Yala nin taamasiɲɛ ninnu bɛ aw den na wa? An ka kunnafoni sɔrɔ Shprintzen-Goldberg Syndrome (SGS) kan .

Bi an bɛna kuma jamu bana dɔ kan min man ca, o kɔrɔ ye ko bɛɛ t’a ye. A bɛ wele ko Shprintzen-Goldberg Syndrome (SGS). N’a sɔrɔ i yɛrɛ ma o tɔgɔ mɛn. Nka a nafa ka bon kosɛbɛ ka o bana suguw dɔn, barisa o tuma na, an bɛ se ka bana taamasiɲɛw dɔn joona ani ka dɔgɔtɔrɔw ka ladilikan wajibiyalenw sɔrɔ.

Shprintzen-Goldberg Syndrome (SGS) ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Shprintzen-Goldberg Syndrome (SGS) ye bana ye min man teli ka sɔrɔ jamu fɛ, min bɛ an farikolo yɔrɔ caman minɛ. A bɛ kɛ sababu ye kɛrɛnkɛrɛnnenya la ka denmisɛn ɲɛda cogoya dɔw sɔrɔ minnu tɛ deli ka kɛ, kungolo kolow farali ɲɔgɔn kan joona (o bɛ wele ko ``Craniosynostosis''), kolotugudaw caman caman cili, gɛlɛyaw bɛ sɔrɔ a kunkolo ni a farikolo yɔrɔw la (misali la, hakili yiriwali bɛ mɛn), ani tuma dɔw la dusukunnabana dɔw.

Tɔgɔ fila wɛrɛw bɛ fɔ nin bana in na, ``Marfanoïde-craniosynostose syndrome'' ani ``Shprintzen-Goldberg craniosynostosis syndrome''. Hali n’a bɛ se ka kɛ ko tɔgɔw ka gɛlɛn dɔɔnin, a kunba ye k’a faamu ko nin ye jamu bana ye.

SGS ka ca cogo di?

Tiɲɛ na, Shprintzen-Goldberg Syndrome ye bana ye min man ca kosɛbɛ. Fɔlɔ, furakɛli sɛbɛnw ye nin bana in sɔrɔbaga 50 dɔrɔn de fɔ. O kɔrɔ ye ko nin bana in bɛ mɔgɔ damadɔ dɔrɔn de la diɲɛ kɔnɔ.

Fɛn wɛrɛ min bɛ nin ko in na, o ye ko SGS taamasiɲɛw bɛ tali kɛ jamu bana fila wɛrɛw la minnu bɛ wele ko Marfan Syndrome ani Loeys-Dietz Syndrome, o la a bɛ se ka gɛlɛya dɔɔni dɔgɔtɔrɔw bolo tuma dɔw la k’a sɛgɛsɛgɛ ka ɲɛ. O la, a ka gɛlɛn k’a fɔ tigitigi mɔgɔ hakɛ min bɛ nin bana in na tiɲɛ na.

Danfara jumɛn bɛ Shprintzen-Goldberg ka bana, Marfan ka bana ani Loeys-Dietz ka bana cɛ?

Hali ni nin bana saba ninnu taamasiɲɛw bɛ se ka kɛ i n’a fɔ u bɛ ɲɔgɔn ta, u bɛ sɔrɔ jamu caman cili fɛ . Kɛrɛnkɛrɛnnenya la, SGS bɛ mɔgɔ minnu na, olu ka teli ka hakiliɲagami sɔrɔ. U fana ka dusukunnabana farati ka dɔgɔn ka tɛmɛ Marfan ka bana ni Loeys-Dietz bana bɛ minnu na. Nka i hakili to a la ko o fɛnw bɛɛ bɛ se ka ɲɔgɔn ta mɔgɔ kelen-kelen bɛɛ la.

Shprintzen-Goldberg Syndrome (SGS) sababuw ye mun ye?

A ka c’a la, SGS sababuba ye fɛn dɔ jiginni ye min bɛ wele ko `(SKI)` an farikolo la. Nin SKI jamu in bɛ farikolojɔlifɛn dɔ dilan min bɛ dɛmɛ don an ka farikolokisɛw ka baara nafama caman na, i n’a fɔ bonya, tilali, lamaga, kɔgɔli ani saya.

