Yala aw bɛ Koolen-de Vries Syndrome dɔn wa? An ka kuma o kan!

Yala i denmisɛnnin bɛ kɔfɛ dɔɔnin ka tɛmɛ denmisɛn tɔw kan sigili la, baro la walima taama na wa? A bɛnnen don bangebagaw ka hami ani ka jɔrɔ dɔɔni ni u ye nin ɲɔgɔnna fɛnw ye. Nka waati latɛmɛni bɛɛ tɛ gɛlɛyaba ye. Nka, a nafa ka bon ka kɛ sababu ye ka bana dɔw dɔn minnu man teli ka sɔrɔ, minnu bɛ sɔrɔ jamu fɛ. Misali la, Koolen-de Vries ka bana ye bana ye an tɛ min mɛn don o don, nka a nafa ka bon ka a dɔn. An ka kuma o kan cogo nɔgɔman na, cogo la min bɛ se ka faamuya.

Koolen-de Vries ka bana ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Kuhlman-de Vries Syndrome (KdVS) ye bana ye min man teli ka sɔrɔ jamu fɛ. A bɛ tali kɛ kolosinsinnanw na minnu bɛ an farikolo la. Ni an b’a fɛ k’a fɔ tigitigi, a bɛ sɔrɔ an ka kolosinsinnan nimɔrɔ 17 yeli ye min tɛ ye .

Aw bɛ se ka nin bana in kɔlɔsi fɔlɔ ni aw den sigilen don a yɛrɛ ma kɔfɛ ka tɛmɛ denmisɛn tɔw kan minnu si bɛ u si hakɛ la, ni a bɛ u ka kuma fɔlɔw fɔ kɔfɛ, walima ni a bɛ waati jan ta ka a sen fɔlɔw ta. Nin bana in tɔgɔ wɛrɛ ye `17q21.31 microdeletion syndrome.` Hali n’a tɔgɔ bɛ se ka fɔ ko a ka gɛlɛn dɔɔni, an k’a kɔrɔ lajɛ kosɛbɛ.

Min nafa ka bon, o ye ko hali ni nin taamasiɲɛ ninnu bɛ se ka ɲɔgɔn ta denmisɛn ni den cɛ, o ye nin bana in taamasiɲɛ ye min ka teli ka kɛ ko nin denmisɛn ninnu ka teli ka nisɔndiya kosɛbɛ ani ka teriya kɛ . O ye ko ɲuman ye tiɲɛ na. Nka, u mago bɛna kɛ dɔgɔtɔrɔ ka dɛmɛ ni dɛmɛ na u ka ɲɛnamaya bɛɛ kɔnɔ walasa ka bana taamasiɲɛ wɛrɛw kunbɛn.

Taamasiɲɛ jumɛnw bɛ se ka ye nin bana in na?

Hali ni bana taamasiɲɛ minnu bɛ ye denmisɛnniw na minnu bɛ ni Kuhlman-de Vries syndrome (KdVS) ye, olu bɛ se ka ɲɔgɔn ta mɔgɔ kelen-kelen bɛɛ la, a taamasiɲɛ dɔw bɛ yen minnu ka ca.

Taamasiɲɛ minnu bɛ ye ka caya:

• Yɛlɛma bilali kɔfɛ: O ye taamasiɲɛba ye. O kɔrɔ ye ko fɛn minnu bɛ i n’a fɔ wuluwulu, sigili, taama, ani kuma, olu bɛ se ka kɛ kɔfɛ ka tɛmɛ denmisɛn tɔw kan minnu si hakɛ ye kelen ye.
• Hakilila-dɛsɛ misɛnniw fo ka se a danma-danma ma: A bɛ se ka kɛ ko a mago bɛ waati dɔɔni na ani ka dɛmɛ don walasa ka fɛn kuraw dege ani ka u faamu.
• Farikolo fanga dɔgɔyali (hypotonia): Ni an b’a fɛ ka tiɲɛ fɔ, a bɛ se ka kɛ i n’a fɔ farikolo farikolo yɔrɔw lafiyalen don dɔɔni ani u tɛ jɔ. O bɛ se ka gɛlɛya don lamaga-lamagali dɔw kɛli la.
• Fɔɔnɔ basigilen : Den dɔw bɛ se ka fɔɔnɔ banbali sɔrɔ tile damadɔ kɔnɔ k’a sɔrɔ a sababu ma ye. O bɛ se ka segin ka kɛ tuma ni tuma.

Taamasiɲɛ wɛrɛ minnu bɛ se ka denmisɛn dɔw sɔrɔ:

Ka fara nin taamasiɲɛ kunbaba ninnu kan, den dɔw bɛ se ka gɛlɛya wɛrɛw sɔrɔ.

• Denmisɛnw baloli gɛlɛya : Dumuni minni ni a munumuni gɛlɛya, kɛrɛnkɛrɛnnenya la denmisɛnya waati, o bɛ se ka kɛ.
• Dusukun, sugunɛ walima sugunɛbilenni : Den dɔw bɛ se ka bange ni fiɲɛ dɔw ye dusukun, sugunɛ walima sugunɛ na.
• Skɔli: O ye bana ye min kɔkolo bɛ kuru ka taa fan kelen fɛ.
• Kɔnɔboli/ Kɔnɔboli : Bana minnu bɛ i n’a fɔ kirinni, olu bɛ se ka kɛ.
• Tɔgɔtɔgɔnin minnu ma jigin : O ye bana ye min na den cɛmanw ka cɛya tɛ jigin ka ɲɛ ka bɔ kɔnɔbara la ka don cɛya la.

Den ka kɛwalew ni a ka jogo

Koolen-de Vries bana bɛ denmisɛn minnu na , olu bɛ ye tuma caman na ko u nisɔndiyalen don kosɛbɛ ani ko u bɛ teriya kɛ . U bɛ mɔgɔw fɛ kosɛbɛ. Nka tuma dɔw la, bana dɔw bɛ se ka kɛ u la i n’a fɔ Attention-Deficit/Hyperactivity Disorder (ADHD) walima farikolojidɛsɛ ni kɛwalew i n’a fɔ Autisme Spectrum Disorder .

Fɛn kɛrɛnkɛrɛnnen minnu bɛ se ka ye denmisɛnniw ɲɛda la minnu bɛ ni Koolen-de Vries Syndrome ye

Nin bana in bɛ denmisɛn minnu na, olu ɲɛda cogoya kɛrɛnkɛrɛnnen dɔw bɛ se ka kɛ. Nka aw hakili to a la, k’a sababu kɛ nin fɛn ninnu kelen walima fila bɛ aw la, o kɔrɔ tɛ ko bana in bɛ aw la. Olu ka kan ka dafa dɔgɔtɔrɔ fɛ.

• Ɲɛda janyalen dɔ
• Foroko belebeleba
• Nu min bɛ i n’a fɔ peresi
• Ɲɛkisɛ min bɛ jigin (ptose) .
• Tulo belebelebaw, minnu bɛ bɔ kɛnɛma
• Ɲɛw kɔkanna yɔrɔw yecogo min bɛ taa san fɛ
• Fari kurulen min bɛ ɲɛw kɔnɔna datugu (epikanthal folds) .

Nin taamasiɲɛ ninnu tɛ kɛ den kelen-kelen bɛɛ la cogo kelen na. Nin taamasiɲɛ caman bɛ se ka kɛ denmisɛn dɔw la, ka sɔrɔ dɔw fana bɛ se ka dɔgɔya.

Mun de bɛ Koolen-de Vries ka bana bila mɔgɔ la?

Sisan, an k’a lajɛ mun de bɛ nin bana in lase mɔgɔ ma. Koolen-de Vries Syndrome bɛ sɔrɔ `KANSL1` jamu jiginni fɛ walima a bɔli dafalen fɛ min bɛ sɔrɔ kolosinsinnan 17 kan.

Miiri k’a filɛ, farikolokisɛ kelen-kelen bɛɛ bɛ ni kolosinsinnanw ye. O kolosinsinnanw bɛ jamu minnu ta, olu bɛ fɛn bɛɛ latigɛ k’a ta an yecogo la ka taa a bila an jogo la. A ka c’a la, an bɛ kolosinsinnan kelen-kelen bɛɛ kopi fila sɔrɔ, kelen bɛ bɔ an ba fɛ, kelen bɛ bɔ an fa fɛ.

Ka bɔ denmisɛnniw na minnu bɛ ni Kuhlman-de Vries syndrome (KdVS) ye .U fanba (95% ɲɔgɔn) bɛ ni `KANSL1` jamu kopi ye min tɛ u ka kolosinsinnan nimɔrɔ 17. O bɛ wele ko `microdeletion` , o kɔrɔ ye ko jamu yɔrɔ fitininba dɔ tɛ yen. Mɔgɔ fitinin tɔw bɛ ni `KANSL1` jamu ye, nka fɛn dɔ b'a la min bɛ jamu bali ka baara kɛ ka ɲɛ.

`KANSL1` jamu jɔyɔrɔ

Nin `KANSL1` jamu in nafa ka bon kosɛbɛ. Sabula a bɛ farikolojɔlifɛn dɔ dilan min bɛ dɛmɛ ka jamu wɛrɛw baaracogo kɔlɔsi. O bɛ Kɛ ni fɛn dɔ caman cili ye min bɛ Weele ko `chromatin` . `Kromatini` ye farikolojɔlifɛnw ni `ADN` faralen ye ɲɔgɔn kan . O de bɛ `ADN` kɛ pake ye ka kɛ kolosinsinnanw ye. O la aw bɛ se k’a ye ko `KANSL1` jamu nafa ka bon cogo min na an farikolo yɔrɔw ni sigida suguya caman yiriwali n’u baaracogo ɲuman na.

Yala nin bana in bɛ sɔrɔ cɛya la wa? (Ciyɛn)

Cullen-de Vries syndrome (KdVS) ye bana ye min bɛ se ka ciyɛn ta i n’a fɔ ``autosomal dominant'' . N’an y’a fɔ cogo nɔgɔman na, ni den ye o jamu caman ɲɔgɔnna ciyɛn ta bangebaga kelen dɔrɔn fɛ, den bɛ se ka nin bana in sɔrɔ. O bɛ tali kɛ jamu caman cili walima u bɔli la seli kelen-kelen bɛɛ la.

Nka, a tɛ kɛ tuma bɛɛ fɛn ye min bɛ sɔrɔ bangebagaw fɛ. Tuma dɔw la, o bana bɛ se ka kɛ k’a sɔrɔ a ma kɛ cogo si la, de novo. O kɔrɔ ye ko denbaya kɔnɔ mɔgɔ si ma deli ka bana in sɔrɔ fɔlɔ, wa jamu yeli bɛ se ka kɛ a siɲɛ fɔlɔ la den ka bangekɔlɔsi fɛɛrɛw yiriwali waati, walima den daminɛ waati. O la, a bɛ se ka kɛ den ka bana sɔrɔ hali ni o bana ma sɔrɔ denbaya kɔnɔ mɔgɔ si fɛ.

Dɔgɔtɔrɔw bɛ o bana in sɛgɛsɛgɛ cogo di?

Ni aw bɛ sigasiga ko nin bana in bɛ aw den na, dɔgɔtɔrɔ bɛna min kɛ fɔlɔ, o ye ka aw den sɛgɛsɛgɛ ka ɲɛ ani ka aw ɲininka a taamasiɲɛw la. O bɛna aw dɛmɛ ka faamuyali ɲuman sɔrɔ aw den ka yiriwali n’a ka kɛwalew kan.

O kɔfɛ, walasa ka nin bana in dafa ka ɲɛ, a ka kan ka sɛgɛsɛgɛli kɛ jamu kan. Ka kɛɲɛ ni jamu caman yeli suguya ye, sɛgɛsɛgɛli suguya min bɛ kɛ, o bɛ se ka ɲɔgɔn ta.

• Chromosomal microarray : Nin sɛgɛsɛgɛli in bɛ se ka a dɔn ni kolosinsinnan yɔrɔ dɔ tɛ yen. O bɛ dɛmɛ ka ‘microdeletion’ (mikɔrɔdeletion) dɔn an ye min fɔ ka tɛmɛ.
• Jɛnɛya sinsinni : O bɛ se ka fɛn misɛnninw dɔn KANSL1 jamu yɛrɛ la.

Ikomi Kuhlman-de Vries syndrome (KdVS) bɛ denmisɛn minnu na, olu bɛɛ tɛ taamasiɲɛ kelen ye, dɔgɔtɔrɔw bɛ se ka sɛgɛsɛgɛli wɛrɛw kɛ walasa ka den ka bana faamuya ka ɲɛ. I n'a fo:

• Yiriwali jateminɛ : O bɛ den ka yiriwali hakɛ ni a ka sekow jateminɛ.
• Echocardiogramme (Echocardiogramme): A bɛ dusukun baaracogo n’a jɔcogo sɛgɛsɛgɛ.
• Balocogo jateminɛ : O bɛna gɛlɛya o gɛlɛya bɛ dumuni walima minni na, o lajɛ.
• Sugunɛbilenni : A bɛ a lajɛ ni gɛlɛya o gɛlɛya bɛ sugunɛ na.
• Magnetic Resonance Imaging (MRI) scan: A bɛ kɔnɔnafɛnw ja caman ta, i n’a fɔ kunsɛmɛ.
• X-ray : Walasa ka gɛlɛyaw ɲini kolotugudaw la, i n’a fɔ sɔgɔsɔgɔninjɛ.

Bɛɛ man kan ka nin sɛgɛsɛgɛli ninnu bɛɛ kɛ. Dɔgɔtɔrɔw bɛ sɛgɛsɛgɛli minnu kɛ ka kɛɲɛ ni den ka bana taamasiɲɛw ni a magow ye, olu bɛ a latigɛ.

Koolen-de Vries ka bana furakɛcogo jumɛnw bɛ yen?

Sisan, fura tɛ yen min bɛ wele ko Koolen-de Vries Syndrome. O bɛ kɛ bawo a ye bana ye min bɛ sɔrɔ jamu fɛ. Nka, furakɛli ni furakɛli suguya caman bɛ yen minnu bɛ se ka den dɛmɛ a ka bana taamasiɲɛw kunbɛn, ka a ka ɲɛnamaya kɛcogo ɲɛ, ani k’a dɛmɛ ka yiriwa fo ka se a seko bɛɛ ma. Nin furakɛli ninnu bɛ kɛ ka kɛɲɛ ni den magow ye.

Furakɛcogo minnu bɛ kɛ

Tuma caman na, dɔgɔtɔrɔw bɛ furakɛli suguya caman fɔ:

• Baarakɛcogo furakɛli : O bɛ den dɛmɛ ka farikoloɲɛnajɛ kɛcogo ɲumanw sɔrɔ (misali la, butɔni, sɛbɛnni) ani farikoloɲɛnajɛ kɛcogo juguw (misali la, boli ni panni) minnu ka kan ka kɛ walasa ka don o don baara kɛ.
• Farikoloɲɛnajɛ : Farikoloɲɛnajɛla bɛ dɛmɛ don ka den fasaw barika bonya, ka balansi ɲɛ, ani ka lamaga nɔgɔya i n’a fɔ taama. O nafa ka bon kosɛbɛ denmisɛnw ma minnu ka bana bɛ wele ko ``hypotonia.''
• Kuma furakɛli: O bɛ dɛmɛ ka se sɔrɔ gɛlɛyaw kan kuma ni hakilinaw fɔli la. Kuma furakɛlikɛlaw bɛ baara kɛ ni fɛɛrɛ suguya caman ye i n’a fɔ ja, taamasiyɛnw, ani kumaminɛnw.

Furakɛli wɛrɛw ni fɛɛrɛ wɛrɛw

Ka kɛɲɛ ni den ka bana taamasiɲɛw ye, furakɛli wɛrɛw bɛ se ka kɛ:

• Kɔnɔboli fura : Denmisɛn minnu ka kirinni bɛ u la, olu ka kan ka fura di u ma walasa k’u kunbɛn.
• Dumunikɛminɛn bilali balodɛsɛ gɛlɛyaw kama: Denmisɛn minnu ka dumuni ni minfɛnw munumunu walima u sin ka gɛlɛn, a bɛ se ka kɛ u ka kan ka balodɛsɛ bila nugu fɛ walima kɔnɔbara fɛ ka taa kɔnɔbara la walasa ka balo wajibiyalen di u ma.
• Opereli : Opereli bɛ se ka kɛ bana dɔw la i n’a fɔ sɔgɔsɔgɔninjɛ walima cɛya minnu ma jigin.

Lakɔli ni dɛmɛni

Denmisɛnw mako bɛ se ka kɛ dɛmɛ hakɛ wɛrɛw la ni u bɛ kalan kɛ. Denmisɛn dɔw bɛ baara kɛ ka ɲɛ lakɔliso basigilenw na, dɔw mago bɛ kalan dɛmɛ kɛrɛnkɛrɛnnen na . A nafa ka bon kosɛbɛ ka kalan kɛyɔrɔ labɛn min bɛ bɛn den seko ni a magow ma.

Koolen-de Vries bana bɛ mɔgɔ minnu na, olu ka ɲɛnamaya bɛ kɛ cogo di?

Sɛgɛsɛgɛlikɛlaw tɛ se k’a fɔ k’a jɛya ko nin bana in bɛ mɔgɔ minnu na, olu si hakɛ ye mun ye. Ikomi a man ca kosɛbɛ, hali bi, kalan kuntaalajan caman tɛ kɛ a kan. Nka, ka da kunnafoniw kan minnu bɛ sen na sisan, a ka c’a la, a bɛ fɔ ko nin bana in bɛ mɔgɔ minnu na, olu bɛna ɲɛnamaya fo ka se balikuya ma .

Ne ka kan ka mun makɔnɔ ni Kuhl-de Vries syndrome (KdVS) bɛ ne den na?

Koolen-de Vries Syndrome bɛ denmisɛn minnu na, olu ka ɲɛnamaya bɛ se ka ɲɔgɔn ta kosɛbɛ ka kɛɲɛ ni u taamasiɲɛw juguya ye. A bɛ se ka kɛ ko aw den ka kan ka taa dɔgɔtɔrɔso wɛrɛw la ani ka taa dɔgɔtɔrɔsow la tuma caman. Furakɛli ni fura tali bɛ se ka kɛ u ka ɲɛnamaya yɔrɔba dɔ ye. Ani fana, bana in bɛ denmisɛn dɔw la, a bɛ se ka kɛ ko u mago tɛ dɔgɔtɔrɔso la walima ka furakɛli kɛ tuma caman i n’a fɔ tɔw.

Fɛn min nafa ka bon kosɛbɛ, o ye k’i hakili to a la ko i kelen tɛ. Aw den ka dɔgɔtɔrɔw ni furakɛlikɛlaw bɛ aw fɛ sira bɛɛ la.

Aw bɛ se ka aw den dɛmɛ a ka dɛmɛ sɔrɔ a mago bɛ min na lakɔliso la. o bɛ se ka kɛ kalan kɛrɛnkɛrɛnnenw ye walima kalanfa dɔ . Aw bɛ kuma aw den karamɔgɔw ni lakɔli ɲɛmɔgɔw fɛ walasa k’u dɛmɛ u mago bɛ nafolo minnu na. Misali la, ni kuma gɛlɛya bɛ aw den na, aw ye aw jija a ni kumalasela dɔ bɛ baara kɛ ɲɔgɔn fɛ.

Kuhlman-de Vries Syndrome (KdVS) bɛ mɔgɔkɔrɔba minnu na, olu ka teli ka gɛlɛya sɔrɔ ka ɲɛnamaya kɛ u yɛrɛ ma. Nin ye fɛn ye min ka kan ka jateminɛ ɲɔgɔn fɛ n’u ladonbagaw ni dɔgɔtɔrɔw ye, ka kɛɲɛ ni mɔgɔ kelen-kelen bɛɛ ka ko ye.

Ni aw y’a ye ko Kuhlman-de Vries Syndrome (KdVS) bɛ aw den na, a ka ca a la, aw bɛ dusukunnata suguya caman sɔrɔ, i n’a fɔ dusukasi, jɔrɔ, ani laala hali dimi. A man nɔgɔ k’o dusukunnataw kunbɛn. Nka, n b’a fɛ k’i hakili jigin ko i kelen tɛ. Aw den ka dɔgɔtɔrɔw, furakɛlikɛlaw ani furakɛlikɛlaw bɛna aw dɛmɛ nin taama in na. K’a ta bana sɛgɛsɛgɛli la ka se furakɛli ma, u cɛsirilen don k’aw dɛmɛ ka aw den ka bana ɲɛnabɔ ani ka aw den dɛmɛ a ka ɲɛnamaya kɛ cogo ɲuman na.

A laban na, cikan min bɛ taa ni a ye so

• Koolen-de Vries Syndrome ye bana ye min man teli ka sɔrɔ jamu fɛ. A bɛ sɔrɔ `KANSL1` jamu jiginni fɛ kolosinsinnan 17 kan.
• Yiriwali kɔtigɛbaliya, hakiliɲagami, ani ɲɛda cogoya danfaralenw ye nin bana in taamasiɲɛba dɔw ye.
• o denmisɛnw ka teli ka nisɔndiya ani ka teriya kɛ .
• Hali ni fura kɛrɛnkɛrɛnnen tɛ yen, furakɛli ni furakɛli suguya caman bɛ yen walasa ka bana taamasiɲɛw kunbɛn ani ka ɲɛnamaya kɛcogo ɲɛ .
• A dɔnni joona ani a kɛcogo wajibiyalenw nafa ka bon kosɛbɛ den ka yiriwali la.
• Ni nin bana in bɛ aw den na, min nafa ka bon kosɛbɛ, o ye ka dɔgɔtɔrɔ ka laadilikanw labato, ka furakɛli fɛɛrɛ wajibiyalenw di a ma, ani ka kanuya ni dɛmɛ caman di den ma .
• Ni aw farala dɛmɛjɛkuluw kan denmisɛnw bangebagaw ye minnu bɛ ni nin bana ninnu ye, o fana bɛ se ka kɛ fanga sɔrɔyɔrɔba ye. Aw kana siga abada ka dɔgɔtɔrɔw ɲininka aw ka ɲininkaliw ni aw haminankow la.

An jigi b’a kan ko nin kunnafoniw y’aw dɛmɛ ka faamuyali dɔ sɔrɔ Koolen-de Vries Syndrome kan.

` Cullen-De Vries Syndrome, Bana minnu bɛ sɔrɔ jamu fɛ, Bonya latɛmɛni, Hakilila tiɲɛni, KANSL1 jamu, kolosinsinnan 17, Denmisɛnw ka kɛnɛya