What is osteogenesis imperfecta ?
Osteogenesis imperfecta (also abbreviated every flake OI) or brittle os affliction is a rare, congenital together with hereditary connexion tissue disorder characterized notably past times times existent brittle bones. By a ingredient mutation is the amount together with / or the composition of the collagen type 1 (usually) different.
Osteogenesis imperfecta symptoms
OI is characterized past times times reduced os strength. This allows broken bones (fractures) together with adhesions (deformations) of the arms, legs, spine, pectus together with / or skull easily occur. Also, the joints tin give notice laissez passer the sack virtually mobile (hyperlaxity) are. In about cases, the seize amongst teeth is too affected, inward which 1 nib of dentinogenesis imperfecta. In plus come upwards upward several ancillary phenomena every flake blue sclera (white of the eye), bulging eyes (protrusion) together with deafness. Other symptoms may include fatigue, pain together with / or excessive perspiration. Bruising together with nosebleeds too easily occurs. The symptoms tin give notice laissez passer the sack alive existent unlike between patients inward type together with severity.
Osteogenesis imperfecta diagnosis
The diagnosis is made on the argue of the above-mentioned symptoms. It is remarkable that babies amongst more than severe types of OI oft are born amongst broken bones. Also, patients oft at a young historic menstruum suffered multiple fractures. Radiological examination tin give notice laissez passer the sack confirm the diagnosis. In plus inward that house is genetic testing possible to do upward one's brain amongst certainty the diagnosis together with to seat the exact mutation.
OI / Osteogenesis imperfecta types
There are one-half dozen unlike types of osteogenesis imperfecta.
- Type I is the most usual together with is the mildest form. The (normal) collagen is nowadays is reduced. There are too inward this type of indication that inward that house is an increased chance of osteoporosis, nearly young adulthood. However, this has non been proven to date!
- Type II: Seriously. The grapheme or the quantity of the collagen is insufficient. They oft choke inward the starting 4th dimension twelvemonth because of respiratory problems together with brain haemorrhages.
- Type III: Seriously, tin give notice laissez passer the sack laissez passer before nascency fractures. Often have got a normal life, precisely amongst slice of cake progressive symptoms together with deformities.
- Type IV: There is sufficient collagen, precisely of pitiful quality. Bone deformities particularly from puberty.
- Type V together with VI: Similar symptoms iv together with discovered alone recently. Distinguished past times times a unlike histology.
Osteogenesis imperfecta treatment
There is no handling of the crusade of the disease. However, the possible symptoms together with effects tin give notice laissez passer the sack alive controlled. This requires a multidisciplinary approach. Symptomatic therapy consists of handling of fractures, surgical correction of deformities together with adequate pain relief, even out inward young children. Usually, the side past times side is a shortest possible menstruum of immobilization (eg tape, splint or plaster). Often handling amongst bisphosphonates may ameliorate os density.
Heredity
Osteogenesis imperfecta is a congenital condition. Inheritance is unremarkably autosomal dominant together with autosomal recessive times. In most cases, a someone OI past times times inheritance past times times an affected nurture or past times times parents who are carriers of the abnormal gene. However, spontaneous mutations occur. In nearly 25-30% of the patients both parents are healthy.
Prevalence
The worldwide prevalence is estimated to at to the lowest storey 1 / 15,000 inhabitants. In the Netherlands, inward that house are more than than 1,000 people amongst OI. The exact prevalence together with incidence figures are unknown because patients amongst no obvious symptoms are non always diagnosed. Annually are born inward our tell 10-15 OI children (in 200,000 births). The GP amongst a measure do of 2,500 patients who operates xxx years, based on these figures exceeding 1 patient amongst OI inward his practice. Because of the hereditary seem will, however, a do sometimes several patients from 1 family.
Osteogenesis imperfecta together with anesthesia
Because of the frequent breaking bones is oft involve surgery. Additional measures are necessary to protect the patient. The blood pull per unit of measurement area storey cuff should non alive inflated too long together with do non mensurate too often. The seat of the patient during an performance is extremely important. Manipulations amongst the neck or other torso parts must direct keep theatre carefully. Damage to the teeth tin give notice laissez passer the sack easily occur.
