FAQs

FAQs

Frequently Asked Questions

Brittle bone disease is a disorder that results in fragile bones that break easily. It’s present at birth and usually develops in children who have a family history of the disease.

The disease is often referred to as osteogenesis imperfecta (OI), which means “imperfectly formed bone.”

Brittle bone disease can range from mild to severe. Most cases are mild, resulting in few bone fractures. However, the severe forms of the disease can cause:

  • Hearing Loss
  • Heart Failure
  • Spinal Cord Problems
  • Permanent Deformities

OI can sometimes be life-threatening if it occurs in babies either before or shortly after birth. Approximately one person in 20,000 will develop brittle bone disease. It occurs equally among males and females and among ethnic groups.

Brittle bone disease is caused by a defect, or flaw, in the gene that produces type 1 collagen, a protein used to create bone. The defective gene is usually inherited. In some cases, however, a genetic mutation, or change, can cause it.

Four different genes are responsible for collagen production. Some or all of these genes can be affected in people with OI. Defective genes can produce eight types of brittle bone disease, labeled as type 1 OI through type 8 OI. The first four types are the most common. The last four are extremely rare, and most are subtypes of type 4 OI. Here are the four main types of OI:

Type 1 OI

Type 1 OI is the mildest and most common form of brittle bone disease. In this type of brittle bone disease, your body produces quality collagen but not enough of it. This results in mildly fragile bones. Children with type 1 OI typically have bone fractures due to mild traumas. Such bone fractures are much less common in adults. The teeth may also be affected, resulting in dental cracks and cavities.

Type 2 OI

Type 2 OI is the most severe form of brittle bone disease, and it can be life-threatening. In type 2 OI, your body either doesn’t produce enough collagen or produces collagen that’s poor quality. Type 2 OI can cause bone deformities. If your child is born with type 2 OI, they may have a narrowed chest, broken or misshapen ribs, or underdeveloped lungs. Babies with type 2 OI can die in the womb or shortly after birth.

Type 3 OI

Type 3 OI is also a severe form of brittle bone disease. It causes bones to break easily. In type 3 OI, your child’s body produces enough collagen but its poor quality. Your child’s bones can even begin to break before birth. Bone deformities are common and may get worse as your child gets older.

Type 4 OI

Type 4 OI is the most variable form of brittle bone disease because its symptoms range from mild to severe. As with type 3 OI, your body produces enough collagen but the quality is poor. Children with type 4 OI are typically born with bowed legs, although the bowing tends to lessen with age.

The symptoms of brittle bone disease differ according to the type of the disease. Everyone with brittle bone disease has fragile bones, but the severity varies from person to person. Brittle bone disease has one or more of the following symptoms:

  • Deformities
  • Multiple Broken Bones
  • Loose Joints
  • Weak Teeth
  • Blue Sclera, or a bluish color in the white of the eye
  • Bowed Legs and Arms
  • Kyphosis, or an abnormal outward curve of the upper spine
  • Scoliosis, or an abnormal lateral curve of the spine
  • Early Hearing Loss
  • Respiratory Problems
  • Heart Defects

Your doctor can diagnose brittle bone disease by taking X-rays. X-rays allow your doctor to see current and past broken bones. They also make it easier to view defects in the bones. Lab tests may be used to analyze the structure of your child’s collagen. In some cases, your doctor may want to do a skin punch biopsy. During this biopsy, the doctor will use a sharp, hollow tube to remove a small sample of your tissue.

Genetic testing can be done to trace the source of any defective genesis.

There’s no cure for brittle bone disease. However, there are supportive therapies that help reduce your child’s risk of broken bones and increase their quality of life. Treatments for brittle bone disease include:

  • Physical and occupational therapy to increase your child’s mobility and muscle strength
  • Bisphosphonate medications to strengthen your child’s bones
  • Medicine to reduce any pain
  • Low-impact exercise to help build bone
  • Surgery to place rods in your child’s bones
  • Reconstructive surgery to correct bone deformities
  • Mental health counseling to help treat issues with body image

The long-term outlook varies depending on the type of brittle bone disease. Outlooks for the four main types of brittle bone disease are:

Type 1 OI

If your child has type 1 OI, they can live a normal life with relatively few problems.

Type 2 OI

Type 2 OI is often fatal. A child with type 2 OI may die in the womb or shortly after birth from respiratory problems.

Type 3 OI

If your child has type 3 OI, they may have severe bone deformities and often require a wheelchair to get around. They usually have shorter lifespans than people with type 1 or 4 OI.

Type 4 OI

If your child has type 4 OI, they may need crutches to walk. However, their life expectancy is normal or close to normal.

Ọrịa ọkpụkpụ na-agbaji agbaji bụ ọrịa na-ebute ọkpụkpụ na-esighi ike nke na-agbaji ngwa ngwa.  Ọ na-adị mgbe a mụrụ ya ma na-etolitekarị na ụmụaka nwere akụkọ ihe mere eme ezinụlọ nke ọrịa ahụ.

A na-akpọkarị ọrịa a dị ka osteogenesis imperfecta (OI), nke pụtara “ọkpụkpụ na-ezughị okè.”

Ọrịa ọkpụkpụ na-agbaji agbawa nwere ike ịdị n’ụdị dị nro ruo nke siri ike.  Ọtụtụ ikpe na-adị nwayọọ, na-ebute mgbaji ọkpụkpụ ole na ole.  Agbanyeghị, ụdị ọrịa ahụ siri ike nwere ike ibute:

  • Ọnwụ anụ
  • Obi ọdịda
  • Nsogbu Ọkpụkpụ Ọkpụkpụ
  • Nrụrụ na-adịgide adịgide

OI nwere ike na-eyi ndụ egwu mgbe ụfọdụ ma ọ bụrụ na ọ na-eme n’ime ụmụ ọhụrụ tupu oge eruo ma ọ bụ obere oge ka a mụsịrị ya.  Ihe dị ka otu onye n’ime 20,000 ga-ebute ọrịa ọkpụkpụ na-agbaji agbaji.  Ọ na-apụta n’otu aka ahụ n’etiti nwoke na nwanyị na n’etiti agbụrụ.

Ihe na-akpata ọrịa ọkpụkpụ na-agbaji agbawa bụ ntụpọ, ma ọ bụ ntụpọ, n’ime mkpụrụ ndụ ihe nketa nke na-emepụta ụdị 1 collagen, bụ́ protein e ji emepụta ọkpụkpụ.  A na-eketakarị mkpụrụ ndụ ihe nketa nwere nkwarụ.  N’ọnọdụ ụfọdụ, Otú ọ dị, mmụgharị mkpụrụ ndụ ihe nketa, ma ọ bụ mgbanwe, nwere ike ịkpata ya.

Mkpụrụ ndụ ihe nketa anọ dị iche iche na-ahụ maka mmepụta collagen.  Ụfọdụ ma ọ bụ ndị a niile nwere ike imetụta ndị nwere OI.  Mkpụrụ ndụ ihe nketa na-adịghị mma nwere ike ịmepụta ụdị asatọ nke ọrịa ọkpụkpụ na-agbaji agbaji, nke akpọrọ dị ka ụdị 1 OI site na ụdị 8 OI.  Ụdị anọ mbụ bụ nke a na-ahụkarị.  Anọ ikpeazụ dị ụkọ nke ukwuu, ọtụtụ bụ ụdị nke ụdị 4 OI.  Nke a bụ ụdị isi anọ nke OI:

Ụdị 1 OI

Ụdị 1 OI bụ ụdị ọrịa ọkpụkpụ na-agbaji nke ọma na nke na-adịkarịkarị.  N’ụdị ọrịa ọkpụkpụ na-agbaji agbaji, ahụ gị na-emepụta collagen dị mma mana ọ naghị ezuru ya.  Nke a na-ebute ọkpụkpụ na-esighi ike.  Ụmụaka nwere ụdị 1 OI na-enwekarị mgbaji ọkpụkpụ n’ihi ọnyà dị nro.  Ọkpụkpụ ọkpụkpụ dị otú ahụ na-adịkarị obere na ndị okenye.  Enwere ike imetụta ezé, nke na-ebute mgbawa eze na oghere.

