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Ingaba umntwana wakho unengxaki yokukhula kwengqondo? Funda ngeHoloprosencephaly (HPE)

Ingaba umntwana wakho unengxaki yokukhula kwengqondo? Funda ngeHoloprosencephaly (HPE)

Amazwi awanakuchaza uvuyo nothando esiluvayo xa sijonga usana olusandul’ ukuzalwa, akunjalo? Kodwa ngamanye amaxesha, iintsana zethu zinokuza kweli hlabathi zineengxaki zempilo esingazilindelanga. Namhlanje, siza kuthetha ngesiphene sokuzalwa esinzima kancinci, kodwa esifanele sisiqaphele.

Yintoni iHoloprosencephaly (HPE)?

Ngamafutshane, iHoloprosencephaly, eyaziwa ngokuba yiHPE, yimeko yokuzalwa eyenzeka ngelixa umntwana esesesibelekweni. Esi sisiphene sokuzalwa. Kule meko, ingqondo yomntwana ongekazalwa ayihlukani kakuhle ibe zii-hemispheres zasekunene nezasekhohlo njengoko ikhula. Ubusazi na ukuba ingqondo yethu idla ngokwahlulwahlulwa ibe ziinxalenye ezimbini eziphambili, i-hemisphere yasekunene kunye ne-hemisphere yasekhohlo. Ezi hemispheres zimbini zidibene kwaye zitshintshiselana ngolwazi ngenqwaba yee-nerve fibers ezibizwa ngokuba yi-corpus callosum. Kwakhona, nganye kwezi hemispheres yahlulwe ibe ziinxalenye ezithile, njenge-frontal lobe, i-parietal lobe, i-occipital lobe, kunye ne-temporal lobe.

Olu hluhlu lobuchopho lube ngamacandelo lubaluleke kakhulu. Kuba olu hluhlu lunceda ingqondo ukuba isebenzise ulwazi oluninzi ngaxeshanye kwaye yenze imisebenzi eyahlukeneyo. Ngoko ke, njengakwimeko ye-`(HPE)`, ukuba olu hluhlu aluveli ngelixa ingqondo ikhula kakuhle, lunokubangela iingxaki ezininzi ezinxulumene nenkqubo yomzimba neyemithambo-luvo.

Le meko, ebizwa ngokuba yi-'HPE', yenzeka kwangethuba kakhulu ekukhuleni komntwana ongekazalwa. Oku kuthetha ukuba kusenokwenzeka nangaphambi kokuba wazi ukuba ukhulelwe. Kukho iintlobo ezahlukeneyo ze-holoprosencephaly, kwaye ubunzima kunye neempawu zazo ziyahluka. Indlela le meko echaphazela ngayo umntwana ngamnye inokwahluka.

Ziziphi iintlobo eziphambili ze-holoprosencephaly (HPE)?

Kukho iintlobo ezintathu eziphambili ze-holoprosencephaly (HPE). Makhe sizijonge ngokulandelelana kwazo, ukusuka kwezona zinzima ukuya kwezona zimbi kakhulu:

I-holoprosencephaly ye-Alobar

Olu lolona hlobo lunzima kakhulu . Okwenzekayo apha kukuba ingqondo yemveku ayihlukani ibe zii-hemispheres ezimbini kwaphela. Ngenxa yoko, izakhiwo eziphakathi kwengqondo nobuso ziyalahleka, kwaye imingxuma yengqondo iyadibana. Kunye noku, kubonakala ukukhubazeka okukhulu kobuso. Rhoqo, abantwana abanolu hlobo lwe-`(HPE)` bazalwa befile okanye bafe emva nje kokuzalwa.

I-Semilobar holoprosencephaly

Kolu hlobo, ingqondo yomntwana ongekazalwa yahlulwe kancinci yaba zii-hemispheres ezimbini . Oku kwenzeka kuba icala lasekhohlo lobuchopho liqhagamshelwe kwicala lasekunene kwiindawo ezibizwa ngokuba yi-"frontal lobes" kunye ne-"parietal lobes". Kwakhona, umgca owahlula phakathi kwe-hemispheres yasekunene neyasekhohlo yobuchopho, i-"interhemispheric fissure," isemva kwengqondo kuphela.

I-holoprosencephaly yeLobar

Kule hlobo, ingqondo yengane engekazalwa yahlulwe kakhulu yaba zii-hemispheres ezimbini., kodwa azikahlulwa ngokupheleleyo. Nangona kukho ii-hemispheres ezimbini (ekunene nasekhohlo), ii-hemispheres zobuchopho zidibene kwi-"frontal cortex". Olu lolona hlobo luncinci kakhulu lwe-``(HPE)``.

Uhlobo lweMiddle Interhemispheric (MIH)

Ukongeza kwezi ntlobo zintathu ziphambili, kukho uhlobo lwesine olubizwa ngokuba yi-Middle Interhemispheric (MIH). Kulapho ingqondo yemveku idityaniswe khona embindini.

Yintoni umahluko phakathi kwe-hydranencephaly kunye ne-holoprosencephaly?

Usenokubhideka ngala magama mabini. I-Hydranencephaly kunye ne-holoprosencephaly zombini ziziphene zokuzalwa ezichaphazela ingqondo yomntwana, kodwa kukho umahluko phakathi kwazo zombini.

I-Hydranencephaly kukulahlekelwa yinxalenye yengqondo yomntwana wakho. Esi sisifo esingaqhelekanga esibizwa ngokuba yi-hydrocephalus (intloko yamanzi). Iintsana ezinale meko zihlala zinentloko ekhulisiweyo.

Nangona kunjalo, iHoloprosencephaly iyenzeka xa ingqondo ingahlukani kakuhle ibe zii-hemispheres zasekunene nezasekhohlo ngexesha lesigaba somntwana osandul’ ukuzalwa. Ngaba uyayiqonda loo mahluko?

Ichaphazela bani le meko? Ixhaphake kangakanani?

IHoloprosencephaly (HPE) yimeko echaphazela iimveku ezikhula esibelekweni. Idla ngokuvela kwiiveki zesibini nezesithathu zokukhula komntwana ongekazalwa. Oku kuthetha ukuba rhoqo ngaphambi kokuba wazi nokuba ukhulelwe.

Abaphandi baqikelela ukuba i-holoprosencephaly ichaphazela malunga ne-1 kwi-250 yeemveku ngexesha lesigaba sokuqala sokukhulelwa (kwiveki yesibini neyesithathu yokukhulelwa). Nangona kunjalo, uninzi lwezi kukhulelwa luphela ngokuphuphuma kwesisu okanye ukuzalwa komntwana eswelekile.

Ngoko ke, i-holoprosencephaly yimeko engaqhelekanga ekuzalweni okuphilayo, eyenzeka malunga nomntwana omnye kwabayi-16,000 abazalwa bephila.

Zithini iimpawu ze-holoprosencephaly (HPE)?

Ngenxa yokuba kukho iintlobo ezahlukeneyo ze-holoprosencephaly (HPE), ubunzima kunye neempawu zinokuhluka kakhulu. Oku kuthetha ukuba ezi mpawu zinokuhluka ukusuka komnye umntwana ukuya komnye.

Iimpawu eziqhelekileyo

Iimpawu eziqhelekileyo ezinxulumene ne-HPE ziquka:

  • Ukulibaziseka kophuhliso.
  • Ukukhubazeka kwengqondo.
  • Isifo sokuwa kunye nokuxhuzula.
  • Ukuba nentloko encinci (i-microcephaly).
  • Ukuba nentloko enkulu (i-macrocephaly).
  • Ukuqokelelana kolwelo olugqithisileyo engqondweni (i-hydrocephalus).
  • Iingxaki zobuso .
  • Iingxaki zamazinyo (umzekelo, ukuba ne-central incisor enye).
  • Umlomo oqhekekileyo kunye/okanye inkalakahla.
  • Ubunzima ekulawuleni ubushushu bomzimba, isantya sentliziyo, kunye nokuphefumla.
  • Ubunzima bokutya.

Iimpawu ze-Alobar HPE

Olu lolona hlobo lunzima kakhulu, ngoko ke iimpawu zinzima ngakumbi:

  • Ukuba neliso elinye (i-cyclopia), ukuba namehlo asondelelene kakhulu (i-ethmocephaly), okanye ukungabi namehlo konke konke (i-anophthalmia).
  • Ukuba neengqayi zamehlo ezincinci kakhulu (i-microphthalmia) kunye nempumlo efana nombhobho (i-proboscis).
  • Impumlo ethe tyaba enamehlo aqinileyo (i-orbital hypotelorism) okanye imilebe eqhekekileyo eyenzeka embindini womlomo (i-median cleft lip) okanye kumacala omabini (i-bilateral cleft lip).

Iimpawu zeSemilobar HPE

  • Amehlo akufutshane (i-orbital hypotelorism), iibhola zamehlo ezincinci kakhulu (i-microphthalmia), okanye iliso elinye okanye ngaphezulu (i-anophthalmia).
  • Ukuthamba kwebhulorho kunye nencam yempumlo.
  • Impumlo enye.
  • Umlebe ophakathi okanye umlebe ophakathi.
  • Impumlo eqhekekileyo.

Iimpawu zeLobar HPE

Olu lolona hlobo lubi kakhulu, kodwa ungazibona ezi mpawu:

  • Umlebe oqhekekileyo omacala omabini.
  • Ukusondela kwamehlo.
  • Impumlo ethe tyaba okanye etshonileyo.

Le meko, ebizwa ngokuba yi-holoprosencephaly, inokubakho njengenxalenye yezifo ezahlukeneyo zemfuza. Isifo ngasinye sineempawu zaso ezizodwa.

Yintoni ebangela i-holoprosencephaly (HPE)?

Ngokwesiqhelo, ingqondo yemveku yahlulwe yaba zii-hemispheres ezimbini kwasekuqaleni kokukhula. I-Holoprosencephaly (HPE) yenzeka xa inxalenye engaphambili yobuchopho, i-prosencephalon, ingahlukani kakuhle ibe zii-hemispheres zasekunene nezasekhohlo. Oko kukuthi, endaweni yokuba amacala asekhohlo nasekunene enxalenye engaphambili yobuchopho ahlukane ngokupheleleyo, kukho unxibelelwano olungaqhelekanga phakathi kwezi zimbini.

Ngokukodwa, i-holoprosencephaly inokubangelwa yi:

  • Utshintsho lwendalo lwenzeka kwiijini ezahlukeneyo ezili-14 ubuncinane .
  • Ukungasebenzi kakuhle kwe-chromosome .
  • Ezinye izifo zemfuza .

Nangona kunjalo, kwiimeko ezininzi, oogqirha abakwazi ukufumana unobangela ochanekileyo.

Utshintsho lwemfuza

Utshintsho lwemfuza lutshintsho kulandelelwano lweDNA yakho. Olu landelelwano lweDNA lunika iiseli zakho ulwazi eziludingayo ukuze zenze imisebenzi yazo. Ngoko ke, ukuba inxalenye yolandelelwano lweDNA ayiphelelanga okanye yonakele, unokufumana iimpawu zesifo semfuza.

Usana lunokuzuza inguqu yemfuza kumzali omnye okanye bobabini, kuxhomekeke kwindlela olu tshintsho oludluliselwa ngayo. Nangona kunjalo, ezinye iinguqu zenzeka ngokungacwangciswanga, nto leyo ethetha ukuba akukho mntu kusapho unembali yotshintsho.

Izazinzulu zidibanise utshintsho olukwizakhi zofuzo ezilandelayo nale meko (HPE):

  • `SHH`
  • `SIX3`
  • `TGIF1`
  • `ZIC2`
  • `PTCH1`
  • `FOXH1`
  • `I-NODAL`
  • `I-CDON`
  • `FGF8`
  • `GLI2`

Olu tshintsho lwenzeka lubangela ukuba ii-genes kunye neeproteni ezizivelisayo zingasebenzi kakuhle. Yiyo le nto ichaphazela uphuhliso lwengqondo yomntwana ongekazalwa kwaye ibangele i-holoprosencephaly.

Ukungaqheleki kwe-chromosome

Sonke sinee-chromosomes ezingama-46 kwiiseli zethu, ezihlelwe ngababini abangama-23. Ezi chromosomes zithwala i-DNA yethu. Ngamafutshane, ziqulathe imiyalelo yokuba imizimba yethu ikhule kwaye isebenze. Sifumana iseti enye yee-chromosomes kumama wethu kunye neseti enye kutata wethu.

Malunga nesinye kwisithathu seentsana ezizalwa zine-holoprosencephaly zine-chromosome engaqhelekanga. I-chromosome engaqhelekanga edla ngokunxulunyaniswa ne-HPE kukubakho kweekopi ezintathu ze-chromosome 13, eyaziwa ngokuba yi-trisomy 13. I-Trisomy 18 (iikopi ezintathu ze-chromosome 18) kunye ne-triploidy (ubukho bee-chromosomes ezingama-69 kwiseli endaweni ye-46 eqhelekileyo) nazo zinokubangela i-HPE.

Iimpawu zofuzo

Ngamanye amaxesha i-holoprosencephaly inokwenzeka njengenxalenye yezifo ezithile zemfuza ezibangela ezinye iingxaki zonyango ukongeza kwi-HPE.

Ezinye zezifo zemfuza ezinxulumene ne-HPE zezi:

  • `(Isifo sikaHartsfield)`
  • `(Isifo seKallman sesibini)`
  • `(Isifo sikaSteinfeld)`
  • `(Isifo sikaSmith-Lemli-Opitz)`
  • `(Isifo seStromme)`

Ifunyanwa njani i-holoprosencephaly (HPE)?

Oogqirha badla ngokuxilonga i-holoprosencephaly (HPE), ingakumbi iimeko ezinzima, ngaphambi kokuba umntwana azalwe, besebenzisa i-ultrasound scan ngaphambi kokuzalwa. Le meko ingaxilongwa nakwi-fetal MRI (Magnetic Resonance Imaging) scan ngaphambi kokuzalwa.

Nangona ezi mvavanyo zokuthathwa kwemifanekiso ngaphambi kokukhulelwa zinokubona i-HPE, i-HPE idla ngokufunyaniswa emva kokuba umntwana ezelwe , xa kuvela iingxaki zobuso okanye iingxaki zemithambo-luvo. Emva koko kwenziwa iimvavanyo zokuthathwa kwemifanekiso yentloko ukuqinisekisa ukuxilongwa.

Iintsana ezineentlobo ze-holoprosencephaly ezibuthathaka kakhulu zisenokungafunyaniswa ukuba zinesifo de zibe nonyaka ubudala. Kwiimeko ezinjalo, ukulibaziseka kokukhula kungaba ngumqondiso wokuba kunokubakho ingxaki kwinkqubo yemithambo-luvo. Oogqirha baya kuyalela uvavanyo lokujonga ubuchopho.

Uvavanyo lokuxilonga

Oogqirha basebenzisa olu vavanyo lwemifanekiso lulandelayo ukufumanisa i-holoprosencephaly emva kokuba umntwana ezelwe:

  • I-Ultrasound yentloko: I-Ultrasound (ekwabizwa ngokuba yi-sonography) luvavanyo lomfanekiso olungenabuhlungu, olungangenisi ntlungu olusebenzisa amaza esandi aqhelekileyo ukuvelisa imifanekiso ephilayo okanye iividiyo zezicubu ezifana nezitho zangaphakathi okanye imithambo yegazi.
  • Iskeni yobuchopho ye-magnetic resonance imaging (MRI):I-MRI scan ikwaluvavanyo olungenabuhlungu. Inokwenza imifanekiso ecacileyo yezakhiwo kunye nezicubu ezikwingqondo yomntwana wakho. I-MRI isebenzisa imagnethi enkulu, amaza erediyo, kunye nekhompyutha. Ayisebenzisi ii-X-ray (imitha).
  • I-Head computed tomography (CT) scan: I-CT scan luvavanyo olusebenzisa ii-X-rays kunye nekhompyutha ukwenza imifanekiso emininzi ye-three-dimensional (3D) yelungu lomzimba elihlolwayo (kule meko, intloko nengqondo yomntwana wakho).

Ukuba kunokwenzeka, oogqirha baya kwenza izifundo ze-DNA, kuquka uhlalutyo lwe-chromosome, uvavanyo lwe-cytogenetic kunye ne-molecular, ukuze kuchongwe unobangela ochanekileyo we-HPE.

Ukuba uvavanyo lwemfuza lubonisa ingxaki ye-chromosome okanye yemfuza enxulumene ne-holoprosencephaly, ugqirha wakho unokucebisa ukuba ufune iingcebiso zemfuza ukuba uceba ukuba nomnye umntwana.

Ziziphi iindlela zonyango lwe-holoprosencephaly (HPE)?

Okubuhlungu kukuba, okwangoku akukho nyango okanye unyango olukhulu lwesifo i-holoprosencephaly (HPE). Endaweni yoko, oogqirha banyanga umntwana ngamnye nge-HPE ngokusekelwe kwiimpawu zakhe ezithile. Oku kuthetha ukuba iindlela zonyango ziyahluka kumntwana ngamnye.

Olu nyango lunokufuna imizamo edibeneyo yeqela leengcali ezahlukeneyo, kuquka:

  • Iingcali zezingane
  • Iingcali ze-Neurology
  • Iingcali ze-Endocrinologists
  • Iingcali zotyando lweplastiki
  • Iingcali zonyango zomsebenzi kunye nezomzimba
  • Iqela lokhathalelo lwentlungu
  • Iqela lokhathalelo oluyinkimbinkimbi

Abantu abanjalo banokubandakanywa.

Unyango oluqhelekileyo

Nazi ezinye zezona ndlela zonyango ezisetyenziswa kakhulu kwi-HPE:

  • Amayeza okulwa nokuxhuzula okuthintela, ukunciphisa, okanye ukulawula ukuxhuzula.
  • Ukuba umntwana wakho une-hydrocephalus, unokunyangelwa nge-ventriculoperitoneal (VP) shunt.
  • Amayeza kunye nonyango lomsebenzi kunye nolwe-physiotherapy lunokunceda kwiingxaki zokunyakaza ezifana nokuqina kwemisipha (ukuxinezeleka) kunye neentshukumo ezingafunekiyo (i-dystonia).
  • Utyando lokwakha ngokutsha imilebe eqhekekileyo kunye nenkalakahla okanye ezinye iimpawu zobuso.
  • Amayeza okunyanga ukungalingani kwamahomoni kwi-pituitary gland.
  • Ukuthatha amanyathelo okuphucula ukutya okunesondlo kubantwana abanengxaki yokondla. Umzekelo, ukondla ngetyhubhu ukuya esiswini (ityhubhu ye-gastrostomy - ityhubhu ye-G).

Konke oku kwenzelwa ukubonelela umntwana ngobomi obusemgangathweni kangangoko.

Ngaba i-holoprosencephaly (HPE) ingathintelwa?

Ngelishwa, i-holoprosencephaly (HPE) iyenzekaAmatyala amaninzi awanakuthintelwa. Oku kungenxa yokuba adla ngokubangelwa ziingxaki zemfuza "ezifihliweyo" ezizuzwe njengelifa. Ukuba uceba ukuba nomntwana, licebo elihle ukuthetha nogqirha wakho malunga novavanyo lwemfuza ukuze uqonde umngcipheko womntwana wakho wokuba nesifo semfuza okanye ukuguqulwa kwemfuza okuzuzwe njengelifa, njenge-HPE.

