Kodi mwana wanu ali ndi matenda osowa awa? (Nonketotic Hyperglycinemia - NKH) Tiyeni tikambirane za izi

Kodi mwana wanu wakhanda nthawi zonse amakhala ndi tulo, sakufuna kuyamwitsa? Kapena akuvutika kupuma? Ndizachilendo kuti inu monga kholo muzichita mantha kwambiri mukaona zinthuzi. Nthawi zina, pakhoza kukhala vuto lalikulu, komanso losowa, lomwe lili kumbuyo kwa zizindikirozi. Limodzi mwa matenda amenewa ndi `(Nonketotic Hyperglycinemia)` kapena `(NKH)`. Tiyeni tikambirane za izi mwatsatanetsatane komanso lero.

Kodi mukudziwa tanthauzo la `(NKH)`?

Mwachidule, ``Nonketotic Hyperglycinemia`` kapena ``NKH`` ndi matenda osowa kwambiri a majini . Chomwe chimachitika ndi chakuti thupi la mwana wathu silingathe kulamulira kapena kuswa molekyulu yotchedwa ``glycine`` bwino.

Tsopano mwina mukufunsa kuti `(glycine)` ndi chiyani. `(Glycine)` ndi amino acid `(amino acid)`. Monga momwe njerwa zimafunikira pomanga nyumba, ma amino acid awa ndi ofunikira popanga mapuloteni m'thupi lathu. Chifukwa chake, pamene thupi la mwana silingathe kulamulira bwino `(glycine)` iyi, imayamba kusonkhana m'malo osiyanasiyana a thupi, makamaka muubongo . Izi zimatchedwa `(hyperglycinemia)` pamene kuchuluka kwa `(glycine)` kukukwera mosafunikira. Izi zingayambitse mavuto akulu amitsempha, chikomokere, komanso nthawi zina imfa mwa mwana.

Gawo la "nonketotic" la dzinali limatanthauza kuti ndi losiyana ndi matenda ena omwe angayambitse kuchuluka kwa glycine m'thupi. NKH imatchedwanso inborn error of metabolism . Ndi vuto lomwe limachitika munthu akangobadwa ndipo limakhudza momwe zinthu zina m'thupi sizimachitikira bwino. Dzina lina la izi ndi glycine encephalopathy.

Kodi pali mitundu ina ya `(NKH)`?

Inde, ofufuza amagawa NKH m'mitundu iwiri ikuluikulu: yakale ndi yosiyana . Izi zimachitika chifukwa cha mitundu iwiri ya kusintha kwa majini. Mayina akuti classical ndi yosiyana NKH amatanthauza jini yomwe ili ndi kusintha.

Mtundu wa `(NKH)` wakale umagawidwanso m'mitundu iwiri - wovuta komanso wofooka . Izi zimagawidwa malinga ndi kuopsa kwa zizindikiro. Mwa izi , `(NKH)` wovuta ndiye wofala kwambiri .

Kodi vutoli ndi lofala bwanji?

`(NKH)` ndi matenda osowa kwambiri . Padziko lonse lapansi, pafupifupi mwana m'modzi mwa ana 76,000 aliwonse amakhudzidwa ndi matendawa. Choncho musachite mantha mukamva izi. Komabe, ndikofunikira kwambiri kudziwa.

Kodi zizindikiro za matenda a `(NKH)` ndi ziti?

Zizindikiro za mitundu yonse ya ``NKH'' yoopsa komanso yofatsa nthawi zambiri zimayamba munthu akangobadwa . Nthawi zina, zizindikiro zimatha kuwoneka mkati mwa miyezi ingapo yoyambirira ya moyo.

Zizindikiro za vuto lalikulu la `(NKH)`:

Zinthu zoyamba zomwe makanda omwe ali ndi vuto la `(NKH)` lalikulu angazindikire ndi izi:

• Kugona kwambiri (kutopa): Izi zimatha kuwonjezeka pang'onopang'ono ndikupitirira kukhala chikomokere.
• Kufooka kwa minofuHypotonia: Mwanayo angamve ngati alibe moyo.
• Kupuma movutikira komwe kungawononge moyo : Izi zitha kuoneka m'masiku oyambirira a moyo.

