Ispitivanje prisustva i značaja metaboličkog sindroma kod bolesnika sa miotoničnim distrofijama
Analysis of the presence and significance of the metabolic syndrome in patients with myotonic dystrophies
Докторанд
Vujnić, MiloradМентор
Rakočević-Stojanović, VidosavaЧланови комисије
Lavrnić, DraganaPopović, Srđan
Rašeta, Nela
Метаподаци
Приказ свих података о дисертацијиСажетак
Uvod: Miotonične distrofije tipa 1 i 2 (MD1 i MD2) su nasljedna, sporo
progresivna, multisistemska oboljenja. Metabolički sindrom (MetS) predstavlja skup
metaboličkih i hemodinamskih poremećaja koji višestruko povećavaju rizik obolijevanja
od kardiovaskularnih oboljenja i dijabetes melitusa tipa 2. Učestalost MetS kod bolesnika
sa neuromišićnim bolestima je visoka. U literaturi nedostaju podaci o učestalosti MetS kod
oboljelih od MD1 i MD2.
Cilj: Određivanje učestalosti MetS i njegovih pojedinačnih komponenti kod
bolesnika sa MD1 i MD2, kao i analiza uticaja MetS na znake multisistemske afekcije u
ovim oboljenjima.
Materijal i metode: U studiji je učestvovalo 77 MD1 bolesnika sa adultnom
formom bolesti i 47 MD2 bolesnika. Dijagnoza MetS je postavljena na osnovu novih
usaglašenih kriterijuma iz 2009. godine. Kod bolesnika je sprovedena detaljna klinička
analiza, uključujući kardiološki, pulmološki i oftalmološki pregled. Pored toga, analizirano
je stanje krvnih sudova vrata i glave pomo...ću ultrazvuka, opterećenje hiperintenznim
lezijama bijele mase mozga (HLBM) pomoću magnetne rezonance, kao i neuropsihološko
i bihevioralno stanje oboljelih. Bolesnici su popunili upitnike za mjerenje kvaliteta života:
SF-36, koji je generički upitnik, i INQoL, koji je upitnik specifičan za bolest.
Rezultati: MetS je registrovan kod 36% bolesnika sa MD1 što se nije razlikovalo u
odnosu na kontrole uparene po polu i starosti (38%). Teški EKG poremećaji su bili
značajno češći kod MD1 bolesnika sa hipertenzijom (50% prema 25%) i niskim HDL
holesterolom (45% prema 20%). Takođe, sistolna disfunkcija lijeve komore je bila češća
kod bolesnika sa hipertenzijom (22% u odnosu na 4%). MetS je bio značajan prediktor
spirometrijske restrikcije kod ispitivanih pacijenata, a najznačajnija pojedinačna
komponenta povezana sa restrikcijom je bila gojaznost (73% prema 50%). Katarakta je
bila prisutna kod svih MD1 bolesnika sa MetS i 82% onih bez MetS, što je bilo od
statističkog značaja. Samo 6% bolesnika je imalo aterosklerotske promjene na krvnim
sudovima vrata, a one nisu bile od hemodinamskog značaja. Hipertenzija je značajno
uticala na debljinu intimo-medijalnog kompleksa...
Introduction: Myotonic dystrophy type 1 and 2 (DM1 and DM2) are inherited,
slowly progressive, multisystem diseases. Metabolic syndrome (MetS) is a set of metabolic
and hemodynamic disorders which increases the risk of cardiovascular diseases and
diabetes mellitus type 2. The frequency of MetS in patients with neuromuscular diseases is
high. The literature lacks data on the frequency of MetS in patients with DM1 and DM2.
Objective: To assess the frequency of MetS and its individual components in
patients with DM1 and DM2, as well as to analzye the impact of MetS on different signs of
these multisystem diseases.
Materials and Methods: The study comprised 77 patients with adult form of DM1
and 47 patients MD2. The diagnosis of MetS was based on the new consensus criteria from
2009. Detailed clinical analysis was conducted, including cardiac, pulmonary and
ophthalmic examinations. In addition, blood vessels of the neck and head were analyzed by
means of ultrasound, brain white matter hype...rintense lesions (WMHL) were assessed
using magnetic resonance imaging, and we also examined neuropsychological and
behavioral status of patients. Patients completed quality of life questionnaires: SF-36,
which is a generic questionnaire, and INQoL, which is a disease-specific questionnaire.
Results: MetS was registered in 36% of patients with DM1 which did not differ
with respect to controls matched by sex and age (38%). Severe ECG abnormalities were
significantly more common in DM1 patients with hypertension (50% vs. 25%) and low
HDL cholesterol (45% vs. 20%). Also, systolic left ventricular dysfunction was more
common in patients with hypertension (22% vs. 4%). MetS was a significant predictor of
spirometric restriction in the examined patients, and the most important single component
associated with the restriction was obesity (73% vs. 50%). Cataract was present in all
patients with MetS and 82% of those without MetS which was statistically significant.
Only 6% of patients had atherosclerotic changes in the blood vessels of the neck, but they
were not of the hemodynamic significance. Hypertension had a significant impact on the
thickness of the intima-media complex...