Nangona kunjalo, izazinzulu zichonge ezinye izinto ezinokubangela umngcipheko ezinokwandisa amathuba okuba umntwana ongekazalwa abe ne-holoprosencephaly. Ezi ziquka:

  • Ukuba nesifo seswekile: Ukuba ubunesifo seswekile sohlobo 1 okanye uhlobo 2 ngaphambi kokuba ukhulelwe, usenokuba sengozini enkulu yokuba nomntwana one-HPE. Oku akufanele kubhidaniswe nesifo seswekile sokukhulelwa, esenzeka ngexesha lokukhulelwa.
  • Ukunqongophala kwe-folate (i-folic acid): I-folate, uhlobo lwendalo lwe-vitamin B9, ibalulekile ekuphuhlisweni okunempilo kwe-fetus, ingakumbi ingqondo kunye nomqolo. Ukunqongophala kwe-folate ngaphambi nangexesha lokukhulelwa kunokunyusa umngcipheko wokuba nomntwana one-HPE.
  • Ukuvezwa kwi-teratogens: Ii-Teratogens zizinto okanye izinto ezibangela iingxaki ekukhuleni komntwana ongekazalwa kwaye zikhokelela kwiziphene zokuzalwa. Ukuvezwa kwi-teratogens, ezifana ne-ethanol (utywala), i-retinoic acid, kunye ne-mycotoxins (ityhefu yesikhunta) ekutyeni, kunokunyusa umngcipheko wokuba nomntwana one-holoprosencephaly.

Kungoko ke, kubaluleke kakhulu ukulandela indlela yokuphila enempilo, ukutya ukutya okunesondlo, kunye nokulandela iingcebiso zonyango ngexesha nangaphambi kokukhulelwa.

Ithini ingqikelelo ye-holoprosencephaly (HPE)?

Imbono, okanye i-prognosis, ye-holoprosencephaly (HPE) iyahluka ngokuxhomekeke kubukhali bemeko kunye nesizathu esithile.

Imbono ye-HPE ephakathi ukuya kweqatha ngokubanzi ayintle. Bambalwa kakhulu abantwana abane-HPE ephakathi ukuya kweqatha abasindayo bade babe badala. Abantwana abane-HPE engaphantsi ukuya kweqatha badla ngokusinda bade babe badala, kodwa badla ngokuphila neengxaki zempilo ezinxulumene ne-HPE.

Abantwana abaninzi abane-holoprosencephaly bafuna amayeza kunye nonyango lwemihla ngemihla ukuthintela ukuxhuzula kunye nokunyanga ezinye iingxaki.

Izinto ozilindile emhlabane

Ubungakanani bobomi bomntu one-holoprosencephaly (HPE) buxhomekeke kuhlobo lwe-HPE anayo kunye nesizathu esiyintloko sale meko.

Iintsana ezine-Alobar HPE (uhlobo olubi kakhulu) zihlala zifa njengeemveku ezizelwe zifile, nokuba emva nje kokuzalwa okanye kwiinyanga ezintandathu zokuqala zobomi.

Ngaphezulu kwama-50% abantwana abane-semilobar okanye i-lobar HPE, kwaye bengenazo ezinye iingxaki zomzimba, baphila ubuncinane iinyanga ezili-12.

Abantwana abaneengxaki ezincinci ze-HPE badla ngokuphila ubomi babo bonke baze babe badala.

Ukuba umntwana wam une-holoprosencephaly (HPE), ndimele ndilindele ntoni?

Oku kubaluleke kakhulu. Khumbula ukuba akukho bantwana babini abane-holoprosencephaly (HPE) abachaphazeleka ngendlela efanayo. Akukho ndlela yokwazi ngokuqinisekileyo ukuba umntwana wakho uza kuchaphazeleka njani. Eyona nto ingcono onokuyenza ukulungiselela ikamva kukuthetha neengcali eziphanda kwaye zinyange i-holoprosencephaly. Banokukunika ulwazi oluthe kratya malunga noku.

Ndingamnyamekela njani umntwana wam one-holoprosencephaly (HPE)?

Ukuze uncede ukhathalele umntwana wakho one-holoprosencephaly (HPE), landela la macebiso avela koogqirha bakhe:

  • Nika nayiphi na imithi echazwe ngugqirha njengoko kuyalelwe.
  • Jonga uvavanyo lophuhliso kunye nonyango.
  • Qiniseka ukuba uyaya kuzo zonke iityelelo zonyango ezilandelayo.

I-Holoprosencephaly inokubangela iingxaki zengqondo, ze-neurologic, kunye/okanye ze-motor. Abantwana abaninzi abane-HPE baneengxaki zokukhula kwaye banokufuna uncedo ngemisebenzi yemihla ngemihla ebomini babo bonke.

Iqela lezonyango lomntwana wakho linokukuphendula imibuzo yakho kwaye likunike inkxaso. Banokukwalathisa kumaqela enkxaso kwindawo okuyo okanye kwi-intanethi. Khumbula ukuba awuwedwa.

Ndifanele ndimbone nini ugqirha womntwana wam?

Ukuba umntwana wakho ufunyaniswe ene-holoprosencephaly (HPE), kuya kufuneka abone iqela lakhe lezonyango rhoqo ukuqinisekisa ukuba unyango lwakhe luyasebenza kwaye ahlole inkqubela yakhe yokukhula.

Ukufumanisa ukuba umntwana wakho une-holoprosencephaly kunokuba nzima ukumelana nayo. Kodwa yazi ukuba awuwedwa. Kukho izixhobo ezininzi ezifumanekayo zokukunceda wena nosapho lwakho. Kubalulekile ukuthetha nogqirha onolwazi ngale meko. Oku kuya kukunceda ufunde ngakumbi ngendlela umntwana wakho aza kuchaphazeleka ngayo kunye nendlela yokuyilungiselela.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

IHoloprosencephaly (HPE) sisiphene esintsonkothileyo sokuzalwa esenzeka xa ingqondo yomntwana ingahlukani kakuhle ibe zii-hemispheres ezimbini esibelekweni.

  • Kukho iintlobo ezahlukeneyo kunye namanqanaba obunzima , ngoko ke iimpawu ziyahluka kumntwana ngamnye.
  • Kudla ngokubakho izizathu zemfuza kunye nokuphazamiseka kwe-chromosome , kodwa ngamanye amaxesha unobangela awufumaneki.
  • Nangona inokubonwa ngaphambi kokuzalwa nge-ultrasound okanye i-MRI, idla ngokubonwa kuphela emva kokuzalwa.
  • Akukho nyango luthile , kodwa kukho iindlela ezahlukeneyo zonyango zokulawula iimpawu nokuxhasa umntwana.
  • Imbono iyahluka ngokuxhomekeke kubukhulu bemeko. Kwiimeko ezincinci, abantwana banokuphila baze babe ngabantu abadala.
  • Ukuba ukhulelwe okanye uceba ukukhulelwa, lumka ngezinto ezifana nokulawula isifo sakho seswekile kunye nokuthatha i-folic acid.
  • Awuwedwa kule meko. Ungafumana uncedo koogqirha, abacebisi, kunye namaqela enkxaso. Ulwazi oluchanekileyo kunye nenkxaso zibaluleke kakhulu.

