Yala a bɛ iko i den bɛ kɔrɔbaya joona kojugu wa? An ka kunnafoni sɔrɔ Cockayne Syndrome kan!

Tuma dɔw la, an bɛ siran kosɛbɛ ni an ye yɛlɛma dɔw ye an denw ka yiriwali la, tiɲɛ tɛ? Kɛrɛnkɛrɛnnenya la ni den taamacogo tɛ kelen ye ni denmisɛn tɔw ta ye, walima n’an ye fɛn caman yeli ye farikolo la. Bi an bɛna kuma o furakɛli cogoya in kan min man ca, nka a nafa ka bon kosɛbɛ, an ka kan ka min dɔn. O ye Cockayne Syndrome ye. I bɛ se ka hami n’i ye nin tɔgɔ in mɛn, nka an ka kuma a kan cogo nɔgɔman na ani cogo jɛlen na.

Cockayne Syndrome ye mun ye tigitigi?

N’an y’a fɔ cogo nɔgɔman na, Cockayne Syndrome ye bana ye min man ca kosɛbɛ, a bɛ sɔrɔ ciyɛn fɛ. O la, den farikolo yɔrɔw tɛ yiriwa ka ɲɛ, wa u bɛ kɔrɔya joona taamasiɲɛw jira (progeria) . Miiri k’a filɛ, hali a denmisɛnman, a yecogo n’a farikolo baara dɔw bɛ daminɛ ka kɛ i n’a fɔ mɔgɔkɔrɔba ta.

Ka fara nin bana in kan, taamasiɲɛ jɔnjɔn damadɔ wɛrɛw bɛ se ka ye:

• Yeelen dɔnni : N’an b’a fɛ k’a fɔ tigitigi, fari bɛ jeni joona ni a bɛ tile la, wa ɲɛw fana tɛ lafiya.
• Dwarfism: Den janya ni a girinya ka dɔgɔn kosɛbɛ ka tɛmɛ a cogo kɔrɔ kan.
• Hakiliɲagami min bɛ taa ɲɛ: Waati tɛmɛnen kɔfɛ, fɛnw i n’a fɔ hakilijagabɔ ni kalan seko bɛ se ka dɔgɔya dɔɔni dɔɔni.

Yala Cockayne Syndrome suguya wɛrɛw bɛ yen wa?

Ɔwɔ, nin bana in suguya saba de bɛ yen, u kelen-kelen bɛɛ daminɛ ni u juguya tɛ kelen ye.

1. Sugu 1 (classic): Nin ye suguya ye min ka ca. A taamasiɲɛw bɛ daminɛ ka bɔ den ka san kelen ɲɔgɔn kɔfɛ. O taamasiɲɛw bɛ bonya dɔɔni dɔɔni waati tɛmɛnen kɔfɛ.

2. Sugu 2 (banakisɛ) : Nin ye suguya ye min ka jugu kosɛbɛ. A taamasiɲɛw bɛ ye bange waati. O denmisɛnniw bɛ bonya dɔɔni dɔɔni kosɛbɛ.

3. Sugu 3nan : Nin man ca kosɛbɛ. A taamasiɲɛw man jugu o cogo la. Ani fana, o taamasiɲɛw bɛ ye kɔfɛ ɲɛnamaya kɔnɔ.

Nin bana in ka ca cogo di?

Cockayne Syndrome ye bana ye min man ca kosɛbɛ. A fɔra ko nin bana in bɛ sɔrɔ den kura miliyɔn kelen o miliyɔn fila fo saba dɔrɔn de la jamanaw la i n’a fɔ Ameriki ani Erɔpu. O banabagatɔ suguw bɛ se ka sɔrɔ tuma dɔw la Sri Lanka fana.

Mun de bɛ Cockayne Syndrome bila mɔgɔ la?

Nin ye ko gɛlɛn ye dɔɔnin, nka n b’a ɲɛfɔ cogo nɔgɔman na. Fɛn dɔ bɛ an farikolo yɔrɔw la min bɛ wele ko `ADN`. A bɛ iko gafe min kɔnɔ kunnafoni bɛɛ bɛ sɔrɔ an farikolo mago bɛ minnu na walasa ka baara kɛ. Nin `ADN` in bɛ se ka tiɲɛ kun caman kosɔn. I n'a fo:

• Radiation (fiɲɛbɔ) (radiation).
• Fura minnu bɛ baga bila mɔgɔ la
• Ultraviolet yeelen min bɛ bɔ tile la
• Molecules sabatibali minnu bɛ sɔrɔ an farikolo la (radicaux libres) .

A ka c’a la, mɔgɔ kɛnɛman farikolo la, ni nin ``ADN`` in tiɲɛna, fɛɛrɛ kɛrɛnkɛrɛnnen dɔ bɛ yen walasa k’a dilan. I n’a fɔ ni so kɔnɔ fɛn dɔ tiɲɛna, a bɛ dilan cogo min na.

Nka, Cockayne Syndrome bɛ denmisɛn minnu na, nin `ADN` dilancogo (`ADN dilancogo jugu`) tɛ baara kɛ ka ɲɛ. O sababu ye fɛn falenw ye `ERCC6` walima `ERCC8` jamu la. O jɛnɛya ninnu bɛ dɛmɛ don `ADN` dilancogo la. O la, ni o jɛnɛya ninnu ma baara kɛ ka ɲɛ, `ADN` tiɲɛni bɛ dalajɛ k'a sɔrɔ u ma dilan. O kɔ, seliw tɛ se k’u ka baara kɛ ka ɲɛ. O de ye nin taamasiɲɛ ninnu bɛɛ kunba ye.

Cockayne Syndrome taamasiɲɛw ye jumɛnw ye?

Nin bana in bɛ se ka farikolo yɔrɔ caman minɛ. An k’a lajɛ u ye min ye.

Ɲɛkisɛ taamasiɲɛw:

Ɲɛw ye farikolo yɔrɔ dɔ ye bana in bɛ mɔgɔ minɛ kosɛbɛ.

• Ɲɛkisɛ ɲɛkisɛ kulɛri tɛ kelen ye.
• Sankaba bɛ kɛ ɲɛkisɛ la, o ni ɲɛnamini bɛ tali kɛ ɲɔgɔn na.
• Ɲɛw tigɛlen (strabismus).
• Sebaliya ka ɲɛkisɛw datugu pewu.
• Yɔrɔjan yecogo.
• Ɲɛji minnu bɛ bɔ ɲɛw la, olu dɔgɔyara.
• Atrophie optique (Atrophie optique) ye.
• Ɲɛkisɛ fanga dɔgɔyali dɔɔni dɔɔni (Retina degeneration).
• Ɲɛ minnu ka dɔgɔn ka tɛmɛ u bonya kan (microphthalmie).
• Ɲɛ minnu bɛ jigin (enophthalmos).

Ɲɛda cogoyaw:

Fɛn kɛrɛnkɛrɛnnen dɔw fana bɛ Se ka Ye ɲɛda cogoya la.

• Ɲɛw toli ka teli ka kɛ ka a sababu kɛ ɲinw bɛnbaliya ye.
• Earlobes bɛ bonya ka tɛmɛ a cogo kɔrɔ kan ani u cogoya bɛ Changé.
• Kungolo hakɛ fitinin (microcephalie).
• Nu gerenni.
• Sanfɛla ni duguma dawolo bɔli (prognathisme).

Gɛlɛya minnu bɛ sɔrɔ ɔrimɔni fɛ:

• Puberty (cɛya cɛya) min bɛ mɛn sen na.
• Den sɔrɔli gɛlɛyaw.
• Cɛdenw ka cɛya minnu tɛ jigin.

Jogo minnu bɛ tali kɛ farikoloɲɛnajɛ ni u yiriwali la:

Olu bɛ nɔba bila den ka don o don baaraw la.