Ụdị 2 OI

Ụdị 2 OI bụ ụdị ọrịa ọkpụkpụ na-agbaji agbawa nke ukwuu, ọ pụkwara ịdị na-eyi ndụ egwu.  Na ụdị 2 OI, ahụ gị anaghị emepụta collagen zuru oke ma ọ bụ na-emepụta collagen na-adịghị mma.  Ụdị 2 OI nwere ike ịkpata nrụrụ ọkpụkpụ.  Ọ bụrụ na a mụrụ nwa gị na ụdị 2 OI, ọ nwere ike ịnwe igbe dị warara, gbajiri agbaji ma ọ bụ ọgịrịga emeghị nke ọma, ma ọ bụ ngụgụ na-emepebeghị emepe.  Ụmụ ọhụrụ nwere ụdị 2 OI nwere ike ịnwụ n’afọ ma ọ bụ obere oge ka a mụsịrị ya.

Ụdị 3 OI

Ụdị 3 OI bụkwa ụdị ọrịa ọkpụkpụ siri ike.  Ọ na-eme ka ọkpụkpụ na-agbaji ngwa ngwa.  N’ụdị 3 OI, ahụ nwa gị na-emepụta collagen zuru oke mana ọ dịghị mma.  Ọkpụkpụ nwa gị nwere ike ịmalite ịgbaji tupu a mụọ ya.  Nrụrụ ọkpụkpụ na-adịkarị ma nwee ike ịka njọ ka nwa gị na-etolite.

Ụdị 4 OI

Ụdị 4 OI bụ ụdị ọrịa ọkpụkpụ na-agbaji agbawa nke ukwuu n’ihi na mgbaàmà ya na-esi na nwayọọ ruo n’ike.  Dị ka ọ dị na ụdị 3 OI, ahụ gị na-emepụta collagen zuru oke mana àgwà adịghị mma.  Ụmụaka nwere ụdị 4 OI ka a na-amụkarị n’ụkwụ gbadara agbagọ, ọ bụ ezie na ụta ahụ na-ebelata ka ha na-eto.

Ihe mgbaàmà nke ọrịa ọkpụkpụ na-agbaji agbawa dị iche iche dịka ụdị ọrịa ahụ si dị.  Onye ọ bụla nwere ọrịa ọkpụkpụ na-agbaji agbaji nwere ọkpụkpụ na-esighi ike, mana ogo ya na-adịgasị iche site na mmadụ gaa na onye ọzọ.  Ọrịa ọkpụkpụ na-agbaji agbawa nwere otu ma ọ bụ karịa n’ime mgbaàmà ndị a:

  • Otu nrụrụ
  • Ọtụtụ ọkpụkpụ gbajiri agbaji
  • Njiko rụrụ arụ
  • Ezé na-adịghị ike
  • Blue Sclera, ma ọ bụ agba na-acha anụnụ anụnụ na ọcha nke anya
  • Ụkwụ na Ogwe aka
  • Kyphosis, ma ọ bụ mpụta apụta nke azụ azụ azụ
  • Scoliosis, ma ọ bụ akụkụ na-adịghị mma nke ọkpụkpụ azụ
  • Mfu anụ mbụ
  • Nsogbu iku ume
  • Mmejọ obi

Dọkịta gị nwere ike ịchọpụta ọrịa ọkpụkpụ na-agbaji agbawa site na iji X-ray.  X-ray na-enye dọkịta gị ohere ịhụ ọkpụkpụ gbajiri agbaji ugbu a na nke gara aga.  Ha na-emekwa ka ọ dịkwuo mfe ịhụ ntụpọ dị n’ọkpụkpụ.  Enwere ike iji nyocha ụlọ nyocha iji nyochaa nhazi nke collagen nwa gị.  N’ọnọdụ ụfọdụ, dọkịta gị nwere ike ịchọ ime biopsy anụ ahụ.  N’oge biopsy a, dọkịta ga-eji tube dị nkọ, nke nwere oghere wepụ obere ihe nlele nke anụ ahụ gị.