I- Holoprosencephaly, i-HPE, iingxaki zobuchopho, iziphene zokuzalwa, uphuhliso losana olungekazalwa, izifo zemfuza, ukungaqheleki kwe-chromosome, impilo yokukhulelwa, impilo yomntwana

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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Ingaba umntwana wakho unengxaki yokukhula kwengqondo? Funda ngeHoloprosencephaly (HPE)

Ingaba umntwana wakho unengxaki yokukhula kwengqondo? Funda ngeHoloprosencephaly (HPE)

Amazwi awanakuchaza uvuyo nothando esiluvayo xa sijonga usana olusandul’ ukuzalwa, akunjalo? Kodwa ngamanye amaxesha, iintsana zethu zinokuza kweli hlabathi zineengxaki zempilo esingazilindelanga. Namhlanje, siza kuthetha ngesiphene sokuzalwa esinzima kancinci, kodwa esifanele sisiqaphele.

Yintoni iHoloprosencephaly (HPE)?

Ngamafutshane, iHoloprosencephaly, eyaziwa ngokuba yiHPE, yimeko yokuzalwa eyenzeka ngelixa umntwana esesesibelekweni. Esi sisiphene sokuzalwa. Kule meko, ingqondo yomntwana ongekazalwa ayihlukani kakuhle ibe zii-hemispheres zasekunene nezasekhohlo njengoko ikhula. Ubusazi na ukuba ingqondo yethu idla ngokwahlulwahlulwa ibe ziinxalenye ezimbini eziphambili, i-hemisphere yasekunene kunye ne-hemisphere yasekhohlo. Ezi hemispheres zimbini zidibene kwaye zitshintshiselana ngolwazi ngenqwaba yee-nerve fibers ezibizwa ngokuba yi-corpus callosum. Kwakhona, nganye kwezi hemispheres yahlulwe ibe ziinxalenye ezithile, njenge-frontal lobe, i-parietal lobe, i-occipital lobe, kunye ne-temporal lobe.

Olu hluhlu lobuchopho lube ngamacandelo lubaluleke kakhulu. Kuba olu hluhlu lunceda ingqondo ukuba isebenzise ulwazi oluninzi ngaxeshanye kwaye yenze imisebenzi eyahlukeneyo. Ngoko ke, njengakwimeko ye-`(HPE)`, ukuba olu hluhlu aluveli ngelixa ingqondo ikhula kakuhle, lunokubangela iingxaki ezininzi ezinxulumene nenkqubo yomzimba neyemithambo-luvo.

Le meko, ebizwa ngokuba yi-'HPE', yenzeka kwangethuba kakhulu ekukhuleni komntwana ongekazalwa. Oku kuthetha ukuba kusenokwenzeka nangaphambi kokuba wazi ukuba ukhulelwe. Kukho iintlobo ezahlukeneyo ze-holoprosencephaly, kwaye ubunzima kunye neempawu zazo ziyahluka. Indlela le meko echaphazela ngayo umntwana ngamnye inokwahluka.

Ziziphi iintlobo eziphambili ze-holoprosencephaly (HPE)?

Kukho iintlobo ezintathu eziphambili ze-holoprosencephaly (HPE). Makhe sizijonge ngokulandelelana kwazo, ukusuka kwezona zinzima ukuya kwezona zimbi kakhulu:

I-holoprosencephaly ye-Alobar

Olu lolona hlobo lunzima kakhulu . Okwenzekayo apha kukuba ingqondo yemveku ayihlukani ibe zii-hemispheres ezimbini kwaphela. Ngenxa yoko, izakhiwo eziphakathi kwengqondo nobuso ziyalahleka, kwaye imingxuma yengqondo iyadibana. Kunye noku, kubonakala ukukhubazeka okukhulu kobuso. Rhoqo, abantwana abanolu hlobo lwe-`(HPE)` bazalwa befile okanye bafe emva nje kokuzalwa.

I-Semilobar holoprosencephaly

Kolu hlobo, ingqondo yomntwana ongekazalwa yahlulwe kancinci yaba zii-hemispheres ezimbini . Oku kwenzeka kuba icala lasekhohlo lobuchopho liqhagamshelwe kwicala lasekunene kwiindawo ezibizwa ngokuba yi-"frontal lobes" kunye ne-"parietal lobes". Kwakhona, umgca owahlula phakathi kwe-hemispheres yasekunene neyasekhohlo yobuchopho, i-"interhemispheric fissure," isemva kwengqondo kuphela.

I-holoprosencephaly yeLobar

Kule hlobo, ingqondo yengane engekazalwa yahlulwe kakhulu yaba zii-hemispheres ezimbini., kodwa azikahlulwa ngokupheleleyo. Nangona kukho ii-hemispheres ezimbini (ekunene nasekhohlo), ii-hemispheres zobuchopho zidibene kwi-"frontal cortex". Olu lolona hlobo luncinci kakhulu lwe-``(HPE)``.

Uhlobo lweMiddle Interhemispheric (MIH)

Ukongeza kwezi ntlobo zintathu ziphambili, kukho uhlobo lwesine olubizwa ngokuba yi-Middle Interhemispheric (MIH). Kulapho ingqondo yemveku idityaniswe khona embindini.

Yintoni umahluko phakathi kwe-hydranencephaly kunye ne-holoprosencephaly?

Usenokubhideka ngala magama mabini. I-Hydranencephaly kunye ne-holoprosencephaly zombini ziziphene zokuzalwa ezichaphazela ingqondo yomntwana, kodwa kukho umahluko phakathi kwazo zombini.

I-Hydranencephaly kukulahlekelwa yinxalenye yengqondo yomntwana wakho. Esi sisifo esingaqhelekanga esibizwa ngokuba yi-hydrocephalus (intloko yamanzi). Iintsana ezinale meko zihlala zinentloko ekhulisiweyo.

Nangona kunjalo, iHoloprosencephaly iyenzeka xa ingqondo ingahlukani kakuhle ibe zii-hemispheres zasekunene nezasekhohlo ngexesha lesigaba somntwana osandul’ ukuzalwa. Ngaba uyayiqonda loo mahluko?

Ichaphazela bani le meko? Ixhaphake kangakanani?

IHoloprosencephaly (HPE) yimeko echaphazela iimveku ezikhula esibelekweni. Idla ngokuvela kwiiveki zesibini nezesithathu zokukhula komntwana ongekazalwa. Oku kuthetha ukuba rhoqo ngaphambi kokuba wazi nokuba ukhulelwe.

Abaphandi baqikelela ukuba i-holoprosencephaly ichaphazela malunga ne-1 kwi-250 yeemveku ngexesha lesigaba sokuqala sokukhulelwa (kwiveki yesibini neyesithathu yokukhulelwa). Nangona kunjalo, uninzi lwezi kukhulelwa luphela ngokuphuphuma kwesisu okanye ukuzalwa komntwana eswelekile.

Ngoko ke, i-holoprosencephaly yimeko engaqhelekanga ekuzalweni okuphilayo, eyenzeka malunga nomntwana omnye kwabayi-16,000 abazalwa bephila.