Ngati mupewa zizindikiro zoyambirira izi, nthawi zambiri mudzawona zotsatirazi:

• Kuvuta kumwa mkaka.
• Kupuma pang'onopang'ono (apnea).
• Kulephera kwambiri kwa nzeru .
• Kuuma kwa minofu kosazolowereka (kupindika).
• Matenda a khunyu omwe ndi ovuta kuwalamulira .

Kawirikawiri, ana awa sangathe kuchita zinthu zomwe zimawapangitsa kukula bwino, monga kukwawa, kugwira chidole, kukhala pansi, ndi kumwa kuchokera m'botolo. Ngakhale ataphunzirapo kanthu, maluso amenewo amatha 'kubwerera m'mbuyo' pakapita nthawi. Tangoganizirani momwe zimakhalira zomvetsa chisoni kwa makolo.

Makhalidwe a NKH Yochepetsedwa:

Zizindikiro za NKH yofatsa sizili zovuta kwambiri poyerekeza ndi za NKH yoopsa, koma nthawi zambiri zimakhala zofanana. Ana omwe ali ndi NKH yofatsa nthawi zambiri amafika pamlingo wawo wokulirapo, koma luso lawo limasiyana kwambiri . Kukula kungachedwe, koma ana ambiri pamapeto pake amaphunzira kuyenda ndikulankhula ndi ena. Ana ena amakhala ndi khunyu, koma nthawi zambiri izi zimakhala zochepa ndipo zimatha kuchiritsidwa. Kuphatikiza apo, zizindikiro monga kuyenda kosafunikira (chorea), kuuma kwa minofu (spasticity), ndi kuchita zinthu mopitirira muyeso (hyperactivity) zingawonekerenso.

Kodi n’chiyani chimayambitsa makanda kukula `(NKH)`?

Chifukwa chachikulu cha izi ndi kusintha kwa majini, kapena kusintha kwa majini . Makamaka, pafupifupi 80% ya odwala amayamba chifukwa cha kusintha kwa majini otchedwa `(GLDC)`. Ena onse amayamba chifukwa cha kusintha kwa majini otchedwa `(AMT)`.

Majini a `(GLDC)` ndi `(AMT)` awa amalangiza thupi lathu kupanga `(ma enzyme)` ena. `(ma enzyme)` awa amagwira ntchito limodzi ngati gulu. Gululi limatchedwa `(glycine cleavage system )`. Chomwe chimachita ndichakuti pamene sitikufuna `(glycine)`, limagawa m'zigawo zing'onozing'ono. Pamene kuchuluka kwa `(Glycine)` kukuwonjezeka, kumasokoneza ntchito ya ubongo.

Kotero, ngati pali kusintha kwa majini awiriwa, zimakhala zovuta kuti matupi athu aswe glycine. Kusintha kwina kumachepetsa ntchito ya dongosolo la glycine cleavage, pomwe kwina kumachotsa kwathunthu. Dongosololi likapanda kugwira ntchito bwino, glycine yowonjezera imasonkhana m'ziwalo za mwana, makamaka ubongo. Asayansi sakudziwabe momwe zovuta izi zimathandizira ku zizindikiro za NKH.

Matendawa ``(NKH)`` amabadwa nawo mu ``autosomal recessive pattern``. Izi zikutanthauza kuti makope onse awiri a jini mu selo iliyonse ayenera kukhala ndi kusintha kwa majini. Nthawi zambiri, makolo onse awiri a munthu amene ali ndi ``(NKH)`` amakhala ndi kopi imodzi ya jini yosinthika iyi, koma samakhala ndi zizindikiro.

Kodi madokotala amazindikira bwanji matenda a `(NKH)`?

