Cutar mutum ta dutse, ko ci gaba ossifying fibrodysplasia (FOP) cuta ce mai wuyar gaske kuma tana cutar da kwayoyin halitta. Tsokoki da jijiyoyi na mutanen da abin ya shafa suna raguwa a hankali: jiki yana kamawa a hankali a cikin matrix na kashi. A halin yanzu babu magani, amma gano kwayar halitta mai laifi ya ba da hanyar bincike mai ban sha'awa.

definition

Progressive ossifying fibrodysplasia (PFO), wanda aka fi sani da sunan cutar mutum dutse, cuta ce mai ratsa jiki mai tsanani. Yana da alaƙa da lahani na mahaifa na manyan yatsun kafa da kuma ci gaba da osskeletal wasu kyawu masu laushi.

Wannan ossification an ce heterotopic: qualitatively al'ada kashi yana samuwa a inda ba ya wanzu, a cikin striated tsokoki, tendons, ligaments da connective tissues da ake kira fascias da aponeuroses. tsokoki na ido, diaphragm, harshe, pharynx, larynx da santsi tsokoki an kiyaye su.

Cutar mutum ta dutse tana ci gaba a cikin tashin hankali, wanda sannu a hankali ya rage motsi da 'yancin kai, yana haifar da ankylosis na gidajen abinci da nakasa.

Sanadin

Halin da ake magana a kai, wanda ke kan chromosome na biyu, an gano shi a cikin Afrilu 2006. Wanda ake kira ACVR1 / ALK2, yana jagorantar samar da mai karɓar furotin wanda abubuwan haɓakar haɓakar ƙashi ke ɗaure. Maye gurbin guda ɗaya - "wasika" ɗaya "kuskure" a cikin ka'idar kwayoyin halitta - ya isa ya haifar da cutar.

A mafi yawan lokuta, wannan maye gurbi yana bayyana kai tsaye kuma ba a ba da shi ga zuriya ba. Duk da haka, an san ƙananan adadin abubuwan gado.

bincike

Bincike ya dogara ne akan gwajin jiki, wanda aka haɓaka ta daidaitattun radiyo masu nuna rashin daidaituwa na kashi. 

Shawarar kwayoyin halitta na likita yana da amfani don amfana daga nazarin kwayoyin halitta na kwayoyin halitta. Wannan zai ba da damar gano maye gurbi da ake magana a kai don cin gajiyar isassun shawarwarin kwayoyin halitta. Lalle ne, idan classic siffofin wannan Pathology suna ko da yaushe nasaba da guda maye gurbi, atypical siffofin hade tare da sauran maye gurbi zama zai yiwu.

Har yanzu ba a samu gwajin ciki ba.

Mutanen da abin ya shafa

FOP yana shafar ƙasa da ɗaya cikin mutane miliyan 2 a duk duniya (cututtuka 2500 da aka gano bisa ga Ƙungiyar FOP Faransa), ba tare da bambancin jima'i ko ƙabila ba. A Faransa, mutane 89 sun damu a yau.

Alamomin cutar suna ci gaba da farawa. 

Lalacewar manyan yatsu

A lokacin haihuwa, yara suna da al'ada sai dai kasancewar rashin lafiyar mahaifa na manyan yatsun kafa. Mafi sau da yawa, waɗannan gajeru ne kuma sun karkace a ciki ("ƙarya hallux valgus"), saboda rashin lafiyar da ke shafar metatarsal na 1st, dogon kashin ƙafar ƙafa yana bayyana tare da phalanx na farko.

Ana iya haɗa wannan tabarbarewar tare da mono phalangism; wani lokacin ma, wannan ita ce kawai alamar cutar. 

Tura

Ci gaba da ciwon tsokoki da jijiyoyi gabaɗaya suna faruwa a cikin shekaru ashirin na farko na rayuwa, biyo bayan ci gaba daga jiki na sama zuwa ƙasa kuma daga baya zuwa fuska ta gaba. Suna gaba da bayyanar da yawa ko žasa mai wuya, mai zafi da kumburi mai kumburi. Wadannan kumburin kumburi na iya haifar da rauni ta hanyar rauni (rauni ko girgiza kai tsaye), alluran intramuscular, kamuwa da kwayar cuta, mikewar tsoka, ko ma gajiya ko damuwa.

Sauran anomalies

Rashin ƙasusuwan ƙashi kamar rashin samar da kashi mara kyau a cikin gwiwoyi ko haɗuwa da kashin mahaifa wani lokaci yana bayyana a farkon shekaru.

Rashin ji yana iya fitowa daga balaga.

Juyin Halitta

Samuwar "kwarangwal na biyu" a hankali yana rage motsi. Bugu da ƙari, rikitarwa na numfashi na iya bayyana sakamakon ci gaba da ossification na intercostal da baya tsokoki da nakasa. Rashin motsi kuma yana ƙara haɗarin abubuwan thromboembolic (phlebitis ko embolism na huhu).

Matsakaicin tsammanin rayuwa yana kusa da shekaru 40.

A halin yanzu, babu maganin warkewa. Gano kwayar halittar da ake magana a kai, duk da haka, ya ba da damar babban ci gaba a cikin bincike. Masu binciken suna binciko wata hanya ta warkewa ta musamman, wacce za ta ba da damar yin shiru da maye gurbi ta hanyar amfani da fasahar RNA mai shiga tsakani.

Magungunan Symptomatic

A cikin sa'o'i 24 na farko na fashewa, ana iya fara babban maganin corticosteroid. An gudanar da shi na kwanaki 4, yana iya ba da wasu taimako ga marasa lafiya ta hanyar rage yawan kumburi da kumburi da aka gani a farkon matakan cutar.

Maganganun zafi da masu kwantar da hankali na tsoka na iya taimakawa tare da ciwo mai tsanani.

Taimakon haƙuri

Dole ne a aiwatar da duk abubuwan da ake buƙata na ɗan adam da na fasaha don ba da damar mutanen da ke fama da cutar ta dutse don kiyaye matsakaicin ikon kai da kuma haɗa kai da ilimi sannan kuma masu sana'a.

Abin takaici, hana fara FOP ba zai yiwu ba. Amma ana iya daukar matakan kariya don dakile ci gabanta.

Prophylaxis na sake dawowa

Ilimi da gyare-gyaren muhalli yakamata su kasance da nufin hana rauni da faɗuwa. Ana iya ba da shawarar sanya kwalkwali ga yara ƙanana. 

Mutanen da ke fama da cutar mutum dutse su ma su guji kamuwa da cututtukan ƙwayoyin cuta kuma su yi taka tsantsan da tsaftar haƙora, saboda cutar da haƙori na iya haifar da kumburi.

Duk wata hanya ta likita mai cin zarafi (biopsies, hanyoyin tiyata, da sauransu) an hana su sai dai a cikin matsanancin larura. Hakanan ba a cire allurar cikin tsoka (alurar rigakafi, da sauransu).

Magungunan jiki

Ƙaddamar da jiki ta hanyar motsi mai laushi yana taimakawa wajen yaki da asarar motsi. Musamman, gyaran wuraren wanka na iya zama da amfani.

Hakanan dabarun horar da numfashi suna da amfani wajen hana tabarbarewar numfashi.

Sauran matakan

• Kula da ji
• Rigakafin phlebitis (tagayen gaɓoɓin ƙafafu lokacin kwance, safa mai matsewa, aspirin kaɗan bayan balaga)