R.O. DEMIDOV¹, S.A. LAPSHINA^1,2, S.P. YAKUPOVA^1,2, R.G. MUKHINA³

¹Kazan State Medical University, 49 Butlerov St., Kazan, Russian Federation, 420012

²Republican Clinical Hospital of the MH of RT, 138 Orenburgskiy Tract, Kazan, Russian Federation, 420064

³City Clinical Hospital № 7, 54 Marshal Chuykov St., Kazan, Russian Federation, 420103

Demidov R.O. — 6^th year student of the medical faculty, tel. (843) 521-78-18, e-mail: [email protected]

Lapshina S.A. — Cand. Med. Sc., Associate Professor of the Department of Hospital Therapy, tel. (843) 237-34-83, e-mail: [email protected]

Yakupova S.P. — Cand. Med. Sc., Associate Professor of the Department of Hospital Therapy, tel. (843) 237-36-18, e-mail: [email protected]

Mukhina R.G. — Head of the Rheumatology Department, tel. (843) 221-36-55, e-mail: [email protected]

Connective tissue dysplasia is a unique anomaly of development of an organism, including a large heterogeneous group of conditions, which belongs to the complex issues of modern medicine. The article offers a review of the literature on the definition, pathogenesis, classification, general approaches to diagnosis and treatment of connective tissue dysplasia. Discusses the reasons for the development of connective tissue dysplasia, clinical forms are described. Data on the prevalence of connective tissue dysplasia with regard to the involvement of organs and systems. Systemic failure caused by a wide spread in the body of the connective tissue. The focus was on the clinical evaluation of undifferentiated forms of connective tissue dysplasia. Describes a clinical case of a patient with this disease. This review discusses the importance of timely diagnosis manifestations of connective tissue dysplasia.

Key words: collagen, connective tissue dysplasia, diagnosis, treatment.

REFERENCES

1. Nechaeva G.I., Viktorova I.A. Displaziya soedinitel’noy tkani: terminologiya, diagnostika, taktika vedeniya patsientov [Connective tissue dysplasia: terminology, diagnosis, patient management tactics]. Omsk: Tipografiya BLANKOM, 2007. 188 p.
2. Evtushenko S.K., Lisovskiy E.V., Evtushenko O.S. Displaziya soedinitel’noy tkani v nevrologii i pediatrii. Rukovodstvo dlya vrachey [Connective tissue dysplasia in neurology and pediatrics. Guide for physicians]. Donetsk: Zaslavskiy, 2009. 361 p.
3. Torshin I.Yu., Gromova O.A. Connective tissue dysplasia, cell biology and molecular mechanisms of action of magnesium. RMZh, 2008, vol. 16, no. 4 (314), pp. 230-38 (in Russ.).
4. Kadurina T.I., Gorbunova V.N. Displaziya soedinitel’noy tkani [Connective tissue dysplasia]. Saint Petersburg: Elbi-SPb, 2009.
5. Hereditary connective tissue disorders. Russian recommendations. All-Russian Scientific Society of Cardiology. Ross. kardiologicheskiy zhurnal, 2012, no. 4 (96), appl. 1, 32 p (in Russ.).
6. Tyabut T.D., Karatysh O.M. Undifferentiated connective tissue dysplasia. Sovrem. revmatol, 2009, no. 2, pp. 19-23 (in Russ.).
7. Nechaeva G.I., Yakovlev V.M., Konev V.P. et al. Connective tissue dysplasia: the main clinical syndromes, the wording of the diagnosis, treatment. Lechashchiy vrach, 2008, no. 2, pp. 22-28 (in Russ.).
8. Dedova V.O., Dotsenko N.Ya., Boev S.S. et al. Rasprostranennost’ displazii soedinitel’noy tkani [Prevalence of connective tissue dysplasia]. Zaporozh’e: GU “Zaporozhskaya meditsinskaya akademiya poslediplomnogo obrazovaniya Ministerstva zdravookhraneniya Ukrainy”, 2011; 2.
9. Belen’kiy A.G. Gipermobil’nost’ sustavov i gipermobil’nyy sindrom: rasprostranennost’ i kliniko-instrumental’naya kharakteristika: avtoref. dis. … d-ra med. nauk [Hypermobility of joints and hypermobility syndrome: prevalence and clinical characteristics of Tool. Synopsis of dis. Dr med. sci]. Moscow: GU “Institut revmatologii RAMN”, 2004. 51 p.
10. Lyakhovetskiy B.I., Glazkova L.K., Peretolchina T.F. Cutaneous signs of undifferentiated connective tissue dysplasia. Sovremennye problemy dermatovenerologii, immunologii i vrachebnoy kosmetologii, 2012, pp. 30-35 (in Russ.).
11. Nechaeva G.I., Yakovlev V.M., Druk I.V. et al. Cardiac arrhythmias when undifferentiated connective tissue dysplasia. Lechashchiy vrach, 2008, no. 6, pp. 2-7 (in Russ.).
12. Kadurina T.I., Abakumova L.N. Algoritm diagnostiki displazii soedinitel’noy tkani u detey [Algorithm for the diagnosis of connective tissue dysplasia in children]. Pediatricheskie aspekty displazii soedinitel’noy tkani. Dostizheniya i perspektivy: ros. sb. nauch. tr. s mezhdunar. uchastiem, pod red. S.F. Gnusaeva, T.I. Kadurinoy, A.N. Semyachkinoy. Tver; Saint Petersburg: OOO RG “PRE 100”, 2010. Pp. 32-39.
13. Svistunov A.A., Tsarev O.A., Maslyakova G.N. et al. The clinical course of varicose veins in patients with varying degrees of severity of connective tissue dysplasia.Saratovskiy nauchno-meditsinskiy zhurnal, 2009, vol. 5, no. 2, pp. 261-266 (in Russ.).
14. Evert L.S., Borozdun S.V., Bobrova E.I., Panicheva E.S., Kuznetsov V.S., Kachin S.V. Diagnosis of connective tissue dysplasia with biomarker. Zhurnal Sibirskogo federal’nogo universiteta. Seriya “Khimiya”, 2009, vol. 2, no. 4, pp. 385-390 (in Russ.).
15. Hereditary and multifactorial disorders of connective tissue in children. Diagnostic algorithms. Clinical management. Draft Russian. Pediatriya, 2014, vol. 93, no. 5 (suppl.), pp. S1-S40 (in Russ.).
16. Kadurina T.I., Abbakumova L.N. Assessment of the severity of undifferentiated connective tissue dysplasia in children. Med. vest. Sever. Kavkaza, 2008, vol. 2, no. 10, pp. 15-20 (in Russ.).