Kuti adziwe `(NKH)`, dokotala wa mwana wanu ayamba kaye wachita mayeso akuthupi ndikuyang'ana bwino zizindikiro zake. Kenako,

• Mlingo wa `(glycine)` mu madzi a m'mitsempha ya ubongo (`(Cerebral Spinal Fluid - CSF)`) ndi plasma yamagazi `(plasma)` umayesedwa. Pamene ntchito ya `(enzyme)` yomwe yatchulidwa pamwambapa yachepa, mlingo wa `(glycine)` mu `(CSF)` ndi plasma umawonjezeka. Komanso, chiŵerengero pakati pa mlingo wa `(glycine)` mu `(CSF)` ndi mlingo wa `(glycine)` mu plasma chimawonjezekanso.
• Kujambula ubongo pogwiritsa ntchito MRI n'kothandiza kwambiri, chifukwa kungasonyeze kusintha kwa ubongo wa makanda omwe ali ndi NKH.
• Kuyezetsa majini kungayang'anenso kusintha kwa majini m'modzi mwa majini awiri omwe amayambitsa NKH.
• Nthawi zambiri, chidutswa chaching'ono cha chiwindi chimatengedwa kuti chikafufuzidwe (biopsy ya chiwindi) kuti chitsimikizire matenda.

Kodi mankhwala a `(NKH)` ndi ati?

Popeza makanda omwe ali ndi `(Nonketotic Hyperglycinemia)` nthawi zambiri amadwala kwambiri, amafunika kuthandizidwa mu `(Neonatal Intensive Care Unit - NICU)` . Mu `(NICU)`, mwana wanu adzalandira chisamaliro chapamwamba komanso chithandizo.

Mwatsoka, pakadali pano palibe mankhwala a `(NKH)` oopsa . Komabe, kwa makanda omwe ali ndi mitundu yofatsa ya `(NKH)`, mankhwala ena angathandize. Mankhwalawa ayenera kuperekedwa msanga komanso mwamphamvu kuti agwire bwino ntchito.

Mankhwalawa angaperekedwe okha kapena pamodzi:

• Mankhwala omwe amachepetsa kuchuluka kwa `(glycine)` m'thupi la mwana (monga `(sodium benzoate)` ).
• Mankhwala omwe amagwira ntchito motsutsana ndi ntchito ya `(glycine)` m'maselo ena amitsempha (monga `(ketamine)` kapena `(dextromethorphan)` ).

Kulamulira khunyu n'kofunika kwambiri. Khunyu lingakhale lovuta kulithetsa ndi mankhwala wamba. Kuti mupeze chithandizo chabwino, mungafunike kuphatikiza mankhwala angapo, ndipo mankhwala ena, monga valproic acid, angafunike kupewedwa. Zakudya za ketogenic zingathandizenso kuchepetsa khunyu.

Chithandizo cha zizindikiro zina za `(NKH)`:

• Mpweya wopumira wamakina.
• Chubu cholowetsedwa m'mimba kuti chipereke chakudya (chubu cha gastrostomy).
• Kuchiza thupi.
• Kuthandizira msanga ndi thandizo lina.

Ngati mungathe, funsani dokotala wanu za kuthekera kochita nawo mayeso azachipatala .

Kodi munthu amene ali ndi `(NKH)` amakhala ndi moyo wotani?

N'zovuta kunena nthawi yeniyeni yomwe munthu amene ali ndi NKH angakhale ndi moyo. Izi zili choncho chifukwa pali kusintha kwa majini osiyanasiyana ndipo kuopsa kwa matendawa kumasiyana kwambiri. Komabe, bungwe la Foundation for Nonketotic Hyperglycinemia likuyerekeza kuti 80% ya makanda omwe ali ndi matendawa sapulumuka nthawi ya makanda (mwezi woyamba wa moyo) . Ngakhale atapulumuka nthawi ya makanda, ana ambiri omwe ali ndi NKH yoopsa sakhala ndi moyo wopitirira zaka 5. Gulu lachipatala la mwana wanu lidzatha kukupatsani lingaliro labwino la izi. Dalirani ukatswiri wawo ndi chithandizo chawo. Ndikumvetsa momwe zimakhalira zovuta kumva izi.