Zithini iimpawu ze-holoprosencephaly (HPE)?

Ngenxa yokuba kukho iintlobo ezahlukeneyo ze-holoprosencephaly (HPE), ubunzima kunye neempawu zinokuhluka kakhulu. Oku kuthetha ukuba ezi mpawu zinokuhluka ukusuka komnye umntwana ukuya komnye.

Iimpawu eziqhelekileyo

Iimpawu eziqhelekileyo ezinxulumene ne-HPE ziquka:

  • Ukulibaziseka kophuhliso.
  • Ukukhubazeka kwengqondo.
  • Isifo sokuwa kunye nokuxhuzula.
  • Ukuba nentloko encinci (i-microcephaly).
  • Ukuba nentloko enkulu (i-macrocephaly).
  • Ukuqokelelana kolwelo olugqithisileyo engqondweni (i-hydrocephalus).
  • Iingxaki zobuso .
  • Iingxaki zamazinyo (umzekelo, ukuba ne-central incisor enye).
  • Umlomo oqhekekileyo kunye/okanye inkalakahla.
  • Ubunzima ekulawuleni ubushushu bomzimba, isantya sentliziyo, kunye nokuphefumla.
  • Ubunzima bokutya.

Iimpawu ze-Alobar HPE

Olu lolona hlobo lunzima kakhulu, ngoko ke iimpawu zinzima ngakumbi:

  • Ukuba neliso elinye (i-cyclopia), ukuba namehlo asondelelene kakhulu (i-ethmocephaly), okanye ukungabi namehlo konke konke (i-anophthalmia).
  • Ukuba neengqayi zamehlo ezincinci kakhulu (i-microphthalmia) kunye nempumlo efana nombhobho (i-proboscis).
  • Impumlo ethe tyaba enamehlo aqinileyo (i-orbital hypotelorism) okanye imilebe eqhekekileyo eyenzeka embindini womlomo (i-median cleft lip) okanye kumacala omabini (i-bilateral cleft lip).

Iimpawu zeSemilobar HPE

  • Amehlo akufutshane (i-orbital hypotelorism), iibhola zamehlo ezincinci kakhulu (i-microphthalmia), okanye iliso elinye okanye ngaphezulu (i-anophthalmia).
  • Ukuthamba kwebhulorho kunye nencam yempumlo.
  • Impumlo enye.
  • Umlebe ophakathi okanye umlebe ophakathi.
  • Impumlo eqhekekileyo.

Iimpawu zeLobar HPE

Olu lolona hlobo lubi kakhulu, kodwa ungazibona ezi mpawu:

  • Umlebe oqhekekileyo omacala omabini.
  • Ukusondela kwamehlo.
  • Impumlo ethe tyaba okanye etshonileyo.

Le meko, ebizwa ngokuba yi-holoprosencephaly, inokubakho njengenxalenye yezifo ezahlukeneyo zemfuza. Isifo ngasinye sineempawu zaso ezizodwa.

Yintoni ebangela i-holoprosencephaly (HPE)?

Ngokwesiqhelo, ingqondo yemveku yahlulwe yaba zii-hemispheres ezimbini kwasekuqaleni kokukhula. I-Holoprosencephaly (HPE) yenzeka xa inxalenye engaphambili yobuchopho, i-prosencephalon, ingahlukani kakuhle ibe zii-hemispheres zasekunene nezasekhohlo. Oko kukuthi, endaweni yokuba amacala asekhohlo nasekunene enxalenye engaphambili yobuchopho ahlukane ngokupheleleyo, kukho unxibelelwano olungaqhelekanga phakathi kwezi zimbini.

Ngokukodwa, i-holoprosencephaly inokubangelwa yi:

  • Utshintsho lwendalo lwenzeka kwiijini ezahlukeneyo ezili-14 ubuncinane .
  • Ukungasebenzi kakuhle kwe-chromosome .
  • Ezinye izifo zemfuza .

Nangona kunjalo, kwiimeko ezininzi, oogqirha abakwazi ukufumana unobangela ochanekileyo.

Utshintsho lwemfuza

Utshintsho lwemfuza lutshintsho kulandelelwano lweDNA yakho. Olu landelelwano lweDNA lunika iiseli zakho ulwazi eziludingayo ukuze zenze imisebenzi yazo. Ngoko ke, ukuba inxalenye yolandelelwano lweDNA ayiphelelanga okanye yonakele, unokufumana iimpawu zesifo semfuza.

Usana lunokuzuza inguqu yemfuza kumzali omnye okanye bobabini, kuxhomekeke kwindlela olu tshintsho oludluliselwa ngayo. Nangona kunjalo, ezinye iinguqu zenzeka ngokungacwangciswanga, nto leyo ethetha ukuba akukho mntu kusapho unembali yotshintsho.

Izazinzulu zidibanise utshintsho olukwizakhi zofuzo ezilandelayo nale meko (HPE):

  • `SHH`
  • `SIX3`
  • `TGIF1`
  • `ZIC2`
  • `PTCH1`
  • `FOXH1`
  • `I-NODAL`
  • `I-CDON`
  • `FGF8`
  • `GLI2`

Olu tshintsho lwenzeka lubangela ukuba ii-genes kunye neeproteni ezizivelisayo zingasebenzi kakuhle. Yiyo le nto ichaphazela uphuhliso lwengqondo yomntwana ongekazalwa kwaye ibangele i-holoprosencephaly.

Ukungaqheleki kwe-chromosome

Sonke sinee-chromosomes ezingama-46 kwiiseli zethu, ezihlelwe ngababini abangama-23. Ezi chromosomes zithwala i-DNA yethu. Ngamafutshane, ziqulathe imiyalelo yokuba imizimba yethu ikhule kwaye isebenze. Sifumana iseti enye yee-chromosomes kumama wethu kunye neseti enye kutata wethu.

Malunga nesinye kwisithathu seentsana ezizalwa zine-holoprosencephaly zine-chromosome engaqhelekanga. I-chromosome engaqhelekanga edla ngokunxulunyaniswa ne-HPE kukubakho kweekopi ezintathu ze-chromosome 13, eyaziwa ngokuba yi-trisomy 13. I-Trisomy 18 (iikopi ezintathu ze-chromosome 18) kunye ne-triploidy (ubukho bee-chromosomes ezingama-69 kwiseli endaweni ye-46 eqhelekileyo) nazo zinokubangela i-HPE.

Iimpawu zofuzo

Ngamanye amaxesha i-holoprosencephaly inokwenzeka njengenxalenye yezifo ezithile zemfuza ezibangela ezinye iingxaki zonyango ukongeza kwi-HPE.

Ezinye zezifo zemfuza ezinxulumene ne-HPE zezi:

  • `(Isifo sikaHartsfield)`
  • `(Isifo seKallman sesibini)`
  • `(Isifo sikaSteinfeld)`
  • `(Isifo sikaSmith-Lemli-Opitz)`
  • `(Isifo seStromme)`

Ifunyanwa njani i-holoprosencephaly (HPE)?

