Yala aw bɛ Niemann-Pick bana dɔn wa? An ka kuma nin bana in kan min man teli ka sɔrɔ!

Yala i delila ka fɛn dɔ mɛn min tɔgɔ ye ko Niemann-Pick Disease wa? N’a sɔrɔ nin tɔgɔ in ye ko kura ye i bolo. Tiɲɛ na, o ye bana ye min man ca kosɛbɛ, min bɛ sɔrɔ jamu fɛ, min bɛ boli denbayaw kɔnɔ. A bɛ kɛ sababu ye ka fɛn nafama dɔw caya an farikolo la, kɛrɛnkɛrɛnnenya la tulumafɛnw, minnu tɛ se ka kunbɛn. O la, an ka kuma bana in kan dɔrɔn bi, wa?

Niemann-Pick bana ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Niemann-Pick bana ye bana ye min na tulumafɛnw, i n’a fɔ tuluw, asidi tulumaw ani kolosinsinnanw, olu bɛ dalajɛ an ka farikolokisɛw la sanni u ka tiɲɛ ka ɲɛ ka wuli ka kɛ fanga ye. Ninnu ye farikoloɲɛnajɛ banaw ye minnu bɛ sɔrɔ ciyɛn fɛ , o kɔrɔ ye ko u bɛ se ka bɔ bangebagaw la ka taa denw na. O cogo la, tulumafɛnw bɛ dalajɛ yɔrɔw la i n’a fɔ kunsɛmɛ, ɲɛgɛnɛsira, sugunɛ, fogonfogon ani kolotugudaw.

Nin bana in taamasiɲɛ minnu ka teli ka ye, olu ye jumɛnw ye?

Ni tulumafɛnw cayara o cogo la, taamasiɲɛ suguya caman bɛ se ka kɛ. Mɔgɔ dɔw bɛ gɛlɛyaw sɔrɔ minnu bɛ tali kɛ farikoloɲɛnajɛw la.

• Ataxia (Ataxie): O ye sebaliya ye ka farikolo yɔrɔw minɛ ni laɲini ye, misali la, taama.
• Farikolo fanga dɔgɔyali.
• Sugunɛ baara dɔgɔyali dɔɔni dɔɔni.
• A bɛ se ka maga a la kojugu.
• Sɔgɔsɔgɔninjɛ : O kɔrɔ ye ko farikolo yɔrɔw bɛ gɛlɛya ani u bɛ lamaga cogo la min tɛ bɛn.
• Ka sennatiɲɛ k’a sɔrɔ a bɛ kuma.

Ka fara o kan, dumuni ni munumunu gɛlɛya bɛ se ka sɔrɔ, ɲɛnamini, kalanbaliya, ani sugunɛ ni sɔgɔsɔgɔninjɛ bɛ se ka bonya. Tuma dɔw la, ɲɛkisɛw bɛ se ka kɛ sankaba ye ani ɲɛkisɛ bilenman dɔ bɛ se ka kɛ ɲɛkisɛ cɛmancɛ la.

Yala Niemann-Pick bana suguya kunbabaw bɛ yen wa?

Ɔwɔ, bana in suguya saba de bɛ yen: suguya A, B ani C.

A suguya: .

Nin ye bana in jugumanba ye. A ka ca a la a bɛ den fitiniw minɛ, a ka ca a la sani u ka kalo damadɔ sɔrɔ . A ka ca kɛrɛnkɛrɛnnenya la Yahutuw ka denbayaw kɔnɔ.

• A taamasiɲɛw ye hakili bɔli ye dɔɔni dɔɔni.
• Sugunɛ ni sɔgɔsɔgɔninjɛ bɛ bonya.
• Nɔgɔw bɛ funu.
• Kalo wɔɔrɔ kɔnɔ, a kunkolo tiɲɛni juguman bɛ se ka kɛ.

A fɔ man di nka, nin den suguya A ninnu man teli ka tɛmɛ kalo 18 kan ni u kɛra ɲɔgɔn cɛ.

B suguya: .

