Fibrodysplasia ossificans progressiva (FOP): menene shi, alamu da magani

Wadatacce

• Babban bayyanar cututtuka
• Abin da ke haifar da fibrodysplasia
• Yadda za a tabbatar da ganewar asali
• Yadda ake yin maganin

Fibrodysplasia ossificans progressiva, wanda aka fi sani da FOP, ci gaban myositis ossificans ko Ciwan mutum, wata cuta ce mai saurin yaduwa wacce ke haifar da laushin laushin jiki, kamar su jijiyoyi, jijiyoyi da tsokoki, yin ossify, zama mai wahala da hana motsin jiki. Bugu da kari, wannan yanayin na iya haifar da canje-canje na jiki.

A mafi yawan lokuta bayyanar cututtukan suna bayyana yayin yarinta, amma canjin kwayoyin halitta zuwa kashi yana ci gaba har zuwa girmanta, shekarun da aka fara tantancewar na iya bambanta. Koyaya, akwai sharuɗɗa da yawa waɗanda, a lokacin haihuwa, jariri tuni yana da nakasar yatsun hannu ko haƙarƙarinsa wanda zai iya sa likitan yara su yi zargin cutar.

Kodayake babu magani ga fibrodysplasia ossificans progressiva, yana da mahimmanci cewa yaro koyaushe yana tare da likitan yara da likitan yara, saboda akwai nau'ikan maganin da zai iya taimakawa don sauƙaƙe wasu alamun, kamar kumburi ko ciwon haɗin gwiwa, inganta ƙimar na rayuwa.

Babban bayyanar cututtuka

Alamomin farko na fibrodysplasia ossificans progressiva yawanci suna bayyana ne jim kadan bayan haihuwa tare da kasancewar nakasassu a cikin yatsun kafa, kashin baya, kafadu, kwatangwalo da gabobi.

Sauran cututtukan suna yawan bayyana har zuwa shekaru 20 kuma sun haɗa da:

• Jan kumburi a cikin jiki, wanda yake ɓacewa amma ya bar ƙashi a wurin;
• Ci gaban ƙashi a wuraren shanyewar jiki;
• Sannu a hankali cikin motsa hannu, hannu, ƙafa ko ƙafa;
• Matsaloli game da zagawar jini a cikin gabobin jiki.

Bugu da kari, gwargwadon yankuna da abin ya shafa, shi ma abu ne na ci gaba da matsalar zuciya ko numfashi, musamman lokacin da cutuka masu nasaba da numfashi suka taso.

Fibrodysplasia ossificans progressiva yawanci yakan shafi wuya da kafadu da farko, sannan ya ci gaba zuwa baya, akwati da wata gabar jiki.

Kodayake cutar na iya haifar da iyakancewa da yawa a kan lokaci kuma ya ragu da ingancin rayuwa, amma yawan rai na da tsawo, saboda galibi babu wata matsala mai tsananin gaske da za ta iya zama barazanar rai.

Abin da ke haifar da fibrodysplasia

Takamaiman dalilin fibrodysplasia ossificans progressiva da tsarin da kyallen takarda ke juyawa zuwa kashi ba a san shi sosai ba, duk da haka, cutar ta samo asali ne saboda maye gurbin kwayar halitta akan chromosome 2. Kodayake wannan maye gurbi na iya wucewa daga iyaye zuwa yara, ya fi yawaita cewa cutar ta bayyana bazuwar.

Kwanan nan, an bayyana karuwar haɓakar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar cuta ta 4 (BMP 4) a cikin fibroblasts da ke cikin farkon raunukan FOP. Furotin na BMP 4 yana kan chromosome 14q22-q23.

Yadda za a tabbatar da ganewar asali

Tunda canjin halitta ne yake haifar dashi kuma babu takamaiman gwajin kwayar halitta don wannan, yawanci likitan yara ne ko likitocin ƙashi suke yin binciken, ta hanyar tantance alamomi da nazarin tarihin asibiti na yaro. Wannan saboda wasu gwaje-gwaje, kamar su biopsy, suna haifar da ƙananan rauni wanda zai haifar da ci gaban kashi a wurin da aka bincika.

Sau da yawa, binciken farko na wannan yanayin shine kasancewar yawan mutane a cikin laushin laushi na jiki, wanda sannu-sannu ya rage girmansa da ossify.

Yadda ake yin maganin

Babu wani nau'i na magani da zai iya warkar da cutar ko hana ci gabanta kuma, sabili da haka, ya zama ruwan dare ga mafi yawan marasa lafiya a keɓe su a cikin keken hannu ko gado bayan shekaru 20 da haihuwa.

Lokacin da cututtukan numfashi suka bayyana, kamar mura ko mura, yana da matukar mahimmanci a je asibiti kai tsaye bayan alamun farko don fara jinya da kuma guje wa faruwar matsaloli masu haɗari a waɗannan gabobin. Bugu da kari, kiyaye tsabtar baki yana kuma kaucewa bukatar maganin hakori, wanda hakan na iya haifar da sabbin rikice-rikicen kashi, wanda zai iya hanzarta kamuwa da cutar.

Kodayake suna da iyaka, yana da mahimmanci a inganta nishaɗi da zamantakewar jama'a ga mutanen da ke fama da cutar, tun da ƙwarewar ilimi da sadarwa suna nan daram da haɓaka.