Enwere ike ime nnwale mkpụrụ ndụ ihe nketa iji chọpụta ebe mkpụrụ ndụ ihe nketa ọ bụla nwere ntụpọ.

Enweghị ọgwụgwọ maka ọrịa ọkpụkpụ na-agbaji agbaji.  Otú ọ dị, e nwere usoro ọgwụgwọ na-akwado nke na-enyere aka belata ihe ize ndụ nke nwa gị nke gbajiri ọkpụkpụ ma mee ka ndụ ya dịkwuo mma.  Ọgwụgwọ maka ọrịa ọkpụkpụ na-agbaji agbaji gụnyere:

  • Usoro ọgwụgwọ anụ ahụ na nke ọrụ iji mee ka mmegharị na ike ahụ nwa gị dịkwuo elu
  • Ọgwụ Bisphosphonate iji mee ka ọkpụkpụ nwa gị sie ike
  • Ọgwụ iji belata mgbu ọ bụla
  • Mmega ahụ na-enwe mmetụta dị ala iji nyere aka wuo ọkpụkpụ
  • Ịwa ahụ iji tinye mkpara n’ọkpụkpụ nwa gị
  • Ịwa ahụ na-ewughachi iji dozie nrụrụ ọkpụkpụ
  • Ndụmọdụ ahụike uche iji nyere aka na-agwọ nsogbu nwere ọdịdị ahụ.

Echiche ogologo oge dịgasị iche dabere n’ụdị ọrịa ọkpụkpụ na-agbaji agbaji.  Echiche maka ụdị ọrịa ọkpụkpụ anọ bụ isi bụ:

Ụdị 1 OI

Ọ bụrụ na nwa gị nwere ụdị 1 OI, ha nwere ike ibi ndụ nkịtị na nsogbu ole na ole.

Ụdị 2 OI

Ụdị 2 OI na-egbukarị egbu.  Nwatakịrị nwere ụdị 2 OI nwere ike ịnwụ n’afọ ma ọ bụ obere oge ka amuchara ya site na nsogbu iku ume.

Ụdị 3 OI

Ọ bụrụ na nwa gị nwere ụdị 3 OI, ha nwere ike inwe nrụrụ ọkpụkpụ siri ike ma na-achọkarị oche nkwagharị iji gagharịa.  Ha na-enwekarị ndụ dị mkpụmkpụ karịa ndị nwere ụdị 1 ma ọ bụ 4 OI.

Ụdị 4 OI

Ọ bụrụ na nwa gị nwere ụdị 4 OI, ọ nwere ike chọọ crutches iji jee ije.  Otú ọ dị, atụmanya ndụ ha bụ ihe kwesịrị ekwesị ma ọ bụ dị nso na nkịtị.

Arun egungun brittle jẹ aiṣedeede ti o yọrisi awọn egungun ẹlẹgẹ ti o fọ ni irọrun.  O wa ni ibimọ ati nigbagbogbo ndagba ninu awọn ọmọde ti o ni itan-akọọlẹ ẹbi ti arun na.

Arun naa ni a maa n tọka si bi osteogenesis imperfecta (OI), eyiti o tumọ si “egungun ti a ṣe ni aipe.”

Arun egungun brittle le wa lati ìwọnba si àìdá.  Pupọ awọn ọran jẹ ìwọnba, ti o fa awọn fifọ egungun diẹ.  Sibẹsibẹ, awọn fọọmu ti o lewu ti arun na le fa:

  • Isonu Igbọran
  • Ikuna Okan
  • Awọn iṣoro Okun Ọgbẹ
  • Awọn abawọn ti o yẹ

OI le jẹ idẹruba aye nigbakan ti o ba waye ninu awọn ọmọ ikoko boya ṣaaju tabi ni kete lẹhin ibimọ.  O fẹrẹ to eniyan kan ninu 20,000 yoo dagbasoke arun eegun eegun.  O waye bakanna laarin awọn ọkunrin ati awọn obinrin ati laarin awọn ẹgbẹ ẹya.