A ka c’a la, o bɛ kɛ denmisɛnya la, san tan walima san tan ni fila lamini na .

• O mɔgɔw bɛ se ka taamasiɲɛw fana sɔrɔ i n’a fɔ ataxia ani peripheral neuropathy.
• Nka a ka c’a la, a tɛ nɔba bila mɔgɔ kunkolo la.
• O mɔgɔw bɛ se ka sugunɛ ni sugunɛ bonya ani fogonfogon gɛlɛyaw fana sɔrɔ.

A ni B suguya fila bɛɛ kun:

Nin suguya fila in yiriwali kunba ye ko anzimu sphingomyelinase , min bɛ dɛmɛ ka tulumafɛn tiɲɛ min bɛ wele ko sphingomyelin, o min bɛ an farikolo selilɛri bɛɛ la, o tɛ baara kɛ ka ɲɛ. O de kosɔn, tulumafɛn min bɛ wele ko sphingomyelin, o bɛ lajɛ farikolokisɛw la ka kɛ baga ye.

C suguya: .

Nin sugu bɛ se ka daminɛ a daminɛ na, walima a bɛ se ka bɔ funankɛya walima balikuya waati la .

• o bɛ sɔrɔ farikolojɔlifɛn fila dɛsɛ fɛ minnu bɛ wele ko NPC1 walima NPC2 farikolojɔlifɛnw .
• O mɔgɔw bɛ se ka kɛ sababu ye ka u kunkolo tiɲɛ kosɛbɛ, o bɛ se ka kɛ sababu ye ka sanfɛla ni duguma filɛli gɛlɛya, ka taama ni munumunu gɛlɛya, ani ka yeli ni mɛnni tiɲɛ dɔɔni dɔɔni.
• Sugunɛ ni sugunɛ fana bɛ se ka bonya dɔɔni dɔɔni.
• Fɔlɔ, mɔgɔ minnu bɛ nin suguya C in na, minnu ka bɔnsɔnw tun bɛ ɲɔgɔn fɛ yɔrɔ la min bɛ wele ko Nouvelle-Écosse, olu fana tun bɛ wele suguya D. Nka sisan a bɛ suguya C jukɔrɔ.

Yala fura bɛ o la wa?

Tiɲɛ na, fura tɛ Niemann-Pick bana na. Sisan, furakɛli dɛmɛnanw dɔrɔn de bɛ yen minnu bɛ bana taamasiɲɛw kɔlɔsi ani ka lafiya di. Tuma caman na, o denmisɛnniw bɛ se ka bɔnɛ u ka ɲɛnamaya la banakisɛw fɛ walima farikolo fanga dɔgɔyali dɔɔni dɔɔni.

• Sisan, fura ɲuman si tɛ yen min bɛ se ka kɛ A suguya bɛ mɔgɔ minnu na.
• suguya B bɛ mɔgɔ minnu na , olu dɔw kolotugudaw donna u la . Ɲininikɛlaw dalen b’a la fana ko fɛn minnu bɛ i n’a fɔ anzimu caman cili furakɛli ani jeninida furakɛli , olu bɛ se ka kɛ nafa ye B suguya B bɛ mɔgɔ minnu na don nataw la.
• Aw bɛ aw ka dumuni ni aw ka minfɛnw kɔlɔsi, o tɛ se ka nin tulu suguya ninnu bali ka dalajɛ farikolokisɛw ni farikolo yɔrɔw la.

Bana in nata ye mun ye?

Nin bana in nata, o kɔrɔ ye ko banabagatɔ bɛ se ka ɲɛnamaya kɛ waati hakɛ min na ani a ka ɲɛnamaya bɛna kɛ cogo min na, o bɛ ɲɔgɔn ta ka kɛɲɛ ni bana suguya ye.

