Preview

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)

Advanced search

DiGeorge syndrome in the practice of a pediatric pulmonologist

https://doi.org/10.21508/1027-4065-2016-61-5-57-63

Abstract

This specific clinical example of a female patient with DiGeorge syndrome, a primary immunodeficiency disease, demonstrates difficulties in its timely diagnosis and in the choice of treatment policy in this category of patients. Lung injury in them is frequently the only manifestation of the underlying disease. Special attention is given to current diagnostic criteria (including genetic ones) and approaches to treatment and prognosis in patients with DiGeorge syndrome. 

About the Authors

S. E. Dyakova
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation


Yu. L. Mizernitsky
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation


O. V. Shvets
G.N. Speransky Children’s Clinical Hospital Nine, Moscow Healthcare Department
Russian Federation


N. S. Lev
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation


M. V. Kostyuchenko
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation


S. B. Zimin
G.N. Speransky Children’s Clinical Hospital Nine, Moscow Healthcare Department
Russian Federation


References

1. Розинова Н.Н., Мизерницкий Ю.Л. Орфанные заболевания легких у детей. М: ИД «МЕДПРАКТИКА-М», 2015; 240. (Rozinova N.N., Mizernitsky Yu.L. Orphan lung diseases in children. Moscow: ID «MEDPRАKTIKА-M», 2015; 240. (in Russ))

2. Цыпленкова С.Э., Сорокина Е.В., Розинова Н.Н. Поражение легких при иммунодефицитах. В кн.: Редкие заболевания легких у детей. Клинические наблюдения. Под ред. Н.Н. Розиновой, Ю.Л. Мизерницкого. М: ООО «Оверлей» 2009; 135–147. (Tsyplenkova S.Eh., Sorokina E.V., Rozinova N.N. Lung damage in immunodeficiencies. In: Rare diseases of lungs at children. Clinical supervision. N.N. Rozinova, Yu.L. Mizernitsky. Moscow: OOO «Overlej» 2009; 135–147. (in Russ))

3. Розинова Н.Н., Мизерницкий Ю.Л. (ред.) Хронические заболевания легких у детей. М: «Практика» 2011; 224. (Rozinova N.N., Mizernitsky Yu.L. (eds). Chronic lung disease in children. Moscow: «Praktika», 2011; 224. (in Russ))

4. Фадеева М.А., Розинова Н.Н., Вельтищев Ю.Е. Поражения легких при первичных иммунодефицитных состояниях. В кн.: Врожденные и наследственные заболевания легких у детей. Под ред. Ю.Е. Вельтищева, С.Ю. Каганова, В. Таля. М: Медицина, 1986; 189–204. (Fadeeva M.А., Rozinova N.N., Vel’tishhev Yu.E. Lung in primary immunodeficiency. In: Congenital and heritary diseases of lungs at children. Yu.E. Vel’tishhev, S.Yu. Kaganov, V. Tal’ (eds). Moscow: Meditsina, 1986; 189–204. (in Russ))

5. Butts S.C. The facial phenotype of the velo-cardio-facial syn￾drome. Int J Pediatr Otorhinolaryngol 2009; 73: 3: 343–350.

6. Кондратенко И.В. Первичные иммунодефициты. М: ИД «МЕДПРАКТИКА-М» 2005; 189. (Kondratenko I.V. Primary immunodeficiencies. Moscow: ID «MEDPRАKTIKА-M» 2005; 189. (in Russ))

7. Антоненко В.Г. Фенотипические проявления при микроделеции 22q1.2, оценка диагностической значимости микроаномалий развития. Автореф. дисс. … к.м.н. М, 2004; 26. (Аntonenko V.G. The phenotypic manifestations of microdeletions 22q1.2, evaluation of diagnostic value of microanomalies. Avtoref. diss. … k.m.n. Мoscow, 2004; 26. (in Russ))

8. Котлукова Н.П., Левченко Е.Г., Антоненко В.Г. и др. CATCH 22 как этиологический фактор врожденных пороков сердца. Мед генетика 2004; 3: 1: 2–7. (Kotlukova N.P., Levchenko E.G., Аntonenko V.G. et al. CATCH 22 as an etiological factor for congenital heart defects. Med genetika 2004; 3: 1: 2–7. (in Russ))

9. МcDonald-McGinn D.M., Sullivan K.E. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011; 90: 1: 1–18.