Aisan egungun Brittle jẹ nitori abawọn, tabi abawọn, ninu apilẹṣẹ ti o nmu iru 1 collagen jade, amuaradagba ti a lo lati ṣẹda egungun.  Jiini alebu awọn ti wa ni maa jogun.  Ni awọn igba miiran, sibẹsibẹ, iyipada jiini, tabi iyipada, le fa.

Awọn Jiini oriṣiriṣi mẹrin jẹ iduro fun iṣelọpọ collagen.  Diẹ ninu tabi gbogbo awọn Jiini le ni ipa ninu awọn eniyan pẹlu OI.  Awọn Jiini ti o ni abawọn le ṣe agbejade awọn oriṣi mẹjọ ti arun egungun brittle, ti a samisi bi iru 1 OI nipasẹ iru 8 OI.  Awọn oriṣi mẹrin akọkọ jẹ wọpọ julọ.  Awọn ti o kẹhin mẹrin ni o wa lalailopinpin toje, ati julọ ni o wa subtypes ti iru 4 OI.  Eyi ni awọn oriṣi akọkọ mẹrin ti OI:

Iru 1 OI

Iru 1 OI jẹ fọọmu ti o ni irẹlẹ ati ti o wọpọ julọ ti arun egungun brittle.  Ninu iru arun egungun brittle yii, ara rẹ ṣe agbejade collagen didara ṣugbọn ko to.  Eyi n yọrisi awọn egungun ẹlẹgẹ.  Awọn ọmọde ti o ni iru 1 OI ni igbagbogbo ni awọn fifọ egungun nitori awọn ipalara kekere.  Iru awọn fifọ egungun jẹ diẹ ti ko wọpọ ni awọn agbalagba.  Awọn eyin le tun ni ipa, ti o fa awọn dojuijako ehín ati awọn cavities.

Iru 2 OI

Iru 2 OI jẹ fọọmu ti o nira julọ ti arun egungun brittle, ati pe o le jẹ eewu igbesi aye.  Ni iru 2 OI, ara rẹ boya ko gbejade kolaginni to tabi ṣe agbejade akojọpọ ti ko dara.  Iru 2 OI le fa awọn idibajẹ egungun.  Ti a ba bi ọmọ rẹ pẹlu iru 2 OI, wọn le ni àyà ti o dín, fifọ tabi awọn ẹgbẹ ti ko tọ, tabi ẹdọforo ti ko ni idagbasoke.  Awọn ọmọ ti o ni iru 2 OI le ku ninu oyun tabi ni kete lẹhin ibimọ.

Iru 3 OI

Iru 3 OI tun jẹ fọọmu ti o nira ti arun egungun brittle.  O mu ki awọn egungun fọ ni irọrun.  Ni iru 3 OI, ara ọmọ rẹ ṣe agbejade kolaginni to ṣugbọn ko dara.  Egungun ọmọ rẹ le paapaa bẹrẹ lati fọ ṣaaju ibimọ.  Awọn idibajẹ egungun jẹ wọpọ ati pe o le buru si bi ọmọ rẹ ti n dagba sii.

Iru 4 OI

Iru 4 OI jẹ ọna ti o yipada julọ ti arun egungun brittle nitori awọn aami aisan rẹ wa lati ìwọnba si àìdá.  Bi pẹlu iru 3 OI, ara rẹ ṣe agbejade kolaginni to ṣugbọn didara ko dara.  Awọn ọmọde ti o ni iru 4 OI ni a bi pẹlu awọn ẹsẹ ti o tẹriba, biotilejepe iteriba duro lati dinku pẹlu ọjọ ori.

Awọn aami aiṣan ti arun egungun brittle yato ni ibamu si iru arun na.  Gbogbo eniyan ti o ni arun eegun ja ni awọn egungun ẹlẹgẹ, ṣugbọn bi o ṣe le ṣe yatọ lati eniyan si eniyan.  Arun egungun brittle ni ọkan tabi diẹ ẹ sii ti awọn aami aisan wọnyi:

  • Ọkan Deformities
  • Opo Egungun Baje
  • Awọn isẹpo alaimuṣinṣin
  • Eyin Alailagbara
  • Blue Sclera, tabi awọ bulu ni funfun ti oju
  • Awọn ẹsẹ ti o tẹriba ati awọn apa
  • Kyphosis, tabi yiyi ita ita ti ọpa ẹhin oke
  • Scoliosis, tabi ohun ajeji ti ita ti ọpa ẹhin
  • Isonu Igbọran Tete
  • Awọn iṣoro atẹgun
  • Awọn abawọn Ọkàn

Dọkita rẹ le ṣe iwadii aisan egungun ti o bajẹ nipa gbigbe awọn egungun X.  Awọn egungun X gba dokita rẹ laaye lati wo awọn egungun ti o fọ lọwọlọwọ ati ti o kọja.  Wọn tun jẹ ki o rọrun lati wo awọn abawọn ninu awọn egungun.  Awọn idanwo ile-iṣẹ le ṣee lo lati ṣe itupalẹ ọna ti akojọpọ ọmọ rẹ.  Ni awọn igba miiran, dokita rẹ le fẹ ṣe biopsy punch awọ ara.  Lakoko biopsy yii, dokita yoo lo tube didasilẹ, ṣofo lati yọ ayẹwo kekere ti ara rẹ kuro.

Idanwo jiini le ṣee ṣe lati wa kakiri orisun eyikeyi ti ipilẹṣẹ aibuku.

Ko si arowoto fun arun egungun brittle.  Sibẹsibẹ, awọn itọju alatilẹyin wa ti o ṣe iranlọwọ lati dinku eewu ọmọ rẹ ti awọn egungun fifọ ati mu didara igbesi aye wọn pọ si.  Awọn itọju fun arun egungun brittle pẹlu:

  • Itọju ailera ti ara ati iṣẹ lati mu iṣipopada ọmọ rẹ pọ si ati agbara iṣan
  • Awọn oogun Bisphosphonate lati mu awọn egungun ọmọ rẹ lagbara
  • Oogun lati dinku eyikeyi irora
  • Idaraya ipa kekere lati ṣe iranlọwọ lati kọ egungun
  • Iṣẹ abẹ lati gbe awọn ọpa sinu awọn egungun ọmọ rẹ
  • Iṣẹ abẹ atunṣe lati ṣe atunṣe awọn idibajẹ egungun
  • Imọran ilera ọpọlọ lati ṣe iranlọwọ lati tọju awọn ọran pẹlu aworan ara

Iwoye igba pipẹ yatọ da lori iru arun egungun brittle.  Awọn oju-ọna fun awọn oriṣi akọkọ mẹrin ti arun egungun brittle jẹ:

Iru 1 OI

Ti ọmọ rẹ ba ni iru 1 OI, wọn le gbe igbesi aye deede pẹlu awọn iṣoro diẹ diẹ

Iru 2 OI

Iru 2 OI nigbagbogbo ma npa.  Ọmọde ti o ni iru 2 OI le ku ninu ikun tabi ni kete lẹhin ibimọ lati awọn iṣoro atẹgun.

Iru 3 OI

Ti ọmọ rẹ ba ni iru 3 OI, wọn le ni awọn idibajẹ egungun ti o lagbara ati nigbagbogbo nilo kẹkẹ-kẹkẹ lati wa ni ayika.  Nigbagbogbo wọn ni awọn igbesi aye kukuru ju awọn eniyan ti o ni iru 1 tabi 4 OI.

Iru 4 OI

Ti ọmọ rẹ ba ni iru 4 OI, wọn le nilo crutches lati rin.  Sibẹsibẹ, ireti igbesi aye wọn jẹ deede tabi sunmọ si deede.

Ugonjwa wa brittle bone ni ugonjwa unaosababisha mifupa kuvunjika kwa urahisi.  Inapatikana wakati wa kuzaliwa na kawaida hua kwa watoto ambao wana historia ya familia ya ugonjwa huo.

