Degree of genetic homozygosity in children with developmental dysplasia of the hip

[S. Milašinović]

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Medicina - Ortopedija / Medicine - Orthopedy

Polazeći od činjenice da je razvojni poremećaj kuka genetički određen, predpostavili smo da uvećana genetička homozigotnost i nivo genetičkih opterećenja, kod obolelih osoba, mogu predstavljati vid predispozicije za različit stepen ispoljavanja oboljenja. Ovim radom želeli smo ustanoviti koliki procenat ispitanika potiče iz, porodičnom anamnezom opterećene, familije po pitanju obolevanja od bolesti kuka. Takođe, želeli smo ustanovit polnu zastupljenost među ispitanicima sa razvojnim poremećajem kuka, kao pokazatelj moguće genetičke etiologije. U ispitivanoj grupi pacijenata želeli smo ustanoviti distribuciju prisutnosti razvojnog poremećaja kuka, na osnovu nivoa ozbiljnosti manifestacije oblika oboljenja (displazija, subluksacija, luksacija), kao i na osnovu strane zahvaćenosti kuka ( levostrana, desnostrana, bilateralna). U ovom radu ispitivali smo da li kvalitet trudnoće majke i način porođaja utiču na incidenciju javljanja razvojnog poremećaja kuka.Takođe, želeli smo ispitati da li kvalitet funkcionalnog i anatomskog restituisanja obolelog zgloba kuka zavisi od starosti pacijenta u vreme kada je ispitanik operisan zbog razvojnog poremećaja istog. Materijal i metode: Našom studijom ispitivali smo 200 pacijenata, uzrasta od 3 do 17 godina, koji su zbog razvojnog poremećaja kuka lečeni na Univerzitetskoj dečjoj klinici u Beogradu, u periodu od 1992 do 2009 godine. Pacijentima koji su se ispitivali po pitanju razvojnog poremećaja kuka uzete su iscrpne anamneze koje su sadržale podatke o načinu manifestovanja oboljenja ( displazija, subluksacija, luksacija), vremenu dijagnostikovanja oboljenja, načinu i trajanju lečenja oboljenja, podatak o redosledu rođenosti, o terminskoj donešenost, podaci o trudnoći majke i načinu prezentacije ploda tokom trudnoće, kao i o porodičnoj anamnezi po pitanju razvojnog poremećaja kuka.Posebna pažnja posvećena je grupi od 78 pacijenata koji su tokom desetogodišnjeg praćenja, operativno lečeni zbog razvojnog poremećaja kuka, primenom Salterove innominatne osteotomije sa abrevijacijom i derotacijom butne kosti...

Assuming that developmental hip dysplasia is genetically controlled disease,we made a hypothesis that an increased homozygosity level and genetic loads, among the patients with developmental hip dysplasia , cuold be some kind of predisposition for the degree of illness expression.In this study we wanted to determine what percentage comes from families who have a family history burdened with regard to the presence of the disease of the hip. We wanted to examine gender representation among respondents with developmental dysplasia of the hip, as an indicator of possible genetic etiologije.In study group we wanted to establish a distribution of presence of developmental dislocation of the hip on the basis of the severity of the event forms the disease( dysplasia, subluxation and luxation), as well as based on the involvement of the side hip ( left -sided, right –sided,bilateral). In this study we investigated whether the quality of the mother's pregnancy and childbirth way affect the incidence of developmental dysplasia of the hip. Also, we wanted to examine whether the quality of anatomical and functional restitution of a diseased hip joint depends on the patient's age at the time the respondent operated for developmental dysplasia of the same. Material and methods: In our study we examined 200 patients, aged 3 to 17 years, which are due to developmental dysplasia of the hip developmental hip dysplasia treated at the University Children's Hospital in Belgrade in the period from 1992 to 2009 godine. Patients that were examined in terms of developmental hip dysplasia are taken exhaustive history containing information on the mode of manifestation of disease (dysplasia, subluxation, dislocation), the time of diagnosis of disease, mode and time of treating a disease, information on the order term birth, the term delivery, the data on the mother's pregnancy, and the method of presentation of the fetus, as well as family history, in terms of developmental dysplasia of the hip.Special attention was given to a group of 78 patients who have over ten years of monitoring, operational treated for developmental dysplasia of the hip, using innominatne Salter osteotomy with abbreviations and derotation femoral bone...

razvojni poremećaj kuka, kolodijafizarni ugao, Hilgenreinerov ugao, Wibergov ugao

developmental hip dysplasia, collodiaphyseal angle,Hilgenreiner angle,Wiberg's centre-edge angle

616.728.2-007-053.2(043.3)

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