Yala nin taamasiɲɛ ninnu bɛ aw den na wa? A bɛ se ka kɛ Hunter Syndrome ye!

Yala aw ye waati dɔw kɔlɔsi aw denmisɛnnin ka yiriwali la, walima fɛn dɔw yeli u cogoya walima u kolotugudaw la kɔsa in na wa? Tuma dɔw la, min bɛ o kow kɔfɛ, o bɛ se ka kɛ bana ye min man teli ka kɛ, an ma fɛn caman mɛn min ko la. Bi an bɛna kuma jamu bana dɔ kan min bɛ wele ko Hunter Syndrome. Aw kana siran ni aw ye nin mɛn, barisa min nafa ka bon kosɛbɛ, o ye ka aw janto a la.

Hunter Syndrome ye mun ye? An k’a faamu cogo nɔgɔman na kosɛbɛ!

N’an y’a fɔ cogo nɔgɔman na, Hunter Syndrome ye bana ye min man teli ka sɔrɔ jamu fɛ. Nin ye bana ye min na sukaro mɔli gɛlɛn dɔw bɛ den farikolo la (minnu bɛ wele ko ``Glycosaminoglycans'' walima ``GAGs'') olu tɛ tiɲɛ ka ɲɛ ani u tɛ sɔgɔ ka ɲɛ. I n’a fɔ an ka so kɔnɔ nɔgɔ bɛ dalajɛ cogo min na n’an m’a fili ka ɲɛ, o sukaro mɔlikuluw bɛ dalajɛ farikolo kɔnɔ, kɛrɛnkɛrɛnnenya la yɔrɔw la minnu bɛ wele ko ``Lisosomes''. Waati tɛmɛnen kɔ, o dalajɛli bɛ daminɛ ka farikolo yɔrɔw ni farikolo yɔrɔ suguya caman tiɲɛ. O tiɲɛni bɛ se ka nɔ bila den farikolo ni a hakili yiriwali la.

Dɔgɔtɔrɔw bɛ Hunter Syndrome tila ka kɛ suguya belebele fila ye:

1. Suguya jugumanba : Nin ye suguya jugumanba ye min bɛ taa ɲɛ joona. O cogo la, den hakililata fana bɛ nɔ bila a la. A ka ca a la, den si bɛ san 6 ni san 8 cɛ, a bɛ daminɛ ka gɛlɛya sɔrɔ don o don baara jɔnjɔnw kɛli la. Hunter Syndrome bɛ mɔgɔ minnu na, olu 60% ɲɔgɔn bɛ nin suguya jugumanba in sɔrɔ.

2. A suguya nɔgɔman: A taamasiɲɛw bɛ na dɔɔni dɔɔni. A bɛ se ka kɛ ko a tɛna nɔba bila hakili sekow la.

Hunter Syndrome bɛ bana kuluba dɔ la min bɛ wele ko ``Mucopolysaccharidoses.`` O la, a bɛ wele fana ko ``Mucopolysaccharidose type II`` walima ``MPS II``.

Hunter Syndrome ka teli ka kɛ cogo di?

Tiɲɛ na, nin ye bana ye min man ca kosɛbɛ. Ani fana, a bɛ cɛdenw de minɛ kosɛbɛ. Jateminɛ na, cɛden 100.000 fo 170.000, kelen ɲɔgɔn dɔrɔn de bɛ nin bana in sɔrɔ. Nka, npogotigininw bɛ se ka kɛ jɛnɛya jiginni tabaga ye min bɛ nin bana in bila mɔgɔ la. O kɔrɔ ye ko hali ni bana taamasiɲɛw tɛ u la, u bɛ se ka jeninida in lase u denw ma.

Denmisɛn min bɛ ni Hunter Syndrome ye, o taamasiɲɛw ye mun ye?

A ka ca a la, nin taamasiɲɛ ninnu bɛ daminɛ ka ye den na min si bɛ san 2 ni san 4 cɛ . An ka taamasiɲɛ kunbabaw lajɛ minnu bɛ se ka ye:

• Joli gɛlɛya, a kɔrɔta gɛlɛya: A bɛ se ka kɛ i n’a fɔ jogindaw "sirilen don".
• Ɲɛda yɔrɔw ka bonya: Yɔrɔ minnu bɛ i n’a fɔ nugu, dawolo ani kan, olu bɛ se ka bonya ani ka kɛ i n’a fɔ u ka gɛlɛn dɔɔni.
• Ɲɛw bɔli kɔfɛ walima ni yɔrɔba bɛ kɛ ɲinw ni ɲɔgɔn cɛ.
• Kungolo ka bon ka tɛmɛ a cogo kɔrɔ kan, disi ka bon, a kɔ ka surun.
• Lamɛnni dɛsɛ (mɛnni dɛsɛ) min bɛ bonya dɔɔni dɔɔni waati tɛmɛnen kɔ.
• Bonya kɔtigɛli : A janya bɛ se ka sumaya, kɛrɛnkɛrɛnnenya la san 5 kɔfɛ.
• Sɔgɔsɔgɔninjɛ ni sugunɛ bonya.
• Kuru finmanw yecogo fari la.

A ka fisa aw kana siran ni aw ye nin taamasiɲɛ kelen walima fila ye, nka ni aw den bɛ to ka tɛmɛ nin taamasiɲɛ kelen kan, a ka ɲi aw ka dɔgɔtɔrɔ ka ladilikan ɲini.

Mun na Hunter Syndrome bɛ sɔrɔ? O sababu ye mun ye?

O sababuba ye 'jyɛnmɔgɔ-yɔrɔ-ko ye `IDS` jamu la. Nin `IDS` jamu in bɛ anzimu dɔ bɔli kɔlɔsi an farikolo la min bɛ wele ko `(Iduronate 2-sulfatase)` walima `(I2S)`. Nin `(I2S)` anzimu in baara ye ka sukaro mɔlikulu gɛlɛnw tiɲɛ minnu bɛ wele ko `(Glycosaminoglycans)` walima `(GAGs)` an ye kuma minnu kan ka tɛmɛ.

O la, Hunter syndrome `(MPS II)` bɛ mɔgɔ min na, nin `(I2S)` anzimu in tɛ sɔrɔ farikolo la, walima a bɛ sɔrɔ hakɛ fitininba la. Komin o anzimu in tɛ yen, o `(GAGs)` sukaro mɔlikuluw bɛ dalajɛ yɔrɔw la minnu bɛ wele ko `(Lysosomes)` farikolokisɛw kɔnɔ. `(Lysosomes)` ye yɔrɔw ye farikolokisɛw kɔnɔ minnu bɛ fɛnɲɛnamafagalanw tiɲɛ ani ka u lasegin u cogo kɔrɔ la. Ikomi `(GAGs)` bɛ dalajɛ o cogo la, `(MPS II)` bana bɛ bana kulu dɔ la min bɛ wele ko `(Lysosomal storage disorder)`. O dalajɛw de kosɔn farikolo yɔrɔ suguya caman ni farikolo yɔrɔ suguya caman bɛ tiɲɛ.

Jɔn de farati ka bon ka nin bana in sɔrɔ?

Ni nin bana in bɛ mɔgɔ dɔ la denbaya kɔnɔ, o kɔrɔ ye ko mɔgɔ min ni a ka ɲɛnamaya kɛcogo bɛ ɲɔgɔn fɛ, a farati ka bon mɔgɔ wɛrɛw ka bana sɔrɔli la.

I n’a fɔ an y’a fɔ cogo min na ka tɛmɛ, cɛdenw ka teli ka nin bana in ciyɛn ta. O bɛ kɛ barisa bana in bɛ tali kɛ X kolosinsinnan na. Aw b’a dɔn, npogotigininw bɛ X kolosinsinnan fila ciyɛn ta, cɛdenw bɛ X kolosinsinnan kelen ni Y kolosinsinnan kelen ciyɛn ta. O la, hali ni sungurunnin ye X kolosinsinnan ciyɛn ta ni nin jamu nafama in ye, X kolosinsinnan kɛnɛman tɔ bɛ se ka anzimu wajibiyalen di. O la, a bɛ se ka kɛ u tɛ bana taamasiɲɛw jira ani ka kɛ a tabaga ye. Nka ni cɛnin ye X kolosinsinnan ciyɛn ta ni o jɛnɛya nafama ye, a bɛna bana in sɔrɔ bawo X kolosinsinnan wɛrɛ t’a la.

Gɛlɛya jumɛnw bɛ se ka sɔrɔ Hunter Syndrome fɛ?

Ka kɛɲɛ ni bana in juguya ye, gɛlɛya suguya caman bɛ se ka sɔrɔ. Dɔgɔtɔrɔw bɛ furaw kɛ ani tuma dɔw la hali opereli walasa ka o gɛlɛyaw kunbɛn. An k’a lajɛ nin gɛlɛya ninnu ye mun ye:

• Ninakili gɛlɛyaw : Ninakili gɛlɛya bɛ se ka sɔrɔ farikolo yɔrɔw falenni ni fiɲɛbɔyɔrɔw datuguli fɛ.
• Dusukunnabana (`(Dusukunnabana)`).
• Joli ni kolotugudaw la, fɛn minnu tɛ kelen ye.
• Sugunɛ baara dɔgɔyali dɔɔni dɔɔni.
• Carpal tunnel syndrome (`(Syndrome de la tunnel carpal)`) Bamako, Mali.: Bana min bɛ sɔrɔ nɛrɛmuguma degun fɛ bolokɔni yɔrɔ la.
• Ɲɛgɛnɛsiraw (`(Hernies)`).
• Bana minnu bɛ i n’a fɔ kunfilanitu (`(Kɔnɔboli)`).
• Taamacogo gɛlɛyaw.

O gɛlɛyaw tɛ kɛ cogo kelen na bɛɛ la. U bɛ se ka ɲɔgɔn ta ka kɛɲɛ ni den ka cogoya ye. O la, a nafa ka bon ka kuma dɔgɔtɔrɔ fɛ tuma bɛɛ ani ka den ka bana dɔn.

Aw bɛ a dɔn cogo di ni Hunter Syndrome bɛ aw la?

Aw den ka dɔgɔtɔrɔ bɛna sɛgɛsɛgɛli caman kɛ walasa ka nin bana in dɔn.

• Sugunɛ sɛgɛsɛgɛli : O bɛ sukaro hakɛ caman sɛgɛsɛgɛ sugunɛ na (u bɛ wele ko GAGs).
• Joli sɛgɛsɛgɛliw : O bɛ se k’a dɔn ni anzimu `(I2S)` ka baara kɛcogo ka dɔgɔn joli la walima ni a tɛ yen. O fana ye bana in taamasiɲɛba dɔ ye.
• Jɛnkulu sɛgɛsɛgɛli : O de b’a jira ko fɛn dɔ bɛ IDS jamu kɛrɛnkɛrɛnnen na.

Hunter Syndrome furakɛcogo jumɛnw bɛ yen?

Hunter Syndrome bɛ furakɛ ka kɛɲɛ ni den ka bana taamasiɲɛw ye. O bɛ ɲini dɔgɔtɔrɔ kɛrɛnkɛrɛnnenw ka jɛkulu dɔ ka dɛmɛ fɛ. Mɔgɔ minnu bɛ se baara suguya caman na, olu bɛ baara kɛ ɲɔgɔn fɛ walasa ka den ka bana ɲɛnabɔ. Furakɛli kunba ye ka bana in taabolo sumaya, ka gɛlɛya minnu bɛ se ka sɔrɔ bana in sababu fɛ, olu dɔn ani k’u furakɛ joona, ani ka den ka ɲɛnamaya kɛcogo ɲɛ.

Furakɛli ɲuman min bɛ sɔrɔ sisan walasa ka nin kuntilenna ninnu sɔrɔ, o ye anzimu caman cili furakɛli ye (`(Enzyme replacement therapy)`). O la, `(I2S)` anzimu min tununna, o bɛ bila hadamaden ka anzimu dɔ nɔ na (`(Idursulfase (Elaprase®))`). A ka ca a la nin furakɛli in bɛ kɛ jolisira fɛ siɲɛ kelen dɔgɔkun kɔnɔ.

Ka fara o kan, ɲininiw bɛ senna sisan jeninida furakɛli (walima jeninida sɛgɛsɛgɛli) kan. O bɛ se ka jigiyaba lase banabagatɔw ma minnu bɛ ni Hunter Syndrome ye don nataw la. Nka, o nɔw bɛ makɔnɔ hali bi.

Yala fɛɛrɛ bɛ yen min bɛ se ka o bali wa?

Ikomi nin ye bana ye min bɛ sɔrɔ jamu fɛ, a ka c’a la, a tɛ se ka bali. Nka, a nafa ka bon kosɛbɛ den min bɛ ni Hunter Syndrome ye, o bangebagaw ka kuma ni jamu ladilikɛla dɔ ye sani u ka den wɛrɛ sɔrɔ. Nin dɔgɔtɔrɔ kɛrɛnkɛrɛnnen in bɛ se ka bangebagaw dɛmɛ u ka farati min bɛ bana in lase den wɛrɛ ma, o faamu.

Hunter Syndrome bɛ mɔgɔ min na, o tigi ka siniɲɛsigi ye mun ye?

O fura dafalen ma sɔrɔ fɔlɔ.Bana in jugumanba bɛ se ka mɔgɔ ka ɲɛnamaya bila farati la. O denmisɛn suguw si bɛ san 10 ni san 20 cɛ. Nka, bana in man ca mɔgɔ minnu na, olu bɛ se ka mɛn kosɛbɛ, fo ka se balikuya ma.

Mɔgɔ caman fɛ, furakɛli minnu bɛ kɛ i n’a fɔ furaw, farikoloɲɛnajɛ, ani opereli, olu bɛ se ka dɛmɛ don ka bana gɛlɛyaw kunbɛn ani ka u ka ɲɛnamaya kɛcogo ɲɛ.

Yala ne den bɛna se ka baara kɛ ka ɲɛ tuguni wa?

Hunter Syndrome bɛ denmisɛn minnu na, olu bɛ se ka gɛlɛya sɔrɔ don o don baaraw ni u ka taama na, ka da a kan u taamasiɲɛw bɛ juguya dɔɔni dɔɔni. A bɛ se ka kɛ ko a ka kan ka fɛn dɔw sɛmɛntiya baara dɔw la. Aw den ka dɔgɔtɔrɔ bɛna kuma aw fɛ baaraw ni furaw kan minnu bɛ se ka aw dɛmɛ ka bana taamasiɲɛw kunbɛn.

Aw ka kan ka taa dɔgɔtɔrɔso la waati jumɛn?

Ni aw den y’a daminɛ ka Hunter Syndrome taamasiɲɛw jira, walima ni aw ye a ye ko a yiriwali bɛ mɛn, aw bɛ taa aw den ka dɔgɔtɔrɔ fɛ joona. Ni aw ye furakɛli daminɛ joona, o bɛ se ka kɛ sababu ye ka farikolo yɔrɔw ni farikolo yɔrɔw tiɲɛni banbali bali.

Aw ka kan ka mun ɲininka dɔgɔtɔrɔ la?

Ni aw y’a dɔn ko Hunter Syndrome bɛ aw den na, aw bɛ se ka dɔgɔtɔrɔ ɲininka nin ɲininkali ninnu na:

• Hunter Syndrome ka jugu cogo di?
• Ne den ka waati kunkurunnin ni kuntaalajan ɲɛfɔli bɛna kɛ mun ye?
• Nin bana in bɛna nɔ bila ne den ka ɲɛnamaya la cogo di?
• Furakɛli suguya jumɛnw bɛ yen?

Aw ye nin ɲininkali ninnu kɛ ani ka sigasiga fɛn o fɛn bɛ aw la, aw k’o jɛya. Sabula ni i bɛ kunnafoni sɔrɔ ka taa a fɛ, i bɛna se ka i den dɛmɛ ka ɲɛ.

Danfara jumɛn bɛ Hunter ni Hurler ka bana cɛ?

Hunter Syndrome ni Hurler Syndrome ye bana fila ye banaw kulu la minnu bɛ wele ko ``Lysosomal storage disorders'', ``Mucopolysaccharidoses''.

Hurler ka bana ye bana jugumanba ye Mucopolysaccharidose type I (MPS I). MPS I kɔnɔ, anzimu alpha-L-idronidase tɛ sɔrɔ. Hurler ka bana ka jugu ka tɛmɛ Hunter ka bana kan.

Cikan min bɛ taa ni a ye so

N y’a faamu ko a bɛ se ka gɛlɛya cogo min na k’a dɔn ko bana dɔ bɛ i den na i n’a fɔ Hunter Syndrome. A bɛ se ka mɔgɔ dusu tiɲɛ, kɛrɛnkɛrɛnnenya la ni aw ye aw den ka ɲɛnamaya kɛcogo mɛn. O waati gɛlɛn in na, i hakili to a la ko i kelen tɛ.

Min nafa ka bon kosɛbɛ, o ye ka baara kɛ ni den ka dɔgɔtɔrɔw ye walasa ka fɛn caman dɔn bana in n’a furakɛcogo kan. Aw ye aw lamini fana ni mɔgɔw ye minnu bɛ aw dɛmɛ, i n’a fɔ aw teriw n’aw somɔgɔw. U ka dɛmɛ n’u dusu saalo bɛna kɛ fanga sɔrɔyɔrɔba ye o waati kɔnɔ. I hakili to a la ko gɛlɛya bɛɛ la, jigiya bɛ yen.

` Hunter Syndrome, Hunter Syndrome, MPS II, Bana minnu bɛ sɔrɔ jamu fɛ, Enzymes, Denmisɛnw ka banaw, Taamaʃyɛnw, Furakɛli