| Abstract | Nail-patela sindrom (Fongova bolest, nasljedna osteoonihodiplazija) rijetki je genetski poremećaj koji je karakterističan po promjenama na noktima, koljenima, laktovima i pojavi ilijačnih rogova(1). Nasljeđuje se autosomno dominantno, te 88% pacijenata ima roditelja s istim sindromom, dok se kod 12% pacijenata bolest javlja de novo tj. nemaju pretka koji je bolovao od ovog sindroma(2). Patološke promjene vidljive su samo na LMX1B genu pa se stoga zaključuje da zbog promjena na tom genu dolazi do pojave Nail-patela sindroma. Ovaj gen u ranoj embrionalnoj razvojnoj fazi zadužen je za razvoj udova, bubrega i očiju pa upravo zbog toga najčešći simptomi ove bolesti vezuju se za te organe i segmente(3). U kliničkoj slici najčešće je nedostatak ili deformacija noktiju, patela koja je mala, nepravilnog oblika ili odsutna, razne deformacije u laktu koje najčešće vode do dislokacije glave radijusa te pojava ilijačnih rogova tj. koštanih nastavaka u obliku stošca koji se pojavljuju obostrano na stražnjoj strani ilijačne kosti te nešto lateralnije od njenog središnjeg dijela(2). Uz ove promjene česta je pojava glaukoma i povišenog očnog tlaka te proteinurija zbog promjena na glomerularnoj bazalnoj membrani koja može voditi do neke od bolesti buburega(1). Bitno je da se bolest prepozna i dijagnosticira na vrijeme kako bi se s terapijom i prevencijom komplikacija započelo što prije. Zbog mnogih promjena na mišićno-koštanom sustavu bitna je fizioterapija zbog prevencije kontraktura, zauzimanja pravilnog položaja te jačanja i istezanja određenih mišića. Na taj način sprječava se razvoj motoričkih poteškoća ili ako je do njih već došlo, zaustavlja se njihov daljnji napredak. L.M. je djevojčica kojoj je u dobi od 11 mjeseci dijagnosticiran Nail-patela sindrom te na temelju karakterističnih promjena na noktima i laktovima. Fizioterapija je provođena od dijagnosticiranja bolesti te se pokazalo kako je imala pozitivan učinak na zdravstveno stanje pacijentice. |
| Abstract (english) | Nail-patella syndrome (Fong's disease, hereditary osteoonihodiplasia) is a rare genetic disorder characterized by changes in nails, knees, elbows, and the appearance of iliac horns (1). It is inherited autosomal dominantly, and 88% of patients have parents with the same syndrome, while in 12% of patients the disease occurs de novo, ie. they do not have an ancestor who suffered from this syndrome (2). Pathological changes are visible only on the LMX1B gene, so it is concluded that due to changes in this gene, Nail-patella syndrome occurs. This gene in the early embryonic developmental stage is responsible for the development of limbs, kidneys and eyes, which is why the most common symptoms of this disease are related to these organs and segments (3). In the clinical picture, the most common is the absence or deformation of the nail; the patella, which is small, irregular or absent; various deformations in the elbow that most often lead to dislocation of the radial head and the appearance of iliac horns,cone-shaped extensions which are located slightly more lateral on iliac bone than its central part (2). In addition to these changes, glaucoma and elevated intraocular pressure are common also as proteinuria due to changes in the glomerular basement membrane that can lead to some of the kidney disease (1). It is important that the disease is recognized and diagnosed in time so that therapy and prevention of complications can begin as soon as possible. Due to many changes in the musculoskeletal system, physiotherapy is important to prevent contractures, to take the correct position, and to strengthen and stretch certain muscles. In this way, the development of motor difficulties is prevented or, if they have already occurred, their further progress is stopped. L.M. is a girl who was diagnosed with Nail-patella syndrome at the age of 11 months and based on characteristic changes in her nails and elbows. Physiotherapy has been carried out since the diagnosis of the disease, and has shown that it had a positive effect on the patient's health. |