• Farikolo gɛlɛyali (spasticité) min tɛ a cogo la.
• Hakilila seko minnu bɛ dɔgɔya dɔɔni dɔɔni.
• Yiriwali kɔtigɛlenw (misali la, taama kɔtigɛlen, kuma).
• Kuma gɛlɛya (aphasie).
• Farikolo yɔrɔw yɛrɛyɛrɛ (Yɛrɛyɛrɛli nafama).
• Gɛlɛya minnu bɛ lamaga ni ɲɔgɔndɛmɛ na (ataxia).
• Kalan gɛlɛyaw.
• Epileptic states `(Kɔnɔboli)`.

Farikolo taamasiɲɛw:

• Sumaya dɔgɔyali (sɔgɔsɔgɔninjɛ).
• Fari bɛ jogin nɔgɔya la ani ka jogin.
• Nɛnɛ bɛ kɛ a la ni i magara fari la.
• Fari kulɛri bulu (cyanosis) (kɛrɛnkɛrɛnnenya la farikolo yɔrɔw la).

A nɔ wɛrɛw:

• Tansiyɔn jiginni.
• Tumu minnu bɛ dusukun lamini na (atherosclerose).
• Sugunɛbilenni.
• Kunsigi jɛman ka kɔn a waati ɲɛ.
• A janya ni a girinya bɛ duguma kosɛbɛ a hakɛ la (dwarfisme).
• Lamɛnni gɛlɛya.
• Joli belebelebaw.
• Farikoloɲɛnajɛ (atrophie musculaire).
• Kifosi (kifosi) bɛ sɔrɔ.
• Bolo ni senw janya cogo la min tɛ bɛn ni i y’a suma ni farikolo surun ye.

Nafama: Nin taamasiɲɛ ninnu bɛɛ tɛna kɛ den kelen-kelen bɛɛ la, wa a taamasiɲɛw juguya bɛ se ka ɲɔgɔn ta den ni den cɛ.

Cockayne Syndrome bɛ sɔrɔ cogo di?

Dɔgɔtɔrɔ bɛ o bana in sɛgɛsɛgɛ ni den ka kɛnɛyaso cogoyaw ni a ka sɛgɛsɛgɛli kɛrɛnkɛrɛnnenw jaabiw lajɛli ye. Sɛgɛsɛgɛli kunbaba minnu bɛ Kɛ olu ye:

• Jɛnkulu sɛgɛsɛgɛli : Den joli ta bɛ ta ka sɛgɛsɛgɛli kɛ ni fɛn dɔw b’a la ERCC6 walima ERCC8 jamu la.
• Fari biyopisi : Farikolo yɔrɔ fitinin dɔ bɛ ta ka a sɛgɛsɛgɛ laboratuwari la walasa ka a dɔn farikolo bɛ se ka ADN dilan. Cockayne Syndrome bɛ mɔgɔ minnu na, ADN dilancogo bɛ teliya ka tɛmɛ a cogo kɔrɔ kan.

Fɛn wɛrɛ bɛ yen min nafa ka bon nin bana in sɛgɛsɛgɛli la. O kɔrɔ ye ko a nafa ka bon ka taa dɔgɔtɔrɔ dɔnbaga dɔ fɛ min bɛ nin bana in dɔn kosɛbɛ. Sabula bana wɛrɛw bɛ yen minnu taamasiɲɛw bɛ ɲɔgɔn ta (misali la `Hutchinson-Gilford progeria syndrome`, `Laron syndrome`, `Seckel syndrome`). O la, walasa ka sɛgɛsɛgɛli kɛ ka ɲɛ, a ka kan ka se ka nin danfara don ni o bana suguw ye.

Cockayne Syndrome furakɛcogo jumɛnw ye?

A fɔ man di nka, fura tɛ Cockayne Syndrome la. Nka, o kɔrɔ tɛ ko foyi tɛ yen an bɛ se ka min kɛ. Furakɛli kunba ye ka gɛlɛyaw kunbɛn ani k’u furakɛ minnu bɛ sɔrɔ bana in fɛ. O bɛ dɔgɔtɔrɔw ka kulu dɔ ka dɛmɛ de wajibiya min kɔnɔ, dɔgɔtɔrɔ kɛrɛnkɛrɛnnen suguya caman bɛ yen.

