June 2017).
15. van Spronsen F.J., A.M.J. van Wegberg, Ahring K., Bélanger-Quintana A., Blau N., Bosch A.M. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes & Endocrinol 2017; 1–14. http://dx.DOI.org/10.1016/S2213-8587(16)30320-5 (accessed 16 June 2017).
16. Николаева Е.А., Яблонская М.И., Харабадзе М.Н., Давыдова Ю.И., Комарова О.Н., Новиков П.В. Диагностика и лечение биоптериндефицитной гиперфенилаланинемии. Рос вестн перинатол и пед 2015; 60 (2): 66–71. [Nikolaeva E.A., Jablonskaya M.I., Kharabadze M.N., Davydova J.I., Komarova O.N., Novikov P.V. Biopterin-deficient hyperphenylalaninemia: Diagnosis and treatment. Ros Vestn Perinatol Ped 2015; 60 (2): 66– 71. (in Russ)]
Review
For citations:
Volgina S.J., Yafarova S.Sh., Kletenkova G.R. Phenylketonuria in children: modern aspects of pathogenesis, clinic, treatment. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2017;62(5):111-118. (In Russ.) https://doi.org/10.21508/1027-4065-2017-62-5-111-118