Yala nin bana kabakoma in bɛ i denmisɛnnin na wa? - An ka kunnafoni sɔrɔ Lesch-Nyhan Syndrome kan

Yala i denmisɛnnin bɛ a yɛrɛ tɔɔrɔ wa? Yala i delila k’a ye k’a dawolo kin, k’a bolokɔnincininw kin, walima k’a kunkolo gosi yɔrɔ dɔ la wa? Ni o kɛra, a bɛnnen don i ma, i n’a fɔ ba walima fa, ka siran kosɛbɛ ani ka hami. Bi an bɛna kuma nin bana juguman sugu dɔ kan, nka a man teli kosɛbɛ, n’o bɛ wele ko Lesch-Nyhan Syndrome. N jigi b’a kan ko nin kalanni kɔfɛ, aw bɛna faamuyali jɛlen sɔrɔ nin ko in kan.

Lesch-Nyhan ka bana ye mun ye? An k’a faamu cogo nɔgɔman na!

N’an y’a fɔ cogo nɔgɔman na, bana min bɛ wele ko Lesch-Nyhan Syndrome (LNS) o ye bana ye min man ca kosɛbɛ, a bɛ sɔrɔ bange waati . A bɛ nɔ bila den kunkolo ni a ka kɛwalew la kosɛbɛ. I n’a fɔ an y’a fɔ cogo min na ka tɛmɛ, bana in taamasiɲɛ kunbabaw ni a jugumanba dɔ ye den ka yɛrɛdɔnbaliya ye min tɛ a yɛrɛ minɛ. O kɔrɔ ye fɛnw ye i n’a fɔ u dawolo kinni, u bolokɔninw kinni, walima u kunkolo gosi fɛnw na i n’a fɔ kogo. Miiri k’a filɛ denmisɛn fitinin dɔ ka kan ka dimi cogo min na n’u y’o kɛ.

Nin bana in bɛ kɛ sababu ye ka asidi uriki hakɛ caya, o ye fɛnɲɛnamafagalan ye min bɛ sɔrɔ an farikolo la. Ɲininikɛlaw bɛ sigasiga ko LNS fana bɛ nɔ bila kemikɛli ciden dopamine hakɛ la, o min nafa ka bon hakili baara kɛnɛman na.

Nin bana in bɛ denmisɛn minnu na, n’o ye LNS ye, olu bɛ se ka jolidɛsɛ jugumanba dɔ sɔrɔ min bɛ dimi, n’o bɛ wele ko gout . Distoniya ni hakiliɲagami bɛ se ka kɛ u la fana.

A fɔ man di nka fura tɛ Lesch-Nyhan ka bana in na. Prognosis (banakisɛ) ɲɛfɔli man ɲi. Nka, ni furakɛli bɛnnen kɛra, aw den ka bana taamasiɲɛw bɛ se ka kunbɛn, gɛlɛyaw bɛ se ka dɔgɔya, ani a ka ɲɛnamaya kɛcogo bɛ se ka ɲɛ fo ka se hakɛ dɔ ma.

Jɔn de bɛ Lesch-Nyhan ka bana sɔrɔ?

Lesch-Nyhan ka bana ye farikoloɲɛnajɛ bana ye min bɛ sɔrɔ ciyɛn fɛ. A ka c’a la, a bɛ bɔ ba la ka taa denkɛ la. A ka dɔgɔ kosɛbɛ npogotigininw na.

Nka tuma dɔw la, hali ni denbaya kɔnɔ mɔgɔ si ma nin jamu bana in sɔrɔ fɔlɔ, nin `LNS` cogoya in fana bɛ se ka kɛ ka da `(mutation)` caman cili barika kan jamu kɛrɛnkɛrɛnnen dɔ la `(HPRT1 jamu)` la, k'a sɔrɔ den bɛ ka bonya kɔnɔbara la. `Jɛnkulu sɛgɛsɛgɛli` bɛ se k’a dɔn ni nin jamu sɛgɛsɛgɛli in kɛra mɔgɔ la ciyɛn ye walima ni a kɛra kura ye.

Yala bana wɛrɛw bɛ yen minnu bɛ i n’a fɔ Lesch-Nyhan ka bana (LHS) wa?

Ɔwɔ, tiɲɛ na, bana damadɔ wɛrɛw bɛ yen minnu bɛ `LNS` taamasiɲɛw bɔ ɲɔgɔn na. Misali la, `autisme spectre disorder` ani `cerebral palsy` fila bɛɛ taamasiɲɛw bɛ tali kɛ `LNS` la.O la, a nafa ka bon kosɛbɛ ka bana sɛgɛsɛgɛcogo ɲuman sɔrɔ walasa den ka se ka furakɛli ɲuman sɔrɔ.

Nin ye cogoya wɛrɛw ye minnu ni `LNS` bɛ tali kɛ ɲɔgɔn na:

• Cornelia de Lange syndrome - Nin fana ye yiriwali bana ye.
• Denbaya ka disautonomie (banakisɛfagalanw) (dysautonomie).
• Syndrome X fragile (X) min bɛ wele ko fragile.
• Glucose 6-phosphate dehydrogenase (G6PD) dɛsɛ - Nin ye jamu bana ye min bɛ joli kuru bilenmanw de minɛ.
• `Nɛgɛtigɛbana min bɛ sɔrɔ cɛya la`.
• Huntington ka bana.
• Fosforibosili pirofosifati (PRPP) sintetazi ka caya kojugu - O fana bɛ na ni asidi uriki bɔli ye ka tɛmɛ.
• `Syndrome de Rett`.
• `Syndrome de Tourette`.

Yala Lesch-Nyhan ka bana suguya wɛrɛw bɛ yen (LHS) wa?

Bana in suguya min ka teli ka kɛ, n’o bɛ wele ko Classic Lesch-Nyhan syndrome (LNS), o ka jugu kosɛbɛ . A bɛ gɛlɛyaw lase farikolo, hakili ani kɛwalew ma. Nka, bana in suguya wɛrɛw bɛ yen, minnu ka nɔgɔn . Nin suguya ninnu bɛ denmisɛn minnu na, olu taamasiɲɛw man ca. U fana ka teli ka kojugu kɛ u yɛrɛ la ani ka lamaga-lamagali banaw sɔrɔ.

O suguya nɔgɔlen suguw ye:

• `HPRT1 ni farikoloɲɛnajɛ baarakɛcogo (HND)`.
• `HPRT1-related hyperuricemie (Kelley–Seegmiller syndrome)` (HPRT1-related hyperuricemie - Kelley–Seegmiller syndrome) - Nin ye suguya ye min ka nɔgɔn.

Tɔgɔ jumɛn wɛrɛw bɛ Lesch-Nyhan syndrome (LHS) la?

Nin bana in bɛ Dɔn tɔgɔ damadɔ wɛrɛw fana fɛ. U ye:

• `Koreoathétose yɛrɛ-yɛrɛ-yɛrɛ-yɛrɛ-bana`
• `Hypoxanthine-guanine phosphoribosyltransferase dɛsɛ dafalen`
• `Gout juvenile`
• `Denmisɛnw ka hyperuricemie syndrome`
• `Kelley-Seegmiller ka bana`
• `Lesch Nyhan ka bana (LND)`
• `Sindrome primaire hyperuricemie`
• `HPRT dɛsɛ bɛɛ lajɛlen`
• `X-lilen hyperuricemie`

Lesch-Nyhan ka bana (LHS) ka teli ