Preview

PULMONOLOGIYA

Advanced search

A family case Williams – Campbell syndrome in clinical practice

https://doi.org/10.18093/0869-0189-2023-33-5-713-721

Abstract

Currently, among all pathologies of the respiratory system, bronchiectasis receives special attention. This is due to its increasing incidence and the improvement of diagnostic methods. Williams – Campbell syndrome is a congenital form of bronchiectasis characterized by a defect or complete absence of bronchial wall cartilage in the subsegmental bronchi. In view of this, medical personnel should be familiar with the basics of differential diagnosis and treatment, as well as the prognosis of this disease. The aim of this paper is to present a clinical family case of Williams – Campbell syndrome. The father of the family was diagnosed with WCS at the age of 3 years by bronchography, and his daughter has all clinical signs of this disease today. To date, the question remains as how to diagnose WCS and monitor the patient’s health in the future. Conclusion. Physicians of all specialties should be informed about rare diseases.

About the Authors

E. V. Stezhkina
Ryazan State Medical University named after academician I.P.Pavlov, Ministry of Public Health of the Russian Federation; State budgetary institution of the Ryazan region “City children’s clinic No.7”, Healthcare Ministry of the Ryazan region
Russian Federation

Elena V. Stezhkina, Candidate of Medicine, Associate Professor, Department of Faculty and Polyclinic Pediatrics with the Course of Pediatrics, Ryazan State Medical University named after academician I.P.Pavlov, Ministry of Public Health of the Russian Federation; allergist-pulmonologist, State budgetary institution of the Ryazan region “City children’s clinic No.7”, Healthcare Ministry of the Ryazan region

ul. Vysokovol’tnaya 9, Ryazan’, 390026; ul. Novoselov 32A, Ryazan’, 390048

tel.: (4912) 97-18-77


Competing Interests:

The authors declare no conflict of interest.



N. A. Belykh
Ryazan State Medical University named after academician I.P.Pavlov, Ministry of Public Health of the Russian Federation
Russian Federation

Nataliya A. Belykh, Doctor of Medicine, Head of the Department of Faculty and Polyclinic Pediatrics with the Course of Pediatrics, Faculty of Additional Professional Education

ul. Vysokovol’tnaya 9, Ryazan’, 390026

tel.: (4912) 97-18-34


Competing Interests:

The authors declare no conflict of interest.



V. S. Arsenina
Ryazan State Medical University named after academician I.P.Pavlov, Ministry of Public Health of the Russian Federation
Russian Federation

Victoriya S. Arsenina, 4th year Student

ul. Vysokovol’tnaya 9, Ryazan’, 390026

tel.: (4912) 97-18-77


Competing Interests:

The authors declare no conflict of interest.



M. V. Chaplanov
Ryazan State Medical University named after academician I.P.Pavlov, Ministry of Public Health of the Russian Federation
Russian Federation

Mikhail V. Chaplanov, 4th year Student

ul. Vysokovol’tnaya 9, Ryazan’, 390026

tel.: (4912) 97-18-77


Competing Interests:

The authors declare no conflict of interest.



Yu. V. Deeva
Ryazan State Medical University named after academician I.P.Pavlov, Ministry of Public Health of the Russian Federation
Russian Federation

Yuliya V. Deeva, Assistant, Department of Faculty and Polyclinic Pediatrics with the Course of Pediatrics, Faculty of Additional Professional Education

ul. Vysokovol’tnaya 9, Ryazan’, 390026

tel.: (4912) 97-18-77


Competing Interests:

The authors declare no conflict of interest.



A. A. Burceva
State budgetary institution of the Ryazan region “City children’s clinic No.1”, Healthcare Ministry of the Ryazan region
Russian Federation

Anna A. Burtseva, Resident, Ryazan State Medical University named after academician I.P.Pavlov, Ministry of Public Health of the Russian Federation; District Pediatrician, State budgetary institution of the Ryazan region “City children’s clinic No.1”, Healthcare Ministry of the Ryazan region

ul. Dzerzhinskogo 16A, Ryazan’, 390005

тел.: (4912) 76-27-88


Competing Interests:

The authors declare no conflict of interest.



References

1. Frolov P.A., Zhestkova M.A., Ovsyannikov D.Yu. et al. [Non cystic fibrosis-related bronchiectasis in children: etiological structure, clinical and laboratory and computed tomographic characteristics]. Pediatriya. Consilium Medicum. 2022; (2): 166–173. DOI: 10.26442/26586630.2022.2.201679 (in Russian).

2. Chang A.B., Bush A., Grimwood K. Bronchiectasis in children: diagnosis and treatment. Lancet. 2018; 392 (10150): 866–879. DOI: 10.1016/S0140-6736(18)31554-X.

