O.I. PIKUZA, E.A. SAMORODNOVA, E.V. VOLYANYUK

Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan

 Contact details:

Pikuza O.I. — MD, Professor of the Department of Propaedeutics of Children’s Diseases and Faculty Pediatrics

Address: 49 Butlerov Str., Kazan, Russian Federation, 420012, tel.: +7-917-390-11-12, e-mail: pdb-fp@yandex.ru

The purpose — to present the information on monogenic hereditary lung diseases, characterized by chronic course in children and cause significant difficulties when making a differential diagnosis.

Material and methods. Analysis of literature data on chronic non-specific lung diseases in children, features of clinical course, approaches to diagnosing with emphasis on hereditary forms of disease.

Results. The article presents general information on grouping the chronic respiratory pathologies in children, specific clinical symptoms, and describes in more detail the hereditary lung diseases which can be faced in pediatric practice.

Conclusion. Today, to diagnose a chronic non-specific lung disease in children, including of hereditary character, a pediatrician must have information on a broad range of nosologies and be attentive to every detail of anamnesis, clinical picture and laboratory data, as these determine the treatment efficiency and prognosis of a patient’s life.

Key words: children, pulmonology, hereditary lung diseases.

(For citation: Pikuza O.I., Samorodnova E.A., Volyanyuk E.V.  Difficult case of a pediatric patient: hereditary lung diseases. Practical Medicine. 2019. Vol. 17, № 5, P. 145-151) 

REFERENCES

1. Tatochenko V.K. Bolezni organov dykhaniya u detey: prakticheskoe rukovodstvo [Respiratory diseases in children: a practical guide]. Moscow: “Pediatr”, 2012. 480 p.
2. Redkie zabolevaniya legkikh u detey: klinicheskie nablyudeniya, pod red. Rozinovoy N.N., Mizernitskogo Yu.L. [Rare lung diseases in children: clinical observations, ed. by Rozinova N.N., Misernitsky Yu.L.]. Moscow: OOO “Overley”, 2009. P. 192.
3. Soroka N.D., Mikhaylova O.V., Smirnova N.N. The current state of the problem of chronic nonspecific respiratory diseases in children. Pul’monologiya detskogo vozrasta: problemy i resheniya, 2015, no. 15, pp. 24–25 (in Russ.).
4. Evseeva G.P., Kholodok G.N., Morozova N.V., Suprun E.N., Kozlov V.K., Lazar’ K.G. Epidemiology of bronchopulmonary diseases of children and adolescents of the Khabarovsk Territory. Byulleten’ fiziologii i patologii dykhaniya, 2016, no. 61, pp. 31–35 (in Russ.). doi: 10.12737/21436
5. Khronicheskie zabolevaniya legkikh u detey, pod red. N.N. Rozinovoy i Yu.L. Mizernitskogo [Chronic lung diseases in children. Ed. by N.N. Rozinova and Yu.L. Misernitsky]. Moscow, Praktika, 2011. 224 p.
6. Kozlov V.K., Lebed’ko O.A., Pichugina S.V., Sirotina-Karpova M.S., Evseeva G.P., Gandurov S.G. Actual issues of chronic non-specific lung diseases in children. Byulleten’ fiziologii i patologii dykhaniya, 2018, no. 70, pp. 15–25 (in Russ.). doi: 10.12737/article_5c1261553e3636.04058413
7. Boytsova E.V., Ovsyannikov D.Yu. Diffuse disorders of growth and development of the lungs in children. Pul’monologiya detskogo vozrasta: problemy i resheniya, 2015, no. 15, pp. 25–37 (in Russ.).
8. Klassifikatsiya klinicheskikh form bronkholegochnykh zabolevaniy u detey [Classification of clinical forms of bronchopulmonary diseases in children]. Moscow: Rossiyskoe respiratornoe obshchestvo, 2009. 18 p.
9. Kholodok G.N., Morozova N.V. Modern methods and possibilities of etiological verification of bronchopulmonary diseases in children. Byulleten’ fiziologii i patologii dykhaniya, 2016, no. 60, pp. 125–130 (in Russ.). doi: 10.12737/20136
10. Rosen S., Castleman B. Pulmonary alveolar proteinosis. N Engl J Med, 1958, vol. 258, p. 1123.
11. Wallot M., Wagenvoort C., de Mello D. et al. Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants. Eur J Pediat, 1999, vol. 158, pp. 513–518.
12. Castellana G., Gentile M., Castellana R. et al. Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature. Am. J. Med. Genet, 2002, vol. 111, pp. 220–224.
13. Cort A., Senyigit A., Ugur S.A. et al. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. Am. J. Hum. Genet, 2006, vol. 79, pp. 650–656.
14. Vidal R. et al. Diagnostico y tratamiento del deficit de alfa-1antitripsina Guidelines for the Diagnosis and Management of Alpha-1 Antitrypsin Deficiency. Arch. Bronconeumol, 2006, Dec, vol. 42 (12), pp. 645–659.
15. Rivas J.J., López MF.J., López-Rodó L.M. et al. Guidelines for the diagnosis and treatment of spontaneous pneumothorax/Spanish Society of Pulmonology and Thoracic Surgery. Arch. Bronconeumol, 2008, vol. 44 (8), pp. 437–448.
16. Mel’nik S.I., Pinevskaya M.V., Orlova E.A., Starevskaya S.V., Mel’nikova I.Yu., Larionova V.I. Alpha-1-antitrypsin deficiency in children. Meditsinskiy sovet, 2017, no. 9, pp. 166–170 (in Russ.).