Shin jaririnka yana da matsalar ci gaban kwakwalwa? Koyi game da Holoprosencephaly (HPE)

Kalmomi ba za su iya bayyana farin ciki da ƙaunar da muke ji ba idan muka kalli jariri, ko? Amma wani lokacin, jariranmu na iya zuwa wannan duniyar da matsalolin lafiya waɗanda ba mu yi tsammani ba. A yau, za mu yi magana game da wata nakasa ta haihuwa wadda take da ɗan rikitarwa, amma wacce ya kamata mu sani.

Menene Holoprosencephaly (HPE)?

A taƙaice dai, Holoprosencephaly, wanda aka fi sani da HPE, cuta ce da aka haifa a lokacin da jariri yake cikin mahaifa. Wannan nakasar haihuwa ce. A cikin wannan yanayi, kwakwalwar tayin ba ta rabuwa da kyau zuwa ɓangaren dama da hagu yayin da take tasowa. Shin kun san cewa kwakwalwarmu yawanci tana raba zuwa manyan sassa biyu, ɓangaren dama da ɓangaren hagu. Waɗannan ɓangaren biyu suna da alaƙa da juna kuma suna musayar bayanai ta hanyar tarin zare na jijiyoyi da ake kira corpus callosum. Haka kuma, kowanne daga cikin waɗannan ɓangaren yana raba zuwa wasu sassa, kamar ɓangaren gaba, ɓangaren parietal, ɓangaren occipital, da ɓangaren temporal.

Wannan raba kwakwalwa zuwa sassa yana da matuƙar muhimmanci. Domin wannan raba tana taimaka wa kwakwalwa wajen sarrafa bayanai da yawa a lokaci guda kuma ta yi ayyuka daban-daban. Don haka, kamar yadda yake a yanayin `(HPE)`, idan wannan raba bai faru ba yayin da kwakwalwa ke ci gaba yadda ya kamata, zai iya haifar da matsaloli da dama da suka shafi jiki da tsarin jijiyoyi.

Wannan yanayin, wanda ake kira 'HPE', yana faruwa da wuri a lokacin da tayin ya girma. Wannan yana nufin cewa yana iya kasancewa kafin a san cewa kina da juna biyu. Akwai nau'ikan holoprosencephaly daban-daban, kuma tsananin su da alamominsu sun bambanta. Yadda yanayin ke shafar kowane yaro ma na iya bambanta.

Waɗanne manyan nau'ikan holoprosencephaly (HPE) ne?

Akwai manyan nau'ikan holoprosencephaly guda uku (HPE). Bari mu duba su a jere daga mafi tsanani zuwa mafi tsanani:

Alobar holoprosencephaly

Wannan ita ce nau'in da ya fi tsanani . Abin da ke faruwa a nan shi ne kwakwalwar tayin ba ta rabuwa zuwa dunkule biyu kwata-kwata. Sakamakon haka, tsarin da ke tsakanin kwakwalwa da fuska ya ɓace, kuma ramukan kwakwalwa sun haɗu. Tare da wannan, ana ganin munanan nakasu a fuska. Sau da yawa, jarirai masu irin wannan nau'in `(HPE)` suna mutuwa ko kuma suna mutuwa jim kaɗan bayan haihuwa.

Semilobar holoprosencephaly

A wannan nau'in, kwakwalwar tayin ta rabu kashi biyu ne kawai . Wannan yana faruwa ne saboda gefen hagu na kwakwalwa yana haɗe da gefen dama a yankunan da ake kira "frontal lobes" da kuma "parietal lobes". Haka kuma, layin raba tsakanin gefen dama da hagu na kwakwalwa, wato "interhemispheric fissure," yana nan ne kawai a bayan kwakwalwa.

Lobar holoprosencephaly

A wannan nau'in, kwakwalwar tayi galibi tana kasu kashi biyu a cikin hammata., amma ba a raba su gaba ɗaya ba. Duk da cewa akwai hemispheres guda biyu (dama da hagu), hemispheres na kwakwalwa suna haɗuwa tare a cikin "gaba cortex". Wannan shine mafi ƙarancin tsanani na "`(HPE)``".

Bambancin Tsakiyar Tsakanin Hemispheric (MIH)

Baya ga waɗannan manyan nau'ikan guda uku, akwai wani nau'i na huɗu da ake kira Middle Interhemispheric (MIH). A nan ne kwakwalwar tayi ta haɗu a tsakiya.

Mene ne bambanci tsakanin hydranencephaly da holoprosencephaly?

Wataƙila waɗannan sunaye biyu suna ruɗar da kai. Hydranencephaly da holoprosencephaly duk lahani ne na haihuwa da ke shafar kwakwalwar jariri, amma akwai bambanci tsakanin su biyun.

Rashin isasshen jini (Hydranencephaly) shine asarar wani ɓangare na kwakwalwar jaririnku. Wannan wata cuta ce da ba kasafai ake samunta ba da ake kira hydrocephalus (kan ruwa). Jariran da ke da wannan matsalar galibi suna da babban kai.

Duk da haka, Holoprosencephaly shine lokacin da kwakwalwa ba ta rabu yadda ya kamata zuwa ɓangaren dama da hagu a lokacin matakin tayi ba. Shin kun fahimci wannan bambancin?

Wanene wannan ciwon ke shafar? Yaya ya zama ruwan dare?

Holoprosencephaly (HPE) wata cuta ce da ke shafar tayin da ke tasowa a cikin mahaifa. Yawanci tana faruwa ne a makonni na biyu da na uku na ci gaban tayin. Wannan yana nufin cewa sau da yawa kafin ma ki san kina da juna biyu.

Masu bincike sun kiyasta cewa holoprosencephaly yana shafar kimanin 1 cikin 250 na tayi a lokacin farkon matakin tayi (makonni na biyu da na uku na ciki). Duk da haka, yawancin waɗannan ciki suna ƙarewa ne da zubar da ciki ko kuma haihuwa gawa.

Saboda haka, holoprosencephaly wata cuta ce da ba kasafai ake samu ba a cikin haihuwa mai rai, tana faruwa a cikin kimanin haihuwa 1 cikin 16,000 masu rai.

Mene ne alamun holoprosencephaly (HPE)?

Saboda akwai nau'ikan holoprosencephaly (HPE) daban-daban, tsananin da alamun cutar na iya bambanta sosai. Wannan yana nufin cewa waɗannan alamun na iya bambanta daga yaro zuwa yaro.

Alamomin da aka saba gani

Alamomin da aka fi sani da HPE sun haɗa da:

• Jinkirin ci gaba .
• Nakasa ta hankali.
• Farfadiya da farfadiya.
• Samun ƙaramin kai (microcephaly).
• Samun babban kai (macrocephaly).
• Tarin ruwa mai yawa a cikin kwakwalwa (hydrocephalus).
• Matsalolin fuska .
• Matsalolin hakori (misali, samun incisor guda ɗaya na tsakiya).
• Labe da/ko baki mai tsagewa.
• Wahala wajen sarrafa zafin jiki, bugun zuciya, da numfashi.
• Wahalar cin abinci.

Halaye na Alobar HPE

Wannan nau'in shine mafi tsanani, don haka alamun sun fi tsanani:

• Samun ido ɗaya (cyclopia), samun idanu kusa da juna sosai (ethmocephaly), ko rashin idanu kwata-kwata (aneophthalmia).
• Samun ƙananan ƙwayoyin ido (microphthalmia) da hanci mai kama da bututu (proboscis).
• Hanci mai lebur mai idanu masu rufewa (orbital hypotelorism) ko lebe mai tsagewa wanda ke faruwa a tsakiyar lebe (median cleft lebe) ko a ɓangarorin biyu (bilateral cleft lebe).

Halayen Semilobar HPE

• Idanu masu tazara kusa (orbital hypotelorism), ƙananan ƙwallon ido (microphthalmia), ko idanu ɗaya ko fiye (anophthalmia).
• Faɗin gadar da kuma ƙarshen hanci.
• Hanci ɗaya.
• Lebe mai tsagewa ko lebe mai tsagewa biyu.
• Bakin da ya yi kaca-kaca.

Halaye na Lobar HPE

Wannan nau'in shine mafi ƙarancin tsanani, amma kuna iya ganin waɗannan alamun:

• Lebe mai rabe biyu.
• Kusa da idanu.
• Hanci mai faɗi ko wanda ya nutse.

Wannan yanayin, wanda ake kira holoprosencephaly, yana iya faruwa a matsayin wani ɓangare na cututtuka daban-daban na kwayoyin halitta. Kowace daga cikin waɗannan cututtuka tana da nata alamomi da alamu na musamman.

Me ke haifar da holoprosencephaly (HPE)?

Yawanci, kwakwalwar tayi tana raba zuwa sassan jiki guda biyu tun da wuri. Holoprosencephaly (HPE) yana faruwa ne lokacin da ɓangaren gaba na kwakwalwa, prosencephalon, bai rabu yadda ya kamata zuwa sassan jiki na dama da hagu ba. Wato, maimakon ɓangarorin hagu da dama na ɓangaren gaba na kwakwalwa su rabu gaba ɗaya, akwai wata alaƙa mara kyau tsakanin su biyun.

Musamman, holoprosencephaly na iya faruwa ta hanyar:

• Sauye-sauye suna faruwa a cikin aƙalla kwayoyin halitta 14 daban-daban .
• Matsalolin ƙwayoyin halittar chromosome .
• Wasu cututtukan kwayoyin halitta .

Duk da haka, a lokuta da yawa, likitoci ba za su iya gano ainihin dalilin ba.

Maye gurbi na kwayoyin halitta

Sauyin kwayoyin halitta canji ne a cikin jerin DNA ɗinka. Wannan jerin DNA yana ba ƙwayoyin halittarka bayanai da suke buƙata don yin ayyukansu. Don haka, idan wani ɓangare na jerin DNA bai cika ba ko ya lalace, za ka iya fuskantar alamun yanayin kwayoyin halitta.

Jariri zai iya gadon rikidar kwayoyin halitta daga iyaye ɗaya ko duka biyun, ya danganta da yadda ake yada rikidar. Duk da haka, wasu rikidar kuma suna faruwa ba zato ba tsammani, ma'ana babu wanda ke cikin iyali da ke da tarihin rikidar.

Masana kimiyya sun danganta maye gurbi a cikin kwayoyin halitta masu zuwa da yanayin (HPE):

• 'SHH'
• 'SIXI 3'
• `TGIF1`
• `ZIC2`
• 'PTC1'
• `FOXH1`
• `NODAL`
• `CDON`
• `FGF8`
• `GLI2`

Waɗannan sauye-sauyen suna sa kwayoyin halitta da sunadaran da suke samarwa ba sa aiki yadda ya kamata. Wannan shine abin da ke shafar ci gaban kwakwalwar tayi kuma yana haifar da holoprosencephaly.

Matsalolin ƙwayoyin cuta na chromosome

Duk muna da ƙwayoyin halitta guda 46 a cikin ƙwayoyin halittarmu, waɗanda aka tsara su cikin nau'i-nau'i 23. Waɗannan ƙwayoyin halitta suna ɗauke da DNA ɗinmu. A taƙaice, suna ɗauke da umarnin da jikinmu zai yi girma da aiki. Muna samun ƙwayoyin halitta guda ɗaya daga mahaifiyarmu da kuma guda ɗaya daga mahaifinmu.

Kimanin kashi ɗaya bisa uku na jariran da aka haifa da holoprosencephaly suna da matsalar chromosomal. Matsalar chromosomal da aka fi dangantawa da HPE ita ce kasancewar kwafi uku na chromosome 13, wanda aka sani da trisomy 13. Trisomy 18 (kwafi uku na chromosome 18) da triploidy (kasancewar chromosome 69 a cikin tantanin halitta maimakon 46 na yau da kullun) suma suna iya haifar da HPE.

Cututtukan Halitta

Wani lokaci holoprosencephaly na iya faruwa a matsayin wani ɓangare na wasu cututtukan kwayoyin halitta waɗanda ke haifar da wasu matsalolin lafiya ban da HPE.

Wasu daga cikin cututtukan kwayoyin halitta da ke da alaƙa da HPE sune:

• `(Ciwon Hartsfield)`
• `(Ciwon Kallman na Biyu)`
• `(Ciwon Steinfeld)`
• `(Ciwon Smith-Lemli-Opitz)`
• `(Ciwon Stromme)`

Ta yaya ake gano holoprosencephaly (HPE)?