Aw ye miiri dɔrɔn, ikomi nin SKI furakisɛ in bɛ an farikolo yɔrɔ suguya caman na, ni fɛn dɔ Changé o gene in na, a bɛ se ka nɔ bila farikolo yɔrɔw la. O de kama an bɛ taamasiɲɛ suguya caman ye SGS la.

Nka, SGS banabagatɔ dɔw tɛ ni SKI jamu jiginni ye, o la dɔnnikɛlaw bɛ ka sɛgɛsɛgɛli kɛ hali bi bana in sababu wɛrɛw la minnu bɛ se ka kɛ o ko suguw la.

Yala nin ye fɛn ye min bɛ bɔ mɔgɔw la wa?

A ka ca a la, Shprintzen-Goldberg Syndrome tɛ ciyɛnta ye.A ka c’a la, o jamu jiginni bɛ kɛ k’a sɔrɔ a ma kɛ cogo si la, o kɔrɔ ye ko kɔnɔmaya kɔfɛ, denso kɔnɔna na. O la, nin bana in bɛ mɔgɔ caman na, bana in tɛ u ka denbaya kɔnɔ.

Nka, a man teli kosɛbɛ , bana in bɛ se ka tɛmɛ bangebaga fɛ ka taa den wɛrɛ la. Ni a tɛmɛna, a bɛ kɛ cogo la min bɛ wele ko autosomal dominant. N’an y’a fɔ cogo nɔgɔman na, o kɔrɔ ye ko hali ni den ye o jɛnɛya caman ciyɛn ta bangebaga kelen dɔrɔn fɛ, den bɛ se ka bana in sɔrɔ hali bi.

Shprintzen-Goldberg Syndrome (SGS) taamasiɲɛw ye jumɛnw ye?

SGS taamasiɲɛw bɛ se ka ɲɔgɔn ta kosɛbɛ mɔgɔ ni mɔgɔ cɛ. Mɔgɔ dɔw ka bana taamasiɲɛw ka nɔgɔn kosɛbɛ, ka sɔrɔ a taamasiɲɛ jugumanw bɛ se ka kɛ dɔw la. Nin taamasiɲɛ ninnu bɛ se ka farikolo yɔrɔ wɛrɛw de minɛ.

Kungolo kolotugudaw faralen ɲɔgɔn kan joona taamasiɲɛw (`(Craniosynostosis)`):

Ni den kunkolo kolow farala ɲɔgɔn kan ka kɔn a waati ɲɛ, kɔnɔbara la walima a bange waati, bana min bɛ wele ko ``Craniosynostosis'', a taamasiɲɛw i n'a fɔ:

• Kungolo janyalen, nɔgɔlen.
• Ɲɛw ni ɲɔgɔn cɛ janya bɛ bonya, ɲɛw bɛ bɔ ɲɛfɛ walima ka jɛngɛ ka taa duguma.
• Dawolo sanfɛla, nɔgɔlen (da sanfɛla).
• Ɲɛda min ka bon, min bɛ ye kɛnɛ kan.
• Jiginni bɔgɔdaga fitinin dɔ.
• Tulo bɛ bila duguma ka tɛmɛ a cogo kɔrɔ kan, wa tuma dɔw la u bɛ kɔsegin.

Kolotugudaw la bana wɛrɛw:

O kɔ fɛ, fɛn wɛrɛw bɛ Se ka Yɛlɛma kolomayɔrɔ la i n’a fɔ:

• Jogindaw ka lamaga-lamagali kojugu.
• Kuluba senna.
• Disi bɛ bɔ ɲɛfɛ walima a bɛ jigin (Pectus excavatum/carinatum) kɔnɔ.
• Sɔgɔsɔgɔninjɛ (Scoliosis).
• Bolo minnu bɛ kɔrɔta kudayi (`(Camptodactyly)`).
• A janya ka ca ni bolokɔniw ni senw ye minnu bɛ kɛ cogo la.
• Bolo janw, finmanw (`(Arachnodactyly)`). Dɔw b’a fɔ k’u bɛ i n’a fɔ wulu senw.

Mɔgɔ wɛrɛw fana bɛ se ka nin taamasiɲɛ ninnu sɔrɔ:

• Sugunɛbilenni, misali la, ji camanba min bɛ sɔrɔ kunsɛmɛ na (hydrocephalus).
• Yiriwali latɛmɛni ani hakiliɲagami nɔgɔman fo ka se a danma ma.
• Dumunikɛcogo gɛlɛyaw, misali la kɔnɔboli walima kɔnɔbara lankolonya ka mɛn (Gastroparesis).
• Kɔnɔbara walima kɔnɔbara basigilen (`(Hernias)`).
• Fari finman, i n’a fɔ a bɛ ye a fɛ, ani kurukuru nɔgɔya.
• Ninakili gɛlɛya.
• Farikolo fanga dɔgɔyali (`(Hypotonia)`). O kɔrɔ ye ko farikolo bɛ a ye ko ɲɛnamaya tɛ min na.

Dusukun taamasiɲɛ minnu man teli ka sɔrɔ:

Ninnu tɛ kɛ bɛɛ la, nka mɔgɔ dɔw bɛ se ka dusukunnabanaw sɔrɔ i n’a fɔ ninnu:

• Aortic aneurysme (aorte kogo fanga dɔgɔyali).
• Joli bɛ woyo kɔfɛ barisa aorte dawolo tɛ datugu ka ɲɛ (Aortic regurgitation).
• Aorte ju bonya (`(Aortic root dilation)`).
• Joli bɛ bɔ dusukun tantanni na (`(Mitral valve regurgitation)`).
• Mitral valve prolapse (dusukun mitral valve baarakɛcogo jugu).

Min nafa ka bon, o ye ko nin taamasiɲɛ ninnu bɛɛ tɛ SGS banabagatɔ bɛɛ la. A bɛ se ka kɛ u damadɔ dɔrɔn de bɛ mɔgɔ dɔw la, wa a taamasiɲɛw juguya bɛ se ka ɲɔgɔn ta.

Shprintzen-Goldberg Syndrome (SGS) bɛ sɔrɔ cogo di?

SGS sɛgɛsɛgɛli bɛ se ka gɛlɛya dɔɔni. I n’a fɔ n y’a fɔ cogo min na ka tɛmɛ, barisa a ye bana ye min man teli ka sɔrɔ, wa a bɛ se ka ɲagami ni Marfan Syndrome walima Loeys-Dietz Syndrome ye, a sɛgɛsɛgɛli bɛ se ka mɛn tuma dɔw la.

Dɔgɔtɔrɔ bɛ bana sɛgɛsɛgɛli kɛ ka da a taamasiɲɛw ni a taamasiɲɛw kan fɔlɔ. O kɔrɔ ye ka den farikolo cogoya, a yiriwali, ani kɛnɛya gɛlɛya wɛrɛw sɛgɛsɛgɛ koɲuman. Tuma dɔw la, jamu sɛgɛsɛgɛli bɛ se ka SKI jamu jiginni dafa. Nka, ikomi nin jamu jiginni tɛ mɔgɔ minnu na, olu fana bɛ se ka SGS sɔrɔ, sisan sɛgɛsɛgɛli kɛrɛnkɛrɛnnen wɛrɛw tɛ yen minnu bɛ se ka dɛmɛ don bana sɛgɛsɛgɛli la.

Shprintzen-Goldberg Syndrome (SGS) bɛ furakɛ cogo di?

A fɔ man di nka sisan, fura kɛrɛnkɛrɛnnen tɛ nin bana in na. Shprintzen-Goldberg Syndrome furakɛli kunba ye ka bana taamasiɲɛw ɲɛnabɔ ani ka banabagatɔ dɛmɛ a ka ɲɛnamaya kɛ cogo ɲuman na.

Furakɛli suguyaw bɛ se ka ɲɔgɔn ta, ka kɛɲɛ ni banabagatɔ ka bana taamasiɲɛw ye. Misali damadɔw filɛ nin ye:

• Ka taama nɔgɔya ni senna walima kɔkiliw donli ye (`(braces)`).
• Baara kɛli ni dumunikɛminɛn ye, ni a mago bɛ a la, walasa ka balo ɲuman sɔrɔ.
• Fura minnu bɛ kɛ ka dusukunnabana furakɛ.
• Opereli min bɛ kɛ walasa ka dusukunnabana walima kolo gɛlɛyaw latilen kungolo, kɔkolo walima disi la.
• Ni fiɲɛbɔyɔrɔ datugulen don, opereli da (tracheostomie) bɛ se ka kɛ kɔ ɲɛfɛ.

Ani fana, aw ka dɔgɔtɔrɔ bɛ se ka nin sɛgɛsɛgɛli ninnu fɔ siɲɛ kelen san kɔnɔ walima san fila o san fila, barisa u bɛ se ka aw dɛmɛ ka a dɔn ni fɛn dɔw bɛ aw ka bana na:

• Kolow sɛgɛsɛgɛli.
• Echocardiogramme sɛgɛsɛgɛli walasa ka dusukun kɔlɔsi.
• Angiography magnétique résonance (MRA) walima angiography tomography computé (CTA) sɛgɛsɛgɛliw walasa ka joli siraw sɛgɛsɛgɛ.
• Aw bɛ a lajɛ ni fɛn o fɛn bɛ yelikɛ kolotuguda la (X-rays).

A bɛ se ka kɛ ko dɔgɔtɔrɔ kɛrɛnkɛrɛnnenw ka jɛkulu dɔ ka kan ka kɛ walasa ka Shprintzen-Goldberg Syndrome bɛ mɔgɔ min na, o tigi furakɛ. Nin ekipu in bɛ se ka kɛ mɔgɔ kɛrɛnkɛrɛnnenw ye i n’a fɔ:

• Dusukunnataw furakɛla
• Kungolo ni ɲɛda operelikɛla (kunkolo ni ɲɛda kolo operelikɛla) .
• Jɛnkulu dɔnbaga
• Sugunɛ ni hakiliɲagami operelikɛla (`(Neurosurgeon)`)
• Baarakɛla - Mɔgɔ min bɛ mɔgɔw dɛmɛ ka don o don baara kɛ nɔgɔya la.
• Ɲɛdɔgɔtɔrɔ - yeli gɛlɛyaw kama (misali la, ɲɛnayeli).
• Da kɔnɔ operelikɛla - Gɛlɛya minnu bɛ ɲinw ni dawolo la.
• Kolotugudaw operelikɛla (kolo, kolotugudaw ani kɔkolo operelikɛla) .
• Denmisɛnw ka dɔgɔtɔrɔ
• Farikoloɲɛnajɛla - Mɔgɔ min bɛ dɛmɛ don ka lamaga ni farikolo baara ɲɛ.
• Hakilila-dɔnbaga
• Radiologist (`(Radiologist)`) - ka furakɛli ja lajɛ.
• Kuma furakɛla (`(Kunnafoni furakɛla)`) - kuma gɛlɛyaw kama.

O mɔgɔw bɛɛ ka dɛmɛ de fɛ, an bɛ se ka furakɛli ni ladonni ɲuman kɛ banabagatɔ la.

Yala Shprintzen-Goldberg Syndrome (SGS) bɛ se ka bali wa?

Sisan, fɛɛrɛ si tɛ yen walasa ka jamu jiginni bali min bɛ Shprintzen-Goldberg Syndrome bila mɔgɔ la. O bɛ kɛ bawo a ka teli ka kɛ k’a sɔrɔ a ma kɛ cogo si la. Ani fana, dɔnnikɛlaw ma da a la fɔlɔ ko fɛn wɛrɛ jumɛnw bɛ a la ka fara SKI jamu kan.

Ni Shprintzen-Goldberg Syndrome (SGS) bɛ mɔgɔ si hakɛ la?

SGS bɛ mɔgɔ min na, o si hakɛ (prognose) bɛ bɔ bana juguya la. Ni bana taamasiɲɛ nɔgɔmanw bɛ u la, a bɛ se ka kɛ ko a tɛ nɔba bila mɔgɔ si hakɛ la. Nka, ni a bɛ nɔba bila kunsɛmɛ, dusukun walima dumunikɛcogo la, a si bɛ se ka surunya.

Ne ka kan ka mun wɛrɛ ɲininka ne ka dɔgɔtɔrɔ la Shprintzen-Goldberg Syndrome (SGS) ko la?

Ni aw y’a ye ko Shprintzen-Goldberg Syndrome bɛ aw den na, aw bɛ se ka ɲininkali caman kɛ. O waati suguw la, a ka ɲi ka ɲininkaliw kɛ aw ka dɔgɔtɔrɔso jɛkulu la i n’a fɔ:

• Yala o fɛn falen-falen in bɛ sɔrɔ ciyɛn fɛ wa, walima a kɛra danma-danma ye wa?
• Nin bana in bɛ nɔ bila den fari la sigida jumɛnw na?
• Ne den mago bɛ furakɛli jumɛn na?
• Taamasiɲɛ walima taamasiɲɛ jumɛnw de ka kan ka taa dɔgɔtɔrɔso la joona?
• Yala ne den bɛna to ka taa a fɛ a ka yiriwali la walima a bɛna kɛ hakiliɲagami ye wa?
• Yala nin bana in bɛna ne den ka ɲɛnamaya surunya wa?
• An ka kan ka dɔgɔtɔrɔ kɛrɛnkɛrɛnnen sugu jumɛnw ye? Siyɛ joli?
• Yala ne den kolo, a dusukun, a joli siraw ani a kunkolo ka kan ka to ka lajɛ wa?
• Yala dɛmɛjɛkulu dɔw bɛ yen minnu bɛ se k’an dɛmɛ ka ɲɛnamaya kɛ ni nin bana in ye wa?
• Yala aw bɛ ladilikan di walima ka sɛgɛsɛgɛli kɛ jamu kan wa?

Hali ni Shprintzen-Goldberg Syndrome ye bana ye min man teli ka sɔrɔ jamu fɛ, a nafa ka bon ka a dɔn ani ka dɔgɔtɔrɔ ka ladilikan ɲini joona. Ni aw b’a miiri ko nin taamasiɲɛ ninnu bɛ aw den na, aw bɛ taa dɔgɔtɔrɔ kɛrɛnkɛrɛnnen dɔ fɛ walasa ka bana sɛgɛsɛgɛcogo ɲuman sɔrɔ.

A laban na, aw hakili to nin na (Take-Home Message) .

Shprintzen-Goldberg Syndrome (SGS) ye bana ye min ka teli ka sɔrɔ jamu la, min bɛ se ka fɛn caman Changements lase den ɲɛda la, a kolotugudaw la, a kunkolo la, ani a bɛ se ka kɛ hali dusukun na.O bɛ se ka kɛ ciyɛn ye, walima a bɛ se ka kɛ k’a sɔrɔ a ma kɛ cogo si la.

Hali ni fura tɛ yen, furakɛli suguya caman bɛ yen minnu bɛ se ka dɛmɛ don ka bana taamasiɲɛw kunbɛn. Ni dɔgɔtɔrɔ kɛrɛnkɛrɛnnen dɔ ka dɛmɛ ye, aw den bɛ se ka ɲɛnamaya kɛ ka ɲɛ. Ni aw bɛ sigasiga ko nin taamasiɲɛ ninnu bɛ aw den na, aw kana siran ka kuma dɔgɔtɔrɔ dɔ fɛ. Ni aw ye bana sɛgɛsɛgɛ joona ani ka a furakɛ ka ɲɛ, o bɛ se ka danfaraba don. I hakili to a la ko i kelen tɛ. Dɛmɛjɛkuluw ni nafolomafɛnw bɛ yen minnu bɛ se ka denbayaw dɛmɛ minnu bɛ nin bana ninnu kunbɛn.

` Shprintzen-Goldberg Syndrome, SGS, Bana minnu bɛ sɔrɔ jamu fɛ, Kungolodimi, SKI jamu, Kolotugudaw la, yiriwali kɔtigɛbaliya, Bana minnu man teli ka sɔrɔ