Ugonjwa huo mara nyingi huitwa osteogenesis imperfecta (OI), ambayo humaanisha “mfupa usio na ukamilifu.”

Ugonjwa wa mfupa wa brittle unaweza kuanzia kali hadi kali.  Kesi nyingi ni nyepesi, na kusababisha fractures chache za mfupa.  Walakini, aina kali za ugonjwa zinaweza kusababisha:

  • Kupoteza kusikia
  • Moyo kushindwa kufanya kazi
  • Matatizo ya Uti wa Mgongo
  • Ulemavu wa Kudumu

OI wakati mwingine inaweza kuhatarisha maisha ikiwa hutokea kwa watoto ama kabla au muda mfupi baada ya kuzaliwa.  Takriban mtu mmoja kati ya 20,000 atapatwa na ugonjwa wa mifupa brittle.  Inatokea kwa usawa kati ya wanaume na wanawake na kati ya makabila.

Ugonjwa wa mifupa brittle husababishwa na kasoro, au dosari, katika jeni inayotoa kolajeni ya aina 1, protini inayotumiwa kuunda mfupa.  Jeni mbovu kawaida hurithiwa.  Katika baadhi ya matukio, hata hivyo, mabadiliko ya maumbile, au mabadiliko, yanaweza kusababisha.

Jeni nne tofauti zinawajibika kwa utengenezaji wa collagen.  Baadhi au jeni hizi zote zinaweza kuathirika kwa watu walio na OI.  Jeni zenye kasoro zinaweza kutoa aina nane za ugonjwa wa brittle bone, unaoitwa aina ya OI ya 1 kupitia aina ya 8 OI.  Aina nne za kwanza ndizo zinazojulikana zaidi.  Nne za mwisho ni nadra sana, na nyingi ni aina ndogo za aina 4 OI.  Hapa kuna aina nne kuu za OI:

Aina ya 1 OI

Aina ya OI ya 1 ndiyo aina kali na ya kawaida zaidi ya ugonjwa wa brittle bone.  Katika aina hii ya ugonjwa wa mifupa brittle, mwili wako hutoa collagen ya ubora lakini haitoshi.  Hii husababisha mifupa kuwa dhaifu.  Watoto walio na aina ya OI ya 1 kwa kawaida huvunjika mfupa kutokana na majeraha madogo.  Kuvunjika kwa mifupa kama hiyo ni kawaida sana kwa watu wazima.  Meno pia yanaweza kuathiriwa, na kusababisha nyufa na matundu ya meno.p

Aina ya 2 OI

Aina ya 2 OI ndiyo aina kali zaidi ya ugonjwa wa brittle bone, na inaweza kuhatarisha maisha.  Katika aina ya 2 OI, mwili wako hauzalishi collagen ya kutosha au hutoa collagen ambayo ni duni.  Aina ya 2 OI inaweza kusababisha ulemavu wa mifupa.  Ikiwa mtoto wako amezaliwa na aina ya 2 OI, anaweza kuwa na kifua nyembamba, mbavu zilizovunjika au zisizo na umbo, au mapafu yasiyokua.  Watoto walio na aina ya 2 OI wanaweza kufa wakiwa tumboni au muda mfupi baada ya kuzaliwa.

Aina ya 3 OI

Aina ya 3 OI pia ni aina kali ya ugonjwa wa brittle bone.  Husababisha mifupa kuvunjika kwa urahisi.  Katika aina ya 3 OI, mwili wa mtoto wako hutoa collagen ya kutosha lakini ni ya ubora duni.  Mifupa ya mtoto wako inaweza hata kuanza kuvunjika kabla ya kuzaliwa.  Ulemavu wa mifupa ni wa kawaida na unaweza kuwa mbaya zaidi mtoto wako anapokua.

Aina ya 4 OI

Aina ya 4 OI ndiyo aina inayobadilika zaidi ya ugonjwa wa brittle bone kwa sababu dalili zake ni kati ya upole hadi kali.  Kama ilivyo kwa aina ya 3 OI, mwili wako hutoa collagen ya kutosha lakini ubora ni duni.  Watoto walio na aina ya 4 OI kawaida huzaliwa na miguu iliyoinama, ingawa kuinama huelekea kupungua kadiri umri unavyoendelea.