• Den minnu bɛ ni suguya A ye, i n’a fɔ a fɔra cogo min na ka tɛmɛ, olu bɛ sa denmisɛnninya la .
• B suguya bɛ denmisɛn minnu na , olu bɛ se ka mɛn dɔɔni ka tɛmɛ tɔw kan, nka a bɛ se ka kɛ a ka kan ka oksizɛni fara u kan ka a sababu kɛ a nɔ bɛ fogonfogon la.
• C suguya bɛ mɔgɔ minnu na, olu si hakɛ tɛ kelen ye. Mɔgɔ dɔw bɛ se ka sa u denmisɛnman, nka mɔgɔ dɔw minnu ka bana taamasiɲɛw man jugu, olu bɛ se ka ɲɛnamaya fo ka se balikuya ma .

Sɛgɛsɛgɛli kura jumɛnw bɛ ka kɛ o ko la?

Sɛgɛsɛgɛli bɛ senna Niemann-Pick bana kan diɲɛ yɔrɔ caman na, kɛrɛnkɛrɛnnenya la, jamana ka hakiliɲagami ni sɔgɔsɔgɔninjɛ baarada la (NINDS) Ameriki, ani fanaBaarakɛda minnu bɛ i n’a fɔ jamana ka kɛnɛyako baarada (NIH) olu de bɛ ka ɲɛmɔgɔya ta o la.

• U tun bɛ ka jeninida ɲini minnu bɛ kɛ sababu ye ka bana in sɔrɔ. Misali la, u ye jɛnɛya nafama fila jira (NPC1 ani NPC2) minnu bɛ Niemann-Pick suguya C lase mɔgɔ ma.
• Dɔnniyakɛlaw fana bɛ ka sɛgɛsɛgɛli kɛ fɛɛrɛ minnu fɛ o tulu dalajɛlen bɛ farikolo tiɲɛ.
• Sɛgɛsɛgɛliw fana bɛ senna walasa ka biyomarkɛriw , walima taamasiɲɛ minnu b’a jira ko bana dɔ bɛ yen, olu dɔn, minnu bɛ se ka dɛmɛ don ka tulumafɛnw marali banaw dɔn joona. Jigiya bɛ a la ko ninnu bɛna dɛmɛ ka bana sɛgɛsɛgɛli ɲɛ.

A laban na, i ka kan k'a fɔ ko...

Okey, donc n jigi b’a kan ko hakilina dɔw bɛ aw bolo ka bɔ an ye kuma min fɔ Niemann-Pick Disease kan.

Aw ye aw hakili to nin na: Niemann-Pick bana ye bana ye min man teli ka sɔrɔ, a bɛ sɔrɔ jamu fɛ, min bɛ kɛ sababu ye ka tulu dalajɛ farikolo la cogo la min tɛ bɛn.

• Nin bana in suguya saba de bɛ yen, A, B, ani C , u kelen-kelen bɛɛ taamasiɲɛw ni u juguya tɛ kelen ye.
• A suguya de ka jugu kosɛbɛ , wa a bɛ den fitiniw de minɛ. B suguya bɛ se ka bɔ denmisɛnya la, C suguya bɛ se ka bɔ san o san.
• Hali bi fura dafalen tɛ o la , furakɛli dɛmɛnanw dɔrɔn de bɛ kɛ minnu bɛ bana taamasiɲɛw kunbɛn.
• Nka ɲininiw bɛ ka taa a fɛ ka fura kuraw sɔrɔ.
• Ni nin taamasiɲɛ ninnu bɛ aw ka denbaya kɔnɔ mɔgɔ dɔ la, walima ni aw b’a fɛ ka kunnafoni caman sɔrɔ nin bana in kan, a ka fisa aw ka taa dɔgɔtɔrɔ kɛrɛnkɛrɛnnen dɔ fɛ walasa ka laadilikan sɔrɔ . Aw bɛ se ka dɛmɛjɛkuluw ni jɛkuluw fana lajɛ minnu bɛ nin bana minnu man ca, olu ni u ka denbayaw dɛmɛ.

An jigi b’a kan ko nin kunnafoniw nafa ka bon aw bolo. Aw ka to kɛnɛya la!

Niemann -Pick Bana, jamu banaw, tulumafɛnw, denmisɛnw ka banaw, hakiliɲagami, bana minnu man ca