Kodi matendawa angapewedwe?

Ayi. (NKH) ndi matenda a majini ndipo sangapewedwe . Ngati mukuda nkhawa kuti mwana wanu angalandire matendawa, ndi bwino kulankhula ndi mlangizi wa majini musanakonzekere kutenga mimba.

Kodi ndiyenera kupita ndi mwana wanga kwa dokotala liti?

Ngati mwana wanu wakhanda akuwonetsa kutopa kwambiri kapena sakufuna kuyamwitsa , muyenera kupita naye kwa dokotala wa ana nthawi yomweyo. Dokotala angakutumizireninso ku dipatimenti yadzidzidzi ya chipatala kuti mukalandire chithandizo mwachangu. Kaya chifukwa cha zizindikirozi n’chiyani, ndikofunikira kuti mupite naye kuchipatala nthawi yomweyo.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wa mwana wanga?

Ngati mwana wanu ali ndi `(NKH)`, mungafune kufunsa mafunso awa:

• Kodi chifukwa cha kupangidwa kwa `(NKH)` n'chiyani?
• Kodi mwana wanga ali ndi mtundu wanji wa `(NKH)`?
• Kodi ndi njira ziti zochiritsira zomwe mumalimbikitsa?
• Kodi pali mayeso aliwonse omwe anganeneretu kuopsa kwa matendawa?
• Kodi mwana wanga angapite patsogolo bwanji pankhani ya kukula (kuyenda, kulankhula, nzeru)?
• Kodi mwana wanga adzayenera kumwa mankhwala kwa moyo wake wonse?
• Kodi ana anga amtsogolo angakulenso ndi `(NKH)`?
• Kodi mungandipangire gulu lothandizira?

Mwana wanu akapezeka ndi Nonketotic Hyperglycinemia (NKH), nkhaniyo ikhoza kukhala yodabwitsa komanso yosokoneza. Zingakhale zovuta kudziwa kuti mwana wanu ali ndi vuto losowa lomwe sililandira chithandizo chokwanira. Ngati n'kotheka, pezani gulu lothandizira mabanja a ana omwe ali ndi NKH. Kulankhula ndi ena omwe adakumanapo ndi zinthu zomwezo kungakupatseni mphamvu ndikukuthandizani kuthana ndi vutoli. Kumbukirani, gulu lachipatala la mwana wanu lilipo kuti likuthandizeni panjira iliyonse.

## Zinthu Zofunika Kuzikumbukira (Uthenga Wopita Nawo Kunyumba)

• (NKH) ndi matenda osowa kwambiri komanso oopsa a majini .
• Izi zimapangitsa kuti mankhwala otchedwa ``glycine'' azisonkhana m'thupi la mwana, makamaka muubongo .
• Zizindikiro nthawi zambiri zimayamba mwana akangobadwa ndipo zimatha kukhala kugona kwambiri, kuvutika kudya, kupuma movutikira, komanso kukomoka.
• Matenda aakulu a `(NKH)`Ngakhale kuti palibe mankhwala, pali mankhwala ena ofatsa.
• Ngati mwana wanu ali ndi zizindikiro izi, ndikofunikira kupeza upangiri wa dokotala nthawi yomweyo .
• Simuli nokha paulendowu. Pezani thandizo kuchokera kwa gulu lanu lachipatala ndi magulu othandizira . Mphamvu zanu zamaganizo nazonso ndizofunikira kwambiri.

Ndikukhulupirira kuti izi zikuthandizani. Chofunika kwambiri m'nthawi zovuta izi ndikukhala olimba mtima.

` Nonketotic Hyperglycinemia, NKH, Glycine, Matenda a majini, Matenda a Ana, Matenda a Mitsempha, Zovuta za Kagayidwe kachakudya