Dalili za ugonjwa wa brittle mifupa hutofautiana kulingana na aina ya ugonjwa huo.  Kila mtu aliye na ugonjwa wa brittle mifupa ana mifupa dhaifu, lakini ukali hutofautiana kutoka kwa mtu hadi mtu.  Ugonjwa wa Brittle bone una dalili moja au zaidi zifuatazo:

  • Ulemavu Mmoja
  • Mifupa Mingi Iliyovunjika
  • Viungo Vilivyolegea
  • Meno dhaifu
  • Sclera ya Bluu, au rangi ya hudhurungi katika nyeupe ya jicho
  • Miguu na Mikono iliyoinama
  • Kyphosis, au mkunjo wa nje usio wa kawaida wa mgongo wa juu
  • Scoliosis, au mkunjo wa upande usio wa kawaida wa mgongo
  • Upotevu wa Kusikia Mapema
  • Matatizo ya Kupumua
  • Mapungufu ya Moyo

Daktari wako anaweza kugundua ugonjwa wa mifupa brittle kwa kuchukua X-rays.  X-rays huruhusu daktari wako kuona mifupa iliyovunjika ya sasa na ya zamani.  Pia hurahisisha kuona kasoro kwenye mifupa.  Vipimo vya maabara vinaweza kutumika kuchanganua muundo wa kolajeni ya mtoto wako.  Katika hali nyingine, daktari wako anaweza kutaka kufanya biopsy ya ngozi.  Wakati wa biopsy hii, daktari atatumia bomba lenye ncha kali ili kuondoa sampuli ndogo ya tishu zako.

Upimaji wa kinasaba unaweza kufanywa ili kufuatilia chanzo cha genesis yoyote yenye kasoro.

Hakuna tiba ya ugonjwa wa mifupa brittle.  Hata hivyo, kuna matibabu ya kuunga mkono ambayo husaidia kupunguza hatari ya mtoto wako ya kuvunjika mifupa na kuongeza ubora wa maisha yao.  Matibabu ya ugonjwa wa brittle mifupa ni pamoja na:

  • Tiba ya kimwili na ya kikazi ili kuongeza uhamaji wa mtoto wako na nguvu za misuli
  • Dawa za bisphosphonate ili kuimarisha mifupa ya mtoto wako
  • Dawa ya kupunguza maumivu yoyote
  • Zoezi lisilo na athari kidogo kusaidia kujenga mfupa
  • Upasuaji wa kuweka vijiti kwenye mifupa ya mtoto wako
  • Upasuaji wa kurekebisha ulemavu wa mifupa
  • Ushauri wa afya ya akili ili kusaidia kutibu maswala na taswira ya mwili

Mtazamo wa muda mrefu hutofautiana kulingana na aina ya ugonjwa wa brittle mfupa.  Matarajio ya aina nne kuu za ugonjwa wa brittle bone ni:

Aina ya 1 OI

Ikiwa mtoto wako ana aina ya OI ya 1, anaweza kuishi maisha ya kawaida na matatizo machache.

Aina ya 2 OI

Aina ya 2 OI mara nyingi ni mbaya.  Mtoto aliye na aina ya 2 OI anaweza kufia tumboni au muda mfupi baada ya kuzaliwa kutokana na matatizo ya kupumua.

Aina ya 3 OI

Ikiwa mtoto wako ana aina ya 3 OI, anaweza kuwa na ulemavu mkubwa wa mifupa na mara nyingi huhitaji kiti cha magurudumu ili kuzunguka.  Kwa kawaida huwa na muda mfupi wa kuishi kuliko watu walio na aina ya 1 au 4 OI.

Aina ya 4 OI

Ikiwa mtoto wako ana aina ya 4 OI, anaweza kuhitaji magongo ili kutembea.  Walakini, maisha yao ni ya kawaida au karibu na ya kawaida.

Get in touch with us

Love to hear from you