Oogqirha badla ngokuxilonga i-holoprosencephaly (HPE), ingakumbi iimeko ezinzima, ngaphambi kokuba umntwana azalwe, besebenzisa i-ultrasound scan ngaphambi kokuzalwa. Le meko ingaxilongwa nakwi-fetal MRI (Magnetic Resonance Imaging) scan ngaphambi kokuzalwa.

Nangona ezi mvavanyo zokuthathwa kwemifanekiso ngaphambi kokukhulelwa zinokubona i-HPE, i-HPE idla ngokufunyaniswa emva kokuba umntwana ezelwe , xa kuvela iingxaki zobuso okanye iingxaki zemithambo-luvo. Emva koko kwenziwa iimvavanyo zokuthathwa kwemifanekiso yentloko ukuqinisekisa ukuxilongwa.

Iintsana ezineentlobo ze-holoprosencephaly ezibuthathaka kakhulu zisenokungafunyaniswa ukuba zinesifo de zibe nonyaka ubudala. Kwiimeko ezinjalo, ukulibaziseka kokukhula kungaba ngumqondiso wokuba kunokubakho ingxaki kwinkqubo yemithambo-luvo. Oogqirha baya kuyalela uvavanyo lokujonga ubuchopho.

Uvavanyo lokuxilonga

Oogqirha basebenzisa olu vavanyo lwemifanekiso lulandelayo ukufumanisa i-holoprosencephaly emva kokuba umntwana ezelwe:

  • I-Ultrasound yentloko: I-Ultrasound (ekwabizwa ngokuba yi-sonography) luvavanyo lomfanekiso olungenabuhlungu, olungangenisi ntlungu olusebenzisa amaza esandi aqhelekileyo ukuvelisa imifanekiso ephilayo okanye iividiyo zezicubu ezifana nezitho zangaphakathi okanye imithambo yegazi.
  • Iskeni yobuchopho ye-magnetic resonance imaging (MRI):I-MRI scan ikwaluvavanyo olungenabuhlungu. Inokwenza imifanekiso ecacileyo yezakhiwo kunye nezicubu ezikwingqondo yomntwana wakho. I-MRI isebenzisa imagnethi enkulu, amaza erediyo, kunye nekhompyutha. Ayisebenzisi ii-X-ray (imitha).
  • I-Head computed tomography (CT) scan: I-CT scan luvavanyo olusebenzisa ii-X-rays kunye nekhompyutha ukwenza imifanekiso emininzi ye-three-dimensional (3D) yelungu lomzimba elihlolwayo (kule meko, intloko nengqondo yomntwana wakho).

Ukuba kunokwenzeka, oogqirha baya kwenza izifundo ze-DNA, kuquka uhlalutyo lwe-chromosome, uvavanyo lwe-cytogenetic kunye ne-molecular, ukuze kuchongwe unobangela ochanekileyo we-HPE.

Ukuba uvavanyo lwemfuza lubonisa ingxaki ye-chromosome okanye yemfuza enxulumene ne-holoprosencephaly, ugqirha wakho unokucebisa ukuba ufune iingcebiso zemfuza ukuba uceba ukuba nomnye umntwana.

Ziziphi iindlela zonyango lwe-holoprosencephaly (HPE)?

Okubuhlungu kukuba, okwangoku akukho nyango okanye unyango olukhulu lwesifo i-holoprosencephaly (HPE). Endaweni yoko, oogqirha banyanga umntwana ngamnye nge-HPE ngokusekelwe kwiimpawu zakhe ezithile. Oku kuthetha ukuba iindlela zonyango ziyahluka kumntwana ngamnye.

Olu nyango lunokufuna imizamo edibeneyo yeqela leengcali ezahlukeneyo, kuquka:

  • Iingcali zezingane
  • Iingcali ze-Neurology
  • Iingcali ze-Endocrinologists
  • Iingcali zotyando lweplastiki
  • Iingcali zonyango zomsebenzi kunye nezomzimba
  • Iqela lokhathalelo lwentlungu
  • Iqela lokhathalelo oluyinkimbinkimbi

Abantu abanjalo banokubandakanywa.

Unyango oluqhelekileyo

Nazi ezinye zezona ndlela zonyango ezisetyenziswa kakhulu kwi-HPE:

  • Amayeza okulwa nokuxhuzula okuthintela, ukunciphisa, okanye ukulawula ukuxhuzula.
  • Ukuba umntwana wakho une-hydrocephalus, unokunyangelwa nge-ventriculoperitoneal (VP) shunt.
  • Amayeza kunye nonyango lomsebenzi kunye nolwe-physiotherapy lunokunceda kwiingxaki zokunyakaza ezifana nokuqina kwemisipha (ukuxinezeleka) kunye neentshukumo ezingafunekiyo (i-dystonia).
  • Utyando lokwakha ngokutsha imilebe eqhekekileyo kunye nenkalakahla okanye ezinye iimpawu zobuso.
  • Amayeza okunyanga ukungalingani kwamahomoni kwi-pituitary gland.
  • Ukuthatha amanyathelo okuphucula ukutya okunesondlo kubantwana abanengxaki yokondla. Umzekelo, ukondla ngetyhubhu ukuya esiswini (ityhubhu ye-gastrostomy - ityhubhu ye-G).

Konke oku kwenzelwa ukubonelela umntwana ngobomi obusemgangathweni kangangoko.

Ngaba i-holoprosencephaly (HPE) ingathintelwa?

Ngelishwa, i-holoprosencephaly (HPE) iyenzekaAmatyala amaninzi awanakuthintelwa. Oku kungenxa yokuba adla ngokubangelwa ziingxaki zemfuza "ezifihliweyo" ezizuzwe njengelifa. Ukuba uceba ukuba nomntwana, licebo elihle ukuthetha nogqirha wakho malunga novavanyo lwemfuza ukuze uqonde umngcipheko womntwana wakho wokuba nesifo semfuza okanye ukuguqulwa kwemfuza okuzuzwe njengelifa, njenge-HPE.