Likitoci kan iya gano cutar holoprosencephaly (HPE), musamman ma a lokuta masu tsanani, kafin a haifi jariri, ta amfani da na'urar daukar hoton daukar hoto ta zamani kafin haihuwa. Haka kuma ana iya gano cutar a lokacin daukar ciki ta hanyar amfani da na'urar daukar hoton daukar hoto ta MRI (Magnetic Resonance Imaging).

Duk da cewa waɗannan gwaje-gwajen daukar hoton ciki na iya gano HPE, ana gano HPE sau da yawa bayan an haifi jariri , lokacin da matsalolin fuska ko matsalolin jijiyoyi suka fara bayyana. Sannan ana yin gwaje-gwajen daukar hoton kai don tabbatar da ganewar cutar.

Jarirai masu ƙananan nau'ikan holoprosencephaly ba za a iya gano su ba har sai sun kai kimanin shekara ɗaya. A irin waɗannan yanayi, jinkirin ci gaba na iya zama alamar cewa akwai matsala da tsarin jijiyoyi. Daga nan likitoci za su yi odar gwaje-gwajen hoton kwakwalwa.

Gwaje-gwajen Bincike

Likitoci suna amfani da gwaje-gwajen hoto masu zuwa don gano holoprosencephaly bayan an haifi jariri:

• Duban dan tayi a kai: Duban dan tayi (wanda kuma ake kira sonography) gwaji ne na hoto mara zafi, wanda ba shi da haɗari wanda ke amfani da raƙuman sauti masu yawa don samar da hotuna ko bidiyo kai tsaye na kyallen takarda kamar gabobin ciki ko jijiyoyin jini.
• Hoton kwakwalwa na daukar hoton maganadisu (MRI):Duban MRI shima gwaji ne mara zafi. Yana iya yin hotuna masu kyau na tsarin da kyallen da ke cikin kwakwalwar yaronku. MRI yana amfani da babban maganadisu, raƙuman rediyo, da kwamfuta. Ba ya amfani da hasken X-ray (hasken rana).
• Scan ɗin kwamfuta mai kwakwalwa (CT): Scan ɗin CT gwaji ne da ke amfani da hasken X da kwamfuta don ƙirƙirar hotuna masu girma uku (3D) na ɓangaren jikin da ake duba (a wannan yanayin, kan ɗanka da kwakwalwarsa).

Idan zai yiwu, likitoci za su yi nazarin DNA, gami da nazarin chromosomal, gwaje-gwajen cytogenetic da kwayoyin halitta, don tantance ainihin dalilin HPE.

Idan gwajin kwayoyin halitta ya nuna wata matsala ta chromosomal ko ta kwayoyin halitta da ke da alaƙa da holoprosencephaly, likitanka zai iya ba da shawarar ka nemi shawarar kwayoyin halitta idan kana shirin samun wani yaro.

Menene maganin holoprosencephaly (HPE)?

Abin baƙin ciki, a halin yanzu babu magani ko magani mai mahimmanci ga wannan cuta ta holoprosencephaly (HPE). Madadin haka, likitoci suna yi wa kowane yaro magani da HPE bisa ga takamaiman alamun cutar. Wannan yana nufin cewa zaɓuɓɓukan magani sun bambanta daga yaro zuwa yaro.

Wannan maganin na iya buƙatar haɗin gwiwa na ƙungiyar ƙwararru daban-daban, gami da:

• Likitocin yara
• Masana ilimin jijiyoyi
• Masana ilimin halittar jiki (endocrinologists)
• Likitocin tiyata na filastik
• Masu ilimin sana'a da motsa jiki
• Ƙungiyar kula da rage radadi
• Ƙungiyar kulawa mai rikitarwa

Ana iya haɗa irin waɗannan mutane.