3. Bush A., Floto R.A. Pathophysiology, causes and genetics of paediatric and adult bronchiectasis. Respirology. 2019; 24 (11): 1053–1062. DOI: 10.1111/resp.13509.

4. Brown M.A., Leman R.J. Bronchiectasis. In: Chernick V., Boat T., eds. Kendig’s disorder of the respiratory tract in children. 6th Edn. Philadelphia: WB Saunders; 1998: 538–560. DOI: 10.1016/B978-0-7216-3695-5.X5001-9.

5. Geppe N.A., Rozinova N.N., Volkov I.K., Mizernitsky Yu.L. [Modern classification of clinical forms of bronchopulmonary diseases in children]. Pediatriya. 2010; 89 (4): 6–15. Available at: https://pediatriajournal.ru/files/upload/mags/306/2010_4_2687.pdf (in Russian).

6. Chang A.B., Fortescue R., Grimwood K. et al. European Respiratory Society guidelines for the management of children and adolescents with bronchiectasis. Eur. Respir. J. 2021; 58 (2): 2002990. DOI: 10.1183/13993003.02990-2020.

7. Ministry of Health of the Russian Federation.Union of Pediatricians of Russia. [Bronchiectasis in children: Сlinical guidelines]. Moscow; 2016. Available at: http://rdkbchr.ru/wp-content/documents/klin/kr_brek.pdf (in Russian).

8. Di Scioscio V., Zompatori M., Mistura I. et al. The role of spiral multidetector dynamic CT in the study of williams-campbell syndrome. Acta Radiol. 2006; 47 (8): 798–800. DOI: 10.1080/02841850600849084.

9. Williams H., Campbell P. Generalized bronchiectasis associated with deficiency of cartilage in the bronchial tree. Arch. Dis. Child. 1960; 35 (180): 182–191. DOI: 10.1136/adc.35.180.182.

10. Wayne K.S., Taussiq L.M. Probable familial congenital bronchiectasis due to cartilage deficiency (Williams – Campbell syndrome). Am. Rev. Respir. Dis. 1976; 114 (1): 15–22. DOI: 10.1164/arrd.1976.114.1.15.

11. Jones V.F., Eid N.S., Franco S.M. et al. Familial congenital bronchiectasis: Williams – Campbell syndrome. Pediatr. Pulmonol. 1993; 16 (4): 263–267. DOI: 10.1002/ppul.1950160410.

12. Noriega Aldave A.P., William Saliski D. The clinical manifestations, diagnosis and management of Williams – Campbell syndrome. N. Am. J. Med. Sci. 2014; 6 (9): 429–432. DOI: 10.4103/1947-2714.141620.

13. George J., Jain R., Tariq S.M. CT bronchoscopy in the diagnosis of Williams – Campbell syndrome. Respirology. 2006; 11 (1): 117–119. DOI: 10.1111/j.1440-1843.2006.00793.x.

14. Rohilla M., Previgliano C., Geimadi A., Sangster G. Williams – Campbell syndrome: an unusual presentation in an adult patient. BJR Case Rep. 2020; 7 (1): 20200052. DOI: 10.1259/bjrcr.20200052.

15. Kotlyarov S.N., Motynga K.A. [Physical weakness as COPD phenotype]. Nauka molodykh (Eruditio Juvenium). 2020; 8 (4):599-608. DOI: 10.23888/HMJ202084599-608 (in Rissian).

16. Shakhanov A.V., Korshunova L.V., Sidorova I.V. [Role of chronic obstructive pulmonary disease in formation of cognitive impairment]. Nauka molodykh (Eruditio Juvenium). 2019; 7 (1): 19–27. DOI: 10.23888/HMJ20197119-27 (in Russian).

17. Uryas'ev O.M., Shakhanov A.V., Kanatbekova Zh.K. [Nitric oxide and regulators of its synthesis in chronic obstructive pulmonary disease]. Rossiyskiy mediko-biologicheskiy vestnik imeni akademika I.P.Pavlova. 2021; 29 (3): 427–434. DOI: 10.17816/PAVLOVJ62681 (in Russian).

18. Lee A.L., Button B.M., Tannenbaum E.L. Airway-clearance techniques in children and adolescents with chronic suppurative lung disease and bronchiectasis. Front. Pediatr. 2017; 5: 2. DOI: 10.3389/fped.2017.00002.


Supplementary files

Review

For citations:


Stezhkina E.V., Belykh N.A., Arsenina V.S., Chaplanov M.V., Deeva Yu.V., Burceva A.A. A family case Williams – Campbell syndrome in clinical practice. PULMONOLOGIYA. 2023;33(5):713-721. (In Russ.) https://doi.org/10.18093/0869-0189-2023-33-5-713-721

Views: 1463


ISSN 0869-0189 (Print)
ISSN 2541-9617 (Online)