Author/Editor     Bratanič, N; Kosem, R; Žerjav-Tanšek, M; Uršič-Bratina, N; Stopar-Obreza, M; Kržišnik, C; Battelino, T
Title     Osteogenesis imperfecta in spremembe zobovja
Translated title     Osteogenesis inperfecta and dental aberrations
Type     članek
Source     Zobozdrav Vestn
Vol. and No.     Letnik 60, št. 1-2
Publication year     2005
Volume     str. 5-19
Language     slo
Abstract     Osteogenesis imperfecta (OI) is a hereditary disorder characterised by increased bone fragility and low bone mass. Recurrent fractures result in bone deformities, loss in mobility and chronic pain. Basilar invagination is an uncommon but devastating complication of this disease. Additional clinical manifestations such as blue sclerae, dentinogenesis imperfecta, joint laxity and maturity onset deafness are described in the literature. OI has been classified into four major types according to clinical severity and radiographic findings. These main types of 0I are further divided into subtypes according to the presence or absence of dentinogenesis imperfecta. Recently, several new types of OI have been described, namely type V, type VI and the rhizomelic form. OI results from various mutations in genes COL1A1 and COL1A2 leading to defects in type I collagen, which is the major component of both bone and dentin. The medical care of OI patients follows a team approach. Recently, several studies have shown that treatment with bisphosphonate pamidronate significantly reduced the morbidity associated with moderate to severe forms of OI. The fracture rate decreases, chronic bone pain disappears and the quality of life improves. The high prevalence of dental aberrations in OI for careful clinical and radiographic examination of the oral cavity. Dentists should be involved in the care of OI patients. Through early diagnosis and appropriate dental procedures several consequenced of oral pathology can be prevented.
Summary     Osteogenesis imperfecta (OI) je prirojena bolezen, za katero je značilna povečana krhkost kosti s pogostimi zlomi, katerih posledica so deformacije dolgih kosti in hrbtenice, omejena telesna gibljivost in kronične bolečine. Deformacija kosti lobanjske baze in zgornjega dela vratne hrbtenice povzroči nastanek bazilarne invaginacije, ki je težek in lahko tudi življenje ogrožujoč zaplet OI. Zaradi osnovne motnje imajo bolniki lahko modro obarvane beločnice, spremembe na zobeh (dentinogenesis imperfecta) in okvaro sluha. Na osnovi klinične slike, rentgenskih značilnosti in vrste dedovanja se bolezen deli na 4 tipe; OI tipa I do OI tipa IV. Posamezne tipe OI glede na prisotnost oziroma odsotnost dentinogenesis imperfecta razdelimo na podtipe. V novejšem času so odkrili nove tipe bolezni, ki so jih poimenovali OI tipa V, VI in VII. Z biokemičnimi in molekularnogenetskimi preiskavami so ugotovili, da je pri večini bolnikov bolezen posledica ene od številnih mutacij genov COL1A1 in COL1A2, ki nosita zapis za prokolagen tip I, glavno strukturno beljakovino kosti in dentina. Obravnava bolnikov z OI je timska. V zadnjih letih so raziskave pokazale, da zdravljenje z bifosfonati učinkovito zmanjša težave bolnikov z zmerno in hudo obliko OI. Število zlomov se zmanjša in kronične bolečine v kosteh minejo, kar bolnikom pomembno izboljša kakovost življenja. Pogostnost sprememb zobovja utemeljuje pomen kliničnega in rentgenografskega pregleda ustne votline. Pri timski obravnavi bolnikov z OI morajo sodelovati tudi zobozdravniki. Zgodnja postavitev diagnoze in ustrezno ukrepanje lahko preprečita nekatere posledice bolezenskih sprememb v ustni votlini.
Descriptors     OSTEOGENESIS IMPERFECTA
DENTINOGENESIS IMPERFECTA
DIPHOSPHONATES