Nangona kunjalo, izazinzulu zichonge ezinye izinto ezinokubangela umngcipheko ezinokwandisa amathuba okuba umntwana ongekazalwa abe ne-holoprosencephaly. Ezi ziquka:

  • Ukuba nesifo seswekile: Ukuba ubunesifo seswekile sohlobo 1 okanye uhlobo 2 ngaphambi kokuba ukhulelwe, usenokuba sengozini enkulu yokuba nomntwana one-HPE. Oku akufanele kubhidaniswe nesifo seswekile sokukhulelwa, esenzeka ngexesha lokukhulelwa.
  • Ukunqongophala kwe-folate (i-folic acid): I-folate, uhlobo lwendalo lwe-vitamin B9, ibalulekile ekuphuhlisweni okunempilo kwe-fetus, ingakumbi ingqondo kunye nomqolo. Ukunqongophala kwe-folate ngaphambi nangexesha lokukhulelwa kunokunyusa umngcipheko wokuba nomntwana one-HPE.
  • Ukuvezwa kwi-teratogens: Ii-Teratogens zizinto okanye izinto ezibangela iingxaki ekukhuleni komntwana ongekazalwa kwaye zikhokelela kwiziphene zokuzalwa. Ukuvezwa kwi-teratogens, ezifana ne-ethanol (utywala), i-retinoic acid, kunye ne-mycotoxins (ityhefu yesikhunta) ekutyeni, kunokunyusa umngcipheko wokuba nomntwana one-holoprosencephaly.

Kungoko ke, kubaluleke kakhulu ukulandela indlela yokuphila enempilo, ukutya ukutya okunesondlo, kunye nokulandela iingcebiso zonyango ngexesha nangaphambi kokukhulelwa.

Ithini ingqikelelo ye-holoprosencephaly (HPE)?

Imbono, okanye i-prognosis, ye-holoprosencephaly (HPE) iyahluka ngokuxhomekeke kubukhali bemeko kunye nesizathu esithile.

Imbono ye-HPE ephakathi ukuya kweqatha ngokubanzi ayintle. Bambalwa kakhulu abantwana abane-HPE ephakathi ukuya kweqatha abasindayo bade babe badala. Abantwana abane-HPE engaphantsi ukuya kweqatha badla ngokusinda bade babe badala, kodwa badla ngokuphila neengxaki zempilo ezinxulumene ne-HPE.

Abantwana abaninzi abane-holoprosencephaly bafuna amayeza kunye nonyango lwemihla ngemihla ukuthintela ukuxhuzula kunye nokunyanga ezinye iingxaki.

Izinto ozilindile emhlabane

Ubungakanani bobomi bomntu one-holoprosencephaly (HPE) buxhomekeke kuhlobo lwe-HPE anayo kunye nesizathu esiyintloko sale meko.

Iintsana ezine-Alobar HPE (uhlobo olubi kakhulu) zihlala zifa njengeemveku ezizelwe zifile, nokuba emva nje kokuzalwa okanye kwiinyanga ezintandathu zokuqala zobomi.

Ngaphezulu kwama-50% abantwana abane-semilobar okanye i-lobar HPE, kwaye bengenazo ezinye iingxaki zomzimba, baphila ubuncinane iinyanga ezili-12.

Abantwana abaneengxaki ezincinci ze-HPE badla ngokuphila ubomi babo bonke baze babe badala.

Ukuba umntwana wam une-holoprosencephaly (HPE), ndimele ndilindele ntoni?

Oku kubaluleke kakhulu. Khumbula ukuba akukho bantwana babini abane-holoprosencephaly (HPE) abachaphazeleka ngendlela efanayo. Akukho ndlela yokwazi ngokuqinisekileyo ukuba umntwana wakho uza kuchaphazeleka njani. Eyona nto ingcono onokuyenza ukulungiselela ikamva kukuthetha neengcali eziphanda kwaye zinyange i-holoprosencephaly. Banokukunika ulwazi oluthe kratya malunga noku.

Ndingamnyamekela njani umntwana wam one-holoprosencephaly (HPE)?

Ukuze uncede ukhathalele umntwana wakho one-holoprosencephaly (HPE), landela la macebiso avela koogqirha bakhe:

  • Nika nayiphi na imithi echazwe ngugqirha njengoko kuyalelwe.
  • Jonga uvavanyo lophuhliso kunye nonyango.
  • Qiniseka ukuba uyaya kuzo zonke iityelelo zonyango ezilandelayo.

I-Holoprosencephaly inokubangela iingxaki zengqondo, ze-neurologic, kunye/okanye ze-motor. Abantwana abaninzi abane-HPE baneengxaki zokukhula kwaye banokufuna uncedo ngemisebenzi yemihla ngemihla ebomini babo bonke.

Iqela lezonyango lomntwana wakho linokukuphendula imibuzo yakho kwaye likunike inkxaso. Banokukwalathisa kumaqela enkxaso kwindawo okuyo okanye kwi-intanethi. Khumbula ukuba awuwedwa.

Ndifanele ndimbone nini ugqirha womntwana wam?

Ukuba umntwana wakho ufunyaniswe ene-holoprosencephaly (HPE), kuya kufuneka abone iqela lakhe lezonyango rhoqo ukuqinisekisa ukuba unyango lwakhe luyasebenza kwaye ahlole inkqubela yakhe yokukhula.

Ukufumanisa ukuba umntwana wakho une-holoprosencephaly kunokuba nzima ukumelana nayo. Kodwa yazi ukuba awuwedwa. Kukho izixhobo ezininzi ezifumanekayo zokukunceda wena nosapho lwakho. Kubalulekile ukuthetha nogqirha onolwazi ngale meko. Oku kuya kukunceda ufunde ngakumbi ngendlela umntwana wakho aza kuchaphazeleka ngayo kunye nendlela yokuyilungiselela.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

IHoloprosencephaly (HPE) sisiphene esintsonkothileyo sokuzalwa esenzeka xa ingqondo yomntwana ingahlukani kakuhle ibe zii-hemispheres ezimbini esibelekweni.

  • Kukho iintlobo ezahlukeneyo kunye namanqanaba obunzima , ngoko ke iimpawu ziyahluka kumntwana ngamnye.
  • Kudla ngokubakho izizathu zemfuza kunye nokuphazamiseka kwe-chromosome , kodwa ngamanye amaxesha unobangela awufumaneki.
  • Nangona inokubonwa ngaphambi kokuzalwa nge-ultrasound okanye i-MRI, idla ngokubonwa kuphela emva kokuzalwa.
  • Akukho nyango luthile , kodwa kukho iindlela ezahlukeneyo zonyango zokulawula iimpawu nokuxhasa umntwana.
  • Imbono iyahluka ngokuxhomekeke kubukhulu bemeko. Kwiimeko ezincinci, abantwana banokuphila baze babe ngabantu abadala.
  • Ukuba ukhulelwe okanye uceba ukukhulelwa, lumka ngezinto ezifana nokulawula isifo sakho seswekile kunye nokuthatha i-folic acid.
  • Awuwedwa kule meko. Ungafumana uncedo koogqirha, abacebisi, kunye namaqela enkxaso. Ulwazi oluchanekileyo kunye nenkxaso zibaluleke kakhulu.

I- Holoprosencephaly, i-HPE, iingxaki zobuchopho, iziphene zokuzalwa, uphuhliso losana olungekazalwa, izifo zemfuza, ukungaqheleki kwe-chromosome, impilo yokukhulelwa, impilo yomntwana

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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