Achondroplasia a zahiri shine nau'in chondrodyplasia na musamman, ko dai wani nau'i ne na ƙuntatawa da / ko tsawaita gabobi. Wannan cuta tana halin:

- rhizomelia: wanda ke shafar tushen gabobin jiki, ko cinya ko hannu;

-hyper-lordosis: jaddada karkacewar dorsal;

- brachydactyly: ƙananan ƙananan girman girman yatsun hannu da / ko yatsun kafa;

- macrocephaly: babban girman girman kusurwar mahaifa;

- hypoplasia: jinkirin haɓakar nama da / ko gabobin jiki.

A ƙabilanci, achondroplasia na nufin "ba tare da samuwar guringuntsi ba". Wannan guringuntsi abu ne mai wuya amma mai sassauƙa wanda ya ƙunshi wani ɓangare na abun da ke cikin kwarangwal. Duk da haka, a cikin wannan ilimin cututtukan, ba tambaya ce ta mummunan samuwar matakin guringuntsi ba amma na matsala a cikin ossification (samuwar ƙasusuwa). Wannan ya fi shafar dogon kasusuwa, kamar hannaye da kafafu.

Abubuwan da achondroplasia ya shafa sun shaida ƙaramin gini. Matsakaicin tsayin mutumin da ke da achondroplasia shine 1,31 m yayin da mace mara lafiya shine 1,24 m.

Siffofin musamman na cutar suna haifar da girman gangar jikin, amma ƙaramin girman hannu da ƙafa. Sabanin haka, macrocephaly gabaɗaya yana da alaƙa, wanda aka ayyana ta hanyar faɗaɗa keɓaɓɓiyar mahaifa, musamman goshi. Yatsun waɗannan marasa lafiya galibi ƙanana ne tare da rarrabuwar kai na tsakiyar yatsa, wanda ke haifar da sifar hannun trident.

Akwai wasu matsalolin kiwon lafiya waɗanda za a iya danganta su da achondroplasia. Wannan lamari ne na musamman game da cututtukan cututtukan numfashi tare da numfashi wanda ake ganin yana raguwa ta hanzari tare da lokutan apnea. Bugu da ƙari, kiba da ciwon kunne galibi ana alakanta su da cutar. Hakanan ana iya ganin matsalolin postural (hyper-lordosis).

Matsaloli masu yuwuwar na iya tasowa, kamar stenosis na kashin baya, ko ƙuntatawa canal na kashin baya. Wannan yana haifar da matsawa na kashin baya. Wadannan rikitarwa yawanci alamun ciwo, rauni a kafafu da tingling sensations.

A cikin ƙaramin mita, bayyanar hydrocephalus (matsanancin ƙwayar jijiya) yana yiwuwa. (2)

Cuta ce da ba kasafai ake samun ta ba, wanda yawan ta (yawan lokuta a cikin yawan mutanen da aka bayar a lokaci guda) shine 1 a cikin haihuwa 15. (000)

Ana nuna alamun asibiti na achondroplasia yayin haihuwa ta:

- ƙananan girman ƙananan ƙafa tare da rhizomelia (lalacewar tushen gabobin);

- babban girman girman gangar jikin;

- girman da ba a saba da shi ba na kusurwar cranial: macrocephaly;

- hypoplasia: jinkirin haɓakar nama da / ko gabobin jiki.

Jinkiri a cikin dabarun motsa jiki shima yana da mahimmanci na ilimin cuta.

Wasu sakamakon na iya haɗawa, kamar su baccin bacci, kamuwa da kunne mai maimaitawa, matsalolin ji, haɓakar hakora, thoracolumbar kyphosis (nakasa na kashin baya).

A cikin mawuyacin hali na cutar, matsawa na kashin baya na iya kasancewa yana da alaƙa da shi yana haifar da yanayin apnea, jinkiri a ci gaba da alamun pyramidal (duk rikicewar dabarun motsi). Bugu da ƙari, hydrocephalus kuma yana iya haifar da raunin jijiyoyin jiki da cututtukan zuciya.

Mutanen da ke da cutar suna da matsakaicin tsayi na 1,31 m ga maza da 1,24 m ga mata.

Bugu da kari, ana samun kiba sosai a cikin waɗannan marasa lafiya. (1)

Asalin achondroplasia asalin halitta ne.

Lallai ci gaban wannan cuta yana faruwa ne daga maye gurbi a cikin jigon FGFR3. Wannan kwayar halittar tana ba da damar ƙirƙirar furotin wanda ke cikin haɓakawa da daidaita ƙashi da ƙwayar kwakwalwa.

Akwai takamaiman maye gurbi guda biyu a cikin wannan kwayar halitta. A cewar masanan, waɗannan maye gurbi da ake tambaya suna haifar da kunna furotin da yawa, yana yin katsalandan ga ci gaban kwarangwal kuma yana haifar da nakasa na kashi. (2)

Cutar tana yaduwa ta hanyar tsarin sarrafa kansa. Ko kuma, cewa ɗaya daga cikin kwafi guda biyu na juzu'in juzu'in juzu'in sha'awa ya isa ga batun don haɓaka yanayin rashin lafiya mai alaƙa. Marasa lafiya tare da achondroplasia sai su gaji kwafin juzu'in FGFR3 da aka canza daga ɗayan iyayen marasa lafiya biyu.

Ta wannan hanyar watsawa, saboda haka akwai haɗarin 50% na watsa cutar ga zuriya. (1)

Mutanen da suka gaji kwafin juzu'in juzu'i guda ɗaya na sha'awar sha'awa suna haifar da mummunan yanayin cutar wanda ke haifar da rauni mai ƙarfi da ƙuntata kashi. Waɗannan marasa lafiya galibi ana haife su da wuri kuma suna mutuwa ba da daɗewa ba bayan haihuwa daga gazawar numfashi. (2)

Abubuwan da ke haifar da cutar sune kwayoyin halitta.

A zahiri, ana kamuwa da cutar ta hanyar canzawar madaidaiciyar madaidaiciya da ta shafi jigon FGFR3.

Wannan ƙa'idar watsawa tana nuna cewa kasancewar musamman keɓaɓɓiyar kwafin kwayar halittar da aka canza ta isa ga ci gaban cutar.

A wannan ma'anar, mutum ɗaya daga cikin iyayensa biyu da ke fama da wannan cutar yana da haɗarin 50% na gadon mutun ɗin da aka canza, don haka kuma yana haɓaka cutar.

Sanin cutar shine farkon bambancin. Lallai, idan aka yi la’akari da halaye daban-daban na zahiri: rhizomelia, hyper-lordosis, brachydactyly, macrocephaly, hypoplasia, da sauransu likita na iya hasashen cutar a cikin batun.

An haɗa shi da wannan ganewar farko, gwajin kwayoyin halitta yana ba da damar haskaka yiwuwar kasancewar halittar FGFR3 da aka canza.

Maganin cutar yana farawa tare da rigakafin sakamakon. Wannan yana taimakawa hana ci gaban rikitarwa, wanda zai iya zama mai mutuwa, a cikin marasa lafiya da achondroplasia.

Yin tiyata don hydrocephalus sau da yawa ya zama dole a cikin jarirai. Bugu da ƙari, ana iya yin wasu hanyoyin tiyata don tsawaita gabobin jiki.

Ciwon kunne, ciwon kunne, matsalolin ji, da sauransu ana magance su da isasshen magani.

Bayar da darussan maganin magana na iya zama da amfani ga wasu batutuwa marasa lafiya.

Adenotonsillectomy (cire kumburi da adenoids) ana iya yinsa a cikin maganin bacci.

Ƙara zuwa waɗannan jiyya da tiyata, ana ba da shawarar kulawa da abinci da abinci ga yara marasa lafiya.

Tsawon rayuwar marasa lafiya ya ɗan ragu kaɗan fiye da tsawon rayuwar jama'a. Bugu da ƙari, haɓaka rikitarwa, musamman na zuciya da jijiyoyin jini, na iya samun mummunan sakamako a kan mahimmancin hangen nesa na marasa lafiya. (1)