An ka furakɛli suguya dɔw lajɛ:

Denso ladonni:

• Denso lajɛ tuma bɛɛ ka kan ka kɛ walasa ka ɲinw toli bali ani k’a furakɛ.

Ɲɛ ladonni:

• Ɲɛkisɛw bɛ se ka kɛ opereli ye.
• Ni ɲɛw tigɛlen don, ɲɛkisɛw bɛ se ka kɛ ka ɲɛkisɛ barikamaw barika bonya.
• Lunɛti minnu bɛ kɛ ka ɲɛnayeli kɛ kɛrɛfɛ.
• Tile ɲɛkisɛw walasa ka aw ɲɛw tanga yeelenba ma.

Dɛmɛ don balodɛsɛ la:

• A bɛ se ka gɛlɛya den dɔw ma ka dumuni munumunu. O cogo la, a bɛ se ka kɛ ko a ka kan ka balo ni tubabufura ye min bɛ bila nugu fɛ ka don kɔnɔbara la (nasogastric tube) walima tubabukan dɔ fɛ min bɛ don kɔnɔbara la k’a ɲɛsin fari ma (percutaneous endoscopic gastrostomy - PEG).

Kuma, farikoloɲɛnajɛ ani baarakɛcogo furakɛli furakɛli:

• Minɛn minnu bɛ dɛmɛ ka farikolo jɔyɔrɔ sabati (misali la, kɔrsɛti).
• Farikoloɲɛnajɛ ni baarakɛcogo furakɛli furakɛli walasa ka gɛlɛyaw ɲɛnabɔ i n’a fɔ taama gɛlɛyaw.
• Kuma furakɛli furakɛli minnu bɛ kɛ walasa ka kuma ni munumunu seko caya.

Furakɛli wɛrɛw:

• Kalan kɛrɛnkɛrɛnnenw porogaramuw yiriwali kɔtigɛlenw kama.
• Fura walima dumuni kɛrɛnkɛrɛnnen dɔ min bɛ kɛ ka tulumafɛnw bali dusukun na.
• Lamɛnnikɛminɛn minnu bɛ kɛ mɛnnikɛbaliya la.
• Fura minnu bɛ kɛ ka farikolo gɛlɛya (pasticité), yɛrɛyɛrɛ, tansiyɔn jiginni ani kunfilanitu kunbɛn.
• Tile lakanani nafa ka bon kosɛbɛ. O kɔrɔ ye ka dan sigi tile la, ka finiw don, ani ka finiw don minnu bolo jan don.

Yala Cockayne Syndrome bɛ se ka bali wa?

Ikomi nin ye bana ye min bɛ sɔrɔ jamu fɛ, foyi tɛ an bolo ka a bali. Ni den bangera ni nin bana in ye, o bɛ nɔ bila u la u si bɛɛ la.

Nka, ni aw b’a fɛ ka denbaya daminɛ walima ni aw bɛ den wɛrɛ makɔnɔ, ni aw ka denbaya kɔnɔ mɔgɔ dɔ ye Cockayne Syndrome sɔrɔ, a nafa ka bon kosɛbɛ ka ladilikan sɔrɔ jamu kan ani ka jamu sɛgɛsɛgɛli kɛ. Nin sɛgɛsɛgɛliw bɛ se k’a jira aw la ni ERCC6 walima ERCC8 jamu jiginni bɛ aw ni aw furuɲɔgɔn na. N’o don, jamu ladilikɛla bɛ se k’a ɲɛfɔ aw ye ko a bɛ se ka kɛ ko den bɛ se ka sɔrɔ ni Cockayne Syndrome ye.

Cockayne Syndrome bɛ denmisɛn minnu na, olu ka ɲɛnamaya ɲɛfɔcogo ye mun ye?

Cockayne Syndrome ye bana ye min bɛ nɔ bila mɔgɔ si hakɛ la. Den ka siniɲɛsigi bɛ bɔ bana suguya de la.