10. Швец О.В., Продеус А.П., Щербина А.Ю. Синдром делеции del22q11.2 (Синдром Ди Джорджи): клинические и иммунологические аспекты патологии. Рос иммунол журнал 2011; 5: 14: 2: 101–111. (Shvets O.V., Prodeus А.P., Shcherbina А.Yu. Del22q11.2 deletion syndrome (Syndrome DiGeorge): Clinical and immunological aspects of the dis￾ease. Ros immunol zhurnal 2011; 5: 14: 2: 101–111. (in Russ))

11. Kobrinski L., Sullivan K.E. Velocardiofacial syndrome, Di￾George syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007; 370: 1443–1452.

12. Ryan A., Goodship J., Wilson D. et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798–804.

13. Zhang Z., Cerrato F., Xu H. et al. Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development 2005; 132: 5307–5315.

14. Nowotschin S., Liao J., Cage P. et al. Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development 2006; 133: 1565–1573.

15. Wadey R., McKie D. Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome. Amer J Hum Genet 1999; 65: 247–249.

16. Drisccoll D., Sullivan K. DiGeorge Syndrome: A Cromosome 22q11.2 Deletion Syndrome. In: Primary Immunodeficiency Diseases. H.D. Ochs (ed.). Third Edition, 2013; 485–495.

17. McDonald-McGinn D. M., Kirschner R.E., Goldmuntz E., Sullivan K., Eicher P., Gerdes M. et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns1999; 10: 11–24.

18. Bassett A.S., Marshall C.R., Lionel A.C. et al. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet 2008; 17: 4045–4053.

19. Bale P., Sotelo-Avila C. Maldescent of the thymus: 34 necropsy and 10 surgical cases, including 7 thymuses medial to the mandible. Pediatr Pathol 1993, 13: 181–190.

20. Jawad A., McDonald-McGinn D., ZackaiE., Sullivan K. Immunologic features of chromosome 22q11.2 deletion syndrome. J Pediatr 2001; 139: 715–723.

21. McDonald-McGinn D., Reilly A., Wallgren-Petterson C. Malignancy in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial syndrome). Amer J Med Genet 2006; 140A: 906–909.

22. Ярцев М.Н., Снегова Н.Ф., Чувиров Д.Г., Яковлева К.П. Фармакотерапия первичных иммунодефицитов. В кн.: Руководство по фармакотерапии в педиатрии и детской хирургии. Под ред. А.Д. Царегородцева, В.А. Таболина. М., 1998; 7: 258–290. (Yartsev M.N., Snegova N.F., Chuvi￾rov D.G., Yakovleva K.P. Pharmacotherapy of primary immunodeficiencies. In: The guide to a pharmacotherapy in pediatrics and children’s surgery. А.D. Tsaregorodtsev, V.А. Tabolin (eds). Moscow, 1998; 7: 258–290. (in Russ))

23. Markert M., Sarzotti M., Ozaki D. et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood 2003; 102: 1121–1130.

24. Klaassen P., Duijff S., Swanenburg de Veye H. et al. Behavior in preschool children with the 22q11.2 deletion syndrome. Am J Med Genet A 2013; 161A: 1: 94–101.


Review

For citations:


Dyakova S.E., Mizernitsky Yu.L., Shvets O.V., Lev N.S., Kostyuchenko M.V., Zimin S.B. DiGeorge syndrome in the practice of a pediatric pulmonologist. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2016;61(5):57-63. (In Russ.) https://doi.org/10.21508/1027-4065-2016-61-5-57-63

Views: 1240


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)