Magungunan da aka saba

Ga wasu daga cikin magungunan da aka fi amfani da su don HPE:

• Magungunan hana farfadiya don hana, ragewa, ko kuma sarrafa farfadiya.
• Idan yaronka yana da hydrocephalus, za a iya yi masa magani da ventriculoperitoneal (VP) shunt.
• Magunguna da kuma aikin jiki da kuma motsa jiki na iya taimakawa wajen magance matsalolin motsi kamar taurin tsoka (spasticity) da kuma motsin da ba na son rai ba (dystonia).
• Tiyatar sake gina filastik don cirewar lebe da baki ko wasu siffofi na fuska.
• Magunguna don magance rashin daidaiton hormonal a cikin glandar pituitary.
• Daukar matakai don inganta yawan cin abinci mai gina jiki ga yara masu matsalar abinci. Misali, ciyarwa ta bututu zuwa cikin ciki (bututun gastrostomy - bututun G).

Duk wannan ana yin sa ne domin samar wa yaron da ingantacciyar rayuwa.

Za a iya hana holoprosencephaly (HPE)?

Abin takaici, holoprosencephaly (HPE) yana faruwaBa za a iya hana aukuwar wasu matsaloli da yawa ba. Wannan kuwa saboda galibi matsalolin kwayoyin halitta da aka gada "ɓoyayye" ne ke haifar da su. Idan kuna shirin samun ɗa, yana da kyau ku yi magana da likitanku game da gwajin kwayoyin halitta don fahimtar haɗarin da yaronku ke da shi na kamuwa da yanayin kwayoyin halitta ko maye gurbin kwayoyin halitta da aka gada, kamar HPE.

Duk da haka, masana kimiyya sun gano wasu abubuwan da ke iya haifar da haɗari waɗanda ka iya ƙara yiwuwar cewa tayin zai kamu da holoprosencephaly. Waɗannan sun haɗa da:

• Ciwon suga: Idan kina da ciwon suga na nau'in 1 ko na 2 kafin ki yi ciki, kina iya fuskantar haɗarin kamuwa da cutar HPE. Wannan ba za a rikita shi da ciwon suga na ciki ba, wanda ke faruwa a lokacin daukar ciki.
• Rashin Folate (folic acid): Folate, nau'in bitamin B9 na halitta, yana da mahimmanci ga ci gaban tayin lafiya, musamman kwakwalwa da kashin baya. Rashin Folate kafin da kuma lokacin daukar ciki na iya ƙara haɗarin samun jariri da HPE.
• Fuskantar teratogens: Teratogens abubuwa ne ko abubuwan da ke haifar da matsala ga ci gaban tayin kuma suna haifar da lahani ga haihuwa. Fuskantar teratogens, kamar ethanol (barasa), retinoic acid, da mycotoxins (guba mai guba) daga abinci, na iya ƙara haɗarin haihuwar jariri tare da holoprosencephaly.

Saboda haka, yana da matuƙar muhimmanci a bi salon rayuwa mai kyau, a ci abinci mai kyau, sannan a bi shawarwarin likita a lokacin da kuma kafin a ɗauki ciki.

Menene hasashen holoprosencephaly (HPE)?

Hasashen, ko hasashen, na holoprosencephaly (HPE) ya bambanta dangane da tsananin yanayin da kuma takamaiman dalilin.

Hasashen HPE mai matsakaici zuwa mai tsanani gabaɗaya ba shi da kyau. Yara ƙalilan ne kawai ke da HPE mai matsakaici zuwa mai tsanani da ke rayuwa har zuwa girma. Yara masu HPE mai sauƙi zuwa matsakaici yawanci suna rayuwa har zuwa girma, amma sau da yawa suna rayuwa da matsalolin lafiya da suka shafi HPE.

Yara da yawa da ke fama da holoprosencephaly suna buƙatar magunguna da magunguna na yau da kullun don hana kamuwa da farfadiya da kuma magance wasu matsaloli.

Tsawon rayuwa

Tsawon rayuwar wanda ke fama da holoprosencephaly (HPE) ya dogara ne akan nau'in HPE da yake da shi da kuma dalilin da ya haifar da wannan yanayin.

Jarirai masu fama da Alobar HPE (mafi tsanani) galibi suna mutuwa a matsayin haihuwar da ba a haifa ba, ko dai jim kaɗan bayan haihuwa ko kuma cikin watanni shida na farko na rayuwa.

Fiye da kashi 50% na yara masu fama da cutar HPE ta semilobar ko lobar, kuma ba tare da wasu matsalolin gabobi ba, suna rayuwa na akalla watanni 12.