• Sugu fɔlɔ : A si hakɛ cayalenba bɛ san 10 ni san 20 cɛ.
• Sugu 2nan : A ka c’a la, o denmisɛnniw tɛ balo ka tɛmɛ denmisɛnya kan.
• Sugu 3nan : Nin den caman bɛ se ka balo fo ka se balikuya cɛmancɛ ma.

Ka ɲɛnamaya kɛ ni Cockayne Syndrome ye, o bɛ cogo di?

Den ka don o don ɲɛnamaya bɛ bɔ Cockayne Syndrome suguya de la. Hakilila ni yiriwali gɛlɛya bɛ denmisɛn minnu na, olu dɛmɛni baara bɛ se ka dɛmɛ don ka u ka ɲɛnamaya nɔgɔya dɔɔni. Baara minnu bɛ kɛ so kɔnɔ ani sigida la, olu bɛ se ka dɛmɛ don don o don baaraw la. I bɛ se ka sigida baara kɛrɛnkɛrɛnnenw yɛrɛ sɔrɔ.

Denmisɛn dɔw bɛ taa lakɔli la fo ka se u hakili seko dɔgɔyali ma. Mɔgɔ kelen-kelen bɛɛ ka kalan bolodalenw (IEP) ani karamɔgɔ dɛmɛbagaw b’u dɛmɛ ka kalan kɛ denmisɛn tɔw kɛrɛfɛ. Nka, bana jugumanba bɛ denmisɛn minnu na, a bɛ se ka kɛ ko u tɛna nafa caman sɔrɔ lakɔli la. O nɔ na, ​​u ka don o don baara bɛ se ka kɛ furakɛli ni furakɛli fɛɛrɛw de kan minnu b’u dɛmɛ u ka to u yɛrɛ la.

A nafa ka bon kosɛbɛ: Cockayne Syndrome bɛ mɔgɔ minnu na, olu bɛ se ka kɛ ni fura dɔw ye minnu tɛ deli ka kɛ.Kɛrɛnkɛrɛnnenya la, metoronidazɔli, banakisɛfagalan min bɛ kɛ ka banakisɛw furakɛ, aw ka kan ka aw yɛrɛ tanga. Nin fura in bɛ se ka kɛ sababu ye ka sugunɛbilenni bila mɔgɔ la ani ka saya yɛrɛ bila mɔgɔ la minnu bɛ ni Cockayne Syndrome ye. O la, sani aw ka fura o fura di, aw bɛ dɔgɔtɔrɔ ladɔnniya den ka bana cogoya la ka jɛya.

A laban na, fɛn minnu ka kan ka to an hakili la (Take-Home Message) .

Cockayne Syndrome ye bana ye min man teli ka sɔrɔ, a bɛ sɔrɔ ciyɛn fɛ, a bɛ sɔrɔ ERCC6 walima ERCC8 jamu caman cili fɛ. A bɛ se ka nɔ bila den ɲɛw la, a hakililata la, a fari la ani a yecogo la. Hali ni o denmisɛn ninnu ka si hakɛ ka surun ka tɛmɛ u hakɛ cayalenba kan, furakɛli suguya caman ni dɛmɛni baaradaw bɛ se ka u dusu saalo ni u ka ɲɛnamaya kɛcogo ɲuman caya.

Ni aw bɛ sigasiga ko nin taamasiɲɛ ninnu bɛ aw den na, a ka fisa aw kana siran, nka aw ka taa dɔgɔtɔrɔso la joona joona. Ni aw ye bana sɛgɛsɛgɛ ka ɲɛ ani ka a furakɛ joona, o bɛ se ka lafiya caman di aw den ma. Aw k’aw hakili to a la ko aw kelen tɛ, wa dɔgɔtɔrɔw ni mɔgɔ caman wɛrɛw bɛ yen minnu bɛ se k’aw dɛmɛ nin taama in na.

` Kokayini ka banaw, jamu banaw, ADN dilancogo, kɔrɔya joona, yiriwali kɔtigɛlen, yeelenko, bana minnu man teli ka sɔrɔ