Ropwayar ƙwayar jijiyoyin jini

Atrophy na jijiyoyin jini (SMA) rukuni ne na rikicewar ƙananan ƙwayoyin cuta (ƙwayoyin motsi). Wadannan rikice-rikicen ana yada su ne ta hanyar dangi (wadanda aka gada) kuma suna iya bayyana a kowane mataki na rayuwa. Rashin lafiyar yana haifar da rauni na tsoka da atrophy.

SMA tarin cututtukan jijiyoyi daban-daban. An haɗu tare, ita ce babbar cuta ta biyu da ke haifar da cututtukan neuromuscular, bayan Duchenne muscular dystrophy.

Yawancin lokaci, dole ne mutum ya sami ingantacciyar kwayar cutar daga iyayen biyu don abin ya shafa. Siffa mafi tsanani shine SMA nau'in I, wanda ake kira Werdnig-Hoffman. Yaran da ke da SMA nau'in II suna da alamun rashin ƙarfi a lokacin ƙuruciya, amma sun zama masu rauni da lokaci. SMA nau'in III ƙananan nau'in cutar ne.

A cikin al'amuran da ba safai ba, SMA yana farawa cikin girma. Wannan shi ne mafi saurin cutar.

Tarihin iyali na SMA a cikin dangi na kusa (kamar ɗan'uwa ko 'yar'uwa) yana da haɗarin haɗari ga kowane irin cuta.

Kwayar cutar SMA sune:

• Yaran da ke da nau'in SMA An haife ni da ƙaramar ƙwayar tsoka, ƙwayoyin tsoka, da matsalar abinci da numfashi.
• Tare da nau'ikan SMA na II, alamun ba zasu iya bayyana ba har zuwa watanni 6 zuwa shekaru 2.
• Nau'in III SMA cuta ce mafi sauƙi wacce take farawa tun yarinta ko samartaka kuma sannu a hankali tana ƙara ta'azzara.
• Nau'in na huɗu ya fi sauƙi, tare da rauni farawa cikin girma.

Sau da yawa, ana fara jin rauni a cikin kafada da ƙwayoyin kafa. Rashin rauni yana daɗa muni a tsawon lokaci kuma ƙarshe ya zama mai tsanani.

Kwayar cututtuka a cikin jariri:

• Matsalar numfashi tare da ƙarancin numfashi da numfashi mai wahala, wanda ke haifar da karancin iskar oxygen
• Matsalar ciyarwa (abinci na iya shiga cikin bututun iska maimakon cikin ciki)
• Floppy jariri (mummunan sautin tsoka)
• Rashin sarrafa kai
• Movementananan motsi
• Rashin rauni wanda ke ƙara muni

Kwayar cututtuka a cikin yaro:

• M, ƙara yawan tsanani cututtuka na numfashi
• Magana ta hanci
• Matsayin da ke kara muni

Tare da SMA, ba a taɓa jijiyoyin da ke kula da ji (jijiyoyi masu ma'ana). Don haka, mutumin da ke da cutar zai iya jin abubuwa daidai.

Mai ba da sabis na kiwon lafiya zai ɗauki tarihi mai kyau kuma ya yi gwajin ƙwaƙwalwa / tsarin juyayi (neurologic) don gano idan akwai:

• Tarihin iyali na cutar neuromuscular
• Tsokoki (flaccid) tsokoki
• Babu zurfin jijiya
• Chesuƙwarar tsokar harshe

Gwajin da za'a iya yin oda sun hada da:

• Gwajin Aldolaseblood
• Erythrocyte sedimentation kudi (ESR)
• Gwajin jini na Creatine phosphate kinase
• Gwajin DNA don tabbatar da asali
• Kayan lantarki (EMG)
• Lactate / pyruvate
• MRI na kwakwalwa, kashin baya, da kashin baya
• Gwajin tsoka
• Nazarin tafiyar da jijiyoyi
• Gwajin jini na amino acid
  
• Gwajin jini mai tayar da hanzarin thyroid (TSH)

Babu magani don warkar da raunin da cutar ta haifar. Taimakon tallafi yana da mahimmanci. Rikicin numfashi sananne ne a cikin mafi tsananin nau'ikan SMA. Don taimakawa numfashi, ana iya buƙatar na'urar ko inji da ake kira mai iska.

Mutanen da ke da SMA suma suna buƙatar sa ido don shaƙa. Wannan saboda tsokar da ke sarrafa haɗiye masu rauni ne.

Jiki na jiki yana da mahimmanci don hana rikicewar tsokoki da jijiyoyi da karkatarwar mahaifa na kashin baya (scoliosis). Ana iya buƙatar takalmin gyaran kafa. Ana iya buƙatar aikin tiyata don gyara nakasar ƙashi, irin su scoliosis.

Magunguna guda biyu da aka yarda dasu kwanan nan don SMA suneonasemnogene abeparvovec-xioi (Zolgensma) da nusinersen (Spinraza) .An yi amfani da waɗannan magungunan don magance wasu nau'ikan SMA. Yi magana da mai kula da lafiyar ka don ganin ko ɗayan waɗannan magunguna sun dace da kai ko ɗanka.

Yaran da ke da nau'in SMA Ba na cika rayuwa fiye da shekaru 2 zuwa 3 saboda matsalolin numfashi da cututtuka. Lokacin rayuwa tare da nau'in na II ya fi tsayi, amma cutar tana kashe yawancin waɗanda suka kamu yayin da suke yara.

Yaran da ke da cutar nau'in III na iya rayuwa har su fara girma. Amma, mutanen da ke da kowane nau'i na cutar suna da rauni da rauni wanda ke daɗa ƙaruwa a kan lokaci. Manya waɗanda suka haɓaka SMA galibi suna da tsammanin rayuwa ta yau da kullun.

Matsalolin da zasu iya haifar da SMA sun haɗa da:

• Buri (abinci da ruwa ya shiga huhu, yana haifar da cutar huhu)
• Ciwan jijiyoyi da jijiyoyi
• Ajiyar zuciya
• Scoliosis

Kira mai ba ku sabis idan yaranku:

• Ya bayyana mai rauni
• Addamar da kowane alamun SMA
• Yana da wahalar ciyarwa

Matsalar numfashi na iya zama saurin gaggawa.

Ana ba da shawara game da kwayar halitta don mutanen da ke da tarihin iyali na SMA waɗanda suke so su haifi yara.

Cutar Werdnig-Hoffmann; Kugelberg-Welander cuta

• Musclesananan tsokoki na baya
• Scoliosis

Fearon C, Murray B, Mitsumoto H. Rashin lafiya na ƙananan ƙananan ƙananan ƙwayoyin cuta. A cikin: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology a cikin Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016: babi na 98.

Haliloglu G. Magungunan tsoka. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi 630.2.

NIH Gidan yanar gizon Gidan Gida. Ropwayar ƙwayar jijiyoyin jini. ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. An sabunta Oktoba 15, 2019. An shiga Nuwamba 5, 2019.