Yara masu ƙarancin kamuwa da cutar HPE galibi suna rayuwa har zuwa lokacin girma.

Idan jaririyata tana da holoprosencephaly (HPE), me zan zata?

Wannan yana da matuƙar muhimmanci. Ku tuna cewa babu yara biyu da ke fama da holoprosencephaly (HPE) da ke fama da irin wannan matsalar. Babu wata hanyar da za ku san tabbas yadda za ta shafi ɗanku. Mafi kyawun abin da za ku iya yi don shiryawa nan gaba shine ku yi magana da ƙwararru waɗanda ke bincike da kuma magance holoprosencephaly. Za su iya ba ku ƙarin bayani game da wannan.

Ta yaya zan kula da jaririyata mai fama da holoprosencephaly (HPE)?

Domin taimakawa wajen kula da ɗanku da ke fama da holoprosencephaly (HPE), bi waɗannan shawarwarin daga likitocinsu:

• A ba da duk wani magani da aka rubuta kamar yadda aka umarta.
• Duba don kimanta ci gaba da hanyoyin magancewa.
• Tabbatar da halartar duk ziyarar likita ta gaba.

Holoprosencephaly na iya haifar da matsalolin fahimta, jijiyoyi, da/ko motsin jiki. Yara da yawa da ke fama da HPE suna da matsalolin ci gaba kuma suna iya buƙatar taimako tare da ayyukan yau da kullun a tsawon rayuwarsu.

Ƙungiyar likitocin yaranku za su iya amsa tambayoyinku da kuma ba ku tallafi. Haka kuma za su iya tura ku zuwa ga ƙungiyoyin tallafi a yankinku ko kuma ta intanet. Ku tuna cewa ba ku kaɗai ba ne.

Yaushe ya kamata in ga likitan ɗana?

Idan an gano cewa yaronka yana da cutar holoprosencephaly (HPE), zai buƙaci ya riƙa ganin likitocinsa akai-akai don tabbatar da cewa maganinsa yana aiki da kuma tantance ci gaban da yake samu a ci gabansa.

Gano cewa jaririnka yana da cutar holoprosencephaly na iya zama da wahala. Amma ka sani cewa ba kai kaɗai ba ne. Akwai albarkatu da yawa da za su taimaka maka da iyalinka. Yana da mahimmanci ka yi magana da likita wanda ya san wannan yanayin. Wannan zai taimaka maka ka ƙara koyo game da yadda jaririnka zai shafi da kuma yadda za ka shirya don hakan.

A ƙarshe, abubuwan da za a tuna (Saƙon Ɗauka Gida)

Holoprosencephaly (HPE) wata matsala ce ta haihuwa mai rikitarwa wadda ke faruwa lokacin da kwakwalwar jariri ba ta rabu yadda ya kamata zuwa duniyoyi biyu a cikin mahaifa ba.

• Akwai nau'o'i da matakai daban-daban na tsanani , don haka alamun sun bambanta daga yaro zuwa yaro.
• Sau da yawa ana samun dalilai na kwayoyin halitta da kuma rashin daidaituwar ƙwayoyin halitta , amma wani lokacin ba za a iya gano musabbabin ba.
• Ko da yake ana iya gano shi kafin haihuwa ta hanyar amfani da na'urar duban dan tayi ko MRI, sau da yawa ana gano shi ne kawai bayan haihuwa.
• Babu takamaiman magani , amma akwai magunguna daban-daban don magance alamun cutar da kuma tallafawa yaron.
• Ra'ayin ya bambanta dangane da tsananin yanayin. A cikin yanayi masu sauƙi, yara na iya rayuwa har zuwa girma.
• Idan kina da juna biyu ko kuma kina shirin yin ciki, ki yi taka-tsantsan game da abubuwa kamar sarrafa ciwon suga da kuma shan folic acid.
• Ba kai kaɗai ba ne a cikin wannan yanayin. Za ka iya samun taimako daga likitoci, masu ba da shawara, da ƙungiyoyin tallafi. Ingancin bayani da tallafi suna da matuƙar muhimmanci.

Holoprosencephaly , HPE, matsalolin kwakwalwa, lahani na haihuwa, ci gaban tayi, cututtukan kwayoyin halitta, matsalolin chromosomes, lafiyar ciki, lafiyar yara