Achondroplasia: Sanadinsa, Ciwon Cutar kansa, Ciwon Gano da Jiyyarsa

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Karka Rasa

Gida Lafiya Rashin lafiya yana warkarwa Cutar Cutar oi-Shivangi Karn Ta Shivangi Karn a kan Satumba 13, 2019

Achondroplasia wata cuta ce ta kashin jini wanda ke da alaƙa da dwarfism mai gajeriyar gaɓa [1] . A cikin Achondroplasia, akwai wani abu mai kamala da guringuntsi wanda yake shafar ƙashin kashin mutum kuma ya sanya su wani dodo mai gajerun gaɓoɓi da babban kai.





Achondroplasia: Sanadinsa, Ciwon Cutar kansa, Ciwon Gano da Jiyyarsa

Matsakaicin tsayin girman mazajen achondroplasia ƙafa 4 ne, inci 4 yayin da mata suke da ƙafa 4, inci 1 [biyu] . Matsayinsu na hankali abu ne na yau da kullun kuma ɗabi'ar dwarfism a cikin iyaye yawanci ana amfani da ita ga 'ya'yansu. Koyaya, yana iya faruwa ga mutanen da ba su da tarihin dwarfism a cikin danginsu saboda wasu maye gurbi. Achondroplasia yana daga cikin tsofaffin sanannun lahani na haihuwa kuma yawanta shine 1 a cikin 15000 - 35000 haihuwa.

Abin da ke haifar da Achondroplasia

Ana kiran Achondroplasia a matsayin babbar cuta ta autosomal. Zai iya shafar maza da mata. Kwayar halitta mai suna FGFR3 [3] shine ke da alhakin ci gaban kasusuwa da kyallen kwakwalwa a jikin mu. Saboda wasu nau'ikan maye gurbi guda biyu a cikin wannan kwayar halittar, tsarin ci gaban kashi yana rikicewa har ya kai mutum ga cutar achondroplasia.



Idan aƙalla kwayar cutar FGFR3 mai nakasa guda ɗaya ta wuce zuwa ga ɗa daga ɗayan iyayen, yaron zai iya haɓaka halayen dwarfism. Koyaya, wani rahoto ya ce kashi 80% na mutane sun kamu da cutar sakamakon sabon maye gurbi da aka samu a cikin iyali wanda ba shi da tarihin dwarfism.

mafi kyawun mai don tausa gashi

Kwayar cutar Achondroplasia

Kowane yaro mai cutar achondroplasia na iya fuskantar alamomi daban-daban. Koyaya, alamu na yau da kullun na yanayin sune kamar haka:

1. Gajeren hannaye, kafafu da yatsu



2. Guntun gajere fiye da talakawan mutane [4]

3. Manyan kawuna a kwatankwacin jikinsu

4. owedananan ƙafa [biyu]

5. Lordosis, yanayin da ƙananan ƙashin baya ke lankwasa

6. Gajerun kafafu madaidaiciya

7. Hannun Trident, babban fili tsakanin yatsun tsakiya da zobe

wasannin dare ga manya

8. Apnea, jinkirin numfashi ko dakatarwar numfashi kwatsam

9. Kiba

10. Ciwon kunne wanda yake yawan faruwa [5]

11. Jinkirta cikin ayyukan mota

12. Hydrocephalus, ruwa a kwakwalwa [6]

Ganewar asali na Achondroplasia

Ana iya bincikar Achondroplasia ta hanyoyi guda biyu waɗanda suke kamar haka:

  • Ganewar asali yayin daukar ciki: A lokacin duban dan tayi, duk wata rashin lafiyar (babban kai ko gajeren gabobi) a tayin ana iya gano ta cikin sauki daga kwararren likita. Idan sun yi zargin yanayin, ana yin gwajin kwayoyin ne ta hanyar daukar samfurin ruwa daga mahaifar mahaifiya [7] .
  • Ganewar asali bayan ciki: Idan an haifi yaro tare da achondroplasia, ana iya gano yanayin cikin sauƙi ta ƙwararren masani. Ana yin odar gwajin X-ray don gano tsawon ƙasusuwan yaron [8] .

Jiyya na Achondroplasia

Mutanen da ke da cutar achondroplasia na iya rayuwa ta yau da kullun. Koyaya, yara da ke cikin yanayin suna buƙatar kulawa da yawa na likita da kulawa don haɓakar jiki da ta hankali. Magungunan sune kamar haka:

  • Yin aikin tiyata na kashin baya, idan ya yi kunci sosai [9]
  • Yin tiyata idan akwai matsalar matsawa ta kashin baya
  • Yin aikin tiyata don gyara ƙafafun da aka sunkuyar
  • Tiyata don hana hydrocephalus, ruwa a cikin kwakwalwa [6]
  • Maganin rigakafi don ciwon kunne [5]
  • Madaidaita hakora idan har akwai hakora [10]
  • Hormone na girma, amma wannan har yanzu bai tabbatar da tasiri ba
Duba Rubutun Magana
  1. [1]Pauli, R. M., & Legare, J. M. (2018). Achondroplasia. A cikin GeneReviews® [Intanet]. Jami'ar Washington, Seattle.
  2. [biyu]2. Merker, A., Neumeyer, L., Hertel, N. T., Grigelioniene, G., Mäkitie, O., Mohnike, K., & Hagenäs, L. (2018). Girma a cikin achondroplasia: Ci gaban tsayi, nauyi, kewayon kai, da ƙididdigar yawan mutane a cikin rukunin Turai. Jaridar Amurka ta Kimiyyar Halittar Jiki Sashi na A, 176 (8), 1723-1734.
  3. [3]Ornitz, D. M., & Legeai-Mallet, L. (2017). Achondroplasia: ci gaba, yanayin cuta, da farfadowa. Ci gaban haɓaka, 246 (4), 291-309.
  4. [4]Pauli, R. M. (2019). Achondroplasia: cikakken nazarin asibiti. Littafin marayu na cututtukan cututtuka, 14 (1), 1.
  5. [5]Jung, J., Yang, C., Lee, S., & Choi, J. (2013). Ossiculoplasty mai sassauci a cikin Halin 1 na Achondroplasia. Jaridar Koriya ta ilimin jiwuwa, 17 (3), 142.
  6. [6]Pierre-Kahn, A., Hirsch, J. F., Renier, D., Metzger, J., & Maroteaux, P. (1980). Hydrocephalus da achondroplasia. Neurosurgery na yara, 7 (4), 205-219.
  7. [7]De Pellegrin, M., & Moharamzadeh, D. (2008). Binciken duban dan tayi a cikin achondroplasia. Jaridar Pediatric Orthopedics, 28 (4), 427-431.
  8. [8]Huggins, M. J., Smith, J. R., Chun, K., Ray, P. N., Shah, J. K., & Whelan, D. T. (1999). Achondroplasia – hypochondroplasia hadaddun a cikin jariri sabon haihuwa. Jaridar Amurkawa game da ilimin halittar jini, 84 (5), 396-400.
  9. [9]Sciubba, D. M., Noggle, JC, Marupudi, N. I., Bagley, C. A., Bookland, M. J., Carson, B. S., ... & Jallo, G. I. (2007). Yin aikin tiyata na cikin gida a cikin marasa lafiyar yara tare da achondroplasia. Jaridar Neurosurgery: Ilimin aikin likita na yara, 106 (5), 372-378.
  10. [10]Al-Saleem, A., & Al-Jobair, A. (2010). Achondroplasia: Bayyananniyar halittar jiki da kuma la'akari da kula da hakori. Jaridar hakori ta Saudiyya, 22 (4), 195-199.

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