Preview

Вопросы современной педиатрии

Расширенный поиск

Генетические факторы, ассоциированные с ходьбой на носках у детей

https://doi.org/10.15690/vsp.v19i2.2108

Полный текст:

Аннотация

В статье представлено описание генетических факторов, ассоциированных с ходьбой на носках у детей. Описанаассоциацияпатологическойпоходкисвариантамигенов PMP22 (peripheral myelin protein 22), EGR2 (early growth response protein 2), AIFM1 (apoptosis inducing factor mitochondria associated 1), MORC2 (member of the Microrchidia family CW-type zinc finger 2), DHTKD1 (dehydrogenase E1 and transketolase domain containing 1), GDAP1 (ganglioside induced differentiation associated protein 1), KIF1B (kinesin family member 1B), FGD4 (FYVE, RhoGEF and PH domain containing 4), SBF2 (SET binding factor 2), SH3TC2 (SH3 domain and tetratricopeptide repeats 2), NAGLU (N-acetyl-alpha-glucosaminidase), NEFL (neurofilament light) и PRX (periaxin). Генетическое тестирование пациентов с ходьбой на носках в дополнение к клиническому обследованию необходимо для более точной диагностики патологии.

Об авторах

Д. Помарино
Praxis Pomarino
Германия
Гамбург.


А. Трен
Praxis Pomarino
Германия
Гамбург.


С. Мориго
Praxis Pomarino
Германия
Гамбург.


Дж. Р. Трен
Praxis Pomarino
Германия
Гамбург.


А. А. Емелина
Самарский государственный медицинский университет
Россия

Емелина Анна Александровна - кандидат медицинских наук, ассистент кафедры детских болезней СамГМУ.

443099, Самара, ул. Чапаевская, д. 89.

тел.: +7 (846) 959-45-11



Список литературы

1. Pomarino D, Thren A, Morigeau S, Thren J. The genetic causes of toe walking in children. Genet Mol Biol Res. 2018;2:2-9.

2. Williams CM, Michalitsis J, Murphy A, et al. Do external stimuli impact the gait of children with idiopathic toe walking? A study protocol for a within subject randomised control trial. BMJ Open. 2013;3(3): pii e002389. doi: 10.1136/bmjopen-2012-002389.

3. Pomarino D, Klawonn M, Stock S, et al. Stufentherapie des habi-tuellen Zehenspitwenganges. Orthop Praxis. 2010;46:4.

4. Schlough K, Andre K, Owen M, et al. Differentiating between idiopathic toe walking and cerebral palsy: a systematic revie. Pediatr Phys Ther. 2020;32(1):2-10. doi: 10.1097/PEP.0000000000000659.

5. O'Sullivan R, Munir K, Keating L. Idiopathic toe walking-A follow-up survey of gait analysis assessment. Gait Posture. 2019;68: 300-304. doi: 10.1016/j.gaitpost.2018.12.011.

6. Alvarez C, De Vera M, Beauchamp R, et al. Classification of idiopathic toe walking based on gait analysis: development and application of the ITW severity classification. Gait Posture. 2007;26(3):428-435. doi: 10.1016/j.gaitpost.2006.10.011.

7. Radtke K, Karch N, Goede F, et al. Outcomes of noninvasive treated idiopathic toe walkers. Foot Ankle Spec. 2018;12(1):54-61. doi: 10.1177/1938640018766609.

8. Ruzbarsky JJ, Scher D, Dodwell E. Toe walking: causes, epidemiology, assessment, and treatment. Curr Opin Pediatr. 2016;28(1): 40-46. doi: 10.1097/MOP.0000000000000302.

9. Engstrom P, Tedroff K. Idiopathic toe-walking: prevalence and natural history from birth to ten years of age. J Bone Joint Surg Am. 2018;100(8):640-647. doi: 10.2106/JBJS.17.00851.

10. Caselli MA, Rzonca EC, Lue BY. Habitual toe-walking: evaluation and approach to treatment. Clinics in Pediatric Medicine and Surgery. 1988;5(3):547-559.

11. Clark E, Sweeney JK, Yocum A, McCoy SW. Effects of motor control intervention for children with idiopathic toe walking. A 5-case series. Pediatr Phys Ther. 2010;22(4):417-426. doi: 10.1097/PEP.0b013e3181f9d5b8.

12. Hirsch G, Wagner B. The natural history of idiopathic toewalking. A long-term follow-up of fourteen conservatively treated children. Acta Paediatr. 2004;93(2):196-199. doi: 10.1080/08035250310008177.

13. Hall JE, Salter RB, Bhalla SK. Congenital short tendo calcaneus. J Bone Joint Surg Br. 1967;49(4):695-697. doi: 10.1302/0301-620x.49b4.695.

14. Levine MS. Congenital short tendo calcaneus: report of a family. Am J Dis Child. 1973;125(6):858-859. doi: 10.1001/arch-pedi.1973.04160060062014.

15. Katz MM, Mubarak SJ. Hereditary tendo Achilles contractures. J Pediatr Orthop. 1984;4(6):711-714. doi: 10.1097/01241398198411000-00011.

16. Stricker SJ, Angulo JC. Idiopathic toe walking: a comparison of treatment methods. J Pediatr Orthop. 1998;18(3):289-293. doi: 10.1097/01241398-199805000-00003.

17. Sobel E, Caselli MA, Velez Z. Effect of persistent toe walking on ankle equines. Analysis of 60 idiopathic toe walkers. J Am Podiat Med Assoc. 1997;87(1):17-22. doi: 10.7547/87507315-87-1-17.

18. Hirsch G, Wagner B. The natural history of idiopathic toe walking: a long-term follow up of fourteen conservatively treated children. Acta Paediatr. 2004;93(2):196-199. doi: 10.1080/08035250310008177.

19. Pomarino D, Veelken N, Martin S. The habitual tiptoe: diagnosis, classification, therapy. Stuttgard: Schattauer; 2016.

20. Fresard L, Montgomery SB. Diagnosing rare diseases after the exome. Cold Spring Harb Mol Case Stud. 2018;4(6): a003392. doi: 10.1101/mcs.a003392.

21. Pomarino D, Ramirez Llamas J, Pomarino A. Idiopathic toe walking- family predisposition and gender distribution. Foot Ankle Spec. 2016;9(5):417-422. doi: 10.1177/1938640016656780.

22. Baets J, Deconinck T, De Vriendt E, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain. 2011;134(Pt 9):2664-2676. doi: 10.1093/brain/awr184.

23. Bird TD. Charcot-Marie-Tooth (CMT) hereditary neuropathy overview. Washington: University of Washington; 1998.

24. Parman Y, Battaloglu E, Bans I, et al. Clinicopathological and genetic study of early-onset demyelinating neuropathy. Brain. 2004;127(Pt 11):2540-2550. doi: 10.1093/brain/awh275.

25. Kettwig M, Schubach M, Zimmermann FA, et al. From ven-triculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1. Mitochondrien. 2015;21: 12-18. doi: 10.1016/j.mito.2015.01.001.

26. Sevilla T, Sivera R, MartnezRubio D, et al. The EGR2 gee is involved in axonal charcot-marie-tooth disease. Eur J Neurol. 2015;22(12):1548-1555. doi: 10.1111/ene.12782.

27. Shiga K, Noto Y, Mizuta I, et al. A novel EGR2 mutation within a family with mild demyelinating form of Charcot- Marie- Tooth disease. J Peripher Nerv Syst. 2012;17(2):206-209. doi: 10.1111/j.1529-8027.2012.00403.x.

28. Kovach MJ, Lin JP, Boyadjiev S, et al. A unique point mutation in the PMP22 gene is asscoiated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet. 1999;64(6):1580-1593. doi: 10.1086/302420.

29. Sancho P, Bartesaghi L, Miossec O, et al. Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations. Hum Mol Genet. 2019;28(10):1629-1644. doi: 10.1093/hmg/ddz006.

30. Loennqvist T, Pihko H. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness. Neuromuscul Disord. 2003;13(10):827-829. doi: 10.1016/s0960-8966(03)00134-2.

31. Pisciotta C, Manganelli F, Lodice F, et al. A novel GDAP1 mutation in autosomal dominant Charcot-Marie-Tooth disease. Clin Neurophysiol. 2015;122:74-75. doi: 10.1016/S1388-2457(11)60254-X.

32. Sivera R, Espinos C, Vilchez JJ, et al. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2010;15(4):334-344. doi: 10.1111/j.1529-8027.2010.00286.x.

33. Zis P, Reilly MM , Rao DG, et al. A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2017;22(3):224-225. doi: 10.1111/jns.12222.

34. Lassuthova P, Vill K, Erdem-Ozdamar S, et al. Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2. Clin Genet. 2018;94(5):467-472. doi: 10.1111/cge.13417.

35. Yum SW, Zhang J, Katie MO, et al. A novel recessive NEFL mutation causes a severe, early-onset axonal neuropathy. Ann Neurol. 2009;66(6):759-770. doi: 10.1002/ana.21728.

36. Luigetti M, Padua L, Coraci D, et al. Nerve ultrasound in CMT2E/ CMT1F due to NEFL Mutation: Confirmation of an axonal pathology. Clin Neurophysiol. 2016;127(9):2990-2991. doi: 10.1016/j.clinph.2016.06.024.

37. Caserta A, Morgan P, Williams C. Identifying methods for quantifying lower limb changes in children with idiopathic toe walking: a systematic review. Gait Posture. 2019;67:181-186. doi: 10.1016/j.gaitpost.2018.10.007.

38. Davies K, Black A, Hunt M, Holsti L. Long-term gait outcomes following conservative management of idiopathic toe walking. Gait Posture. 2018;62:214-219. doi: 10.1016/j.gaitpost.2018.02.014.


Для цитирования:


Помарино Д., Трен А., Мориго С., Трен Д.Р., Емелина А.А. Генетические факторы, ассоциированные с ходьбой на носках у детей. Вопросы современной педиатрии. 2020;19(2):146-149. https://doi.org/10.15690/vsp.v19i2.2108

For citation:


Pomarino D., Thren A., Morigeau S., Thren J.R., Emelina A.A. Genetic Factors Associated with Toe Walking in Children. Current Pediatrics. 2020;19(2):146-149. (In Russ.) https://doi.org/10.15690/vsp.v19i2.2108

Просмотров: 217


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 1682-5527 (Print)
ISSN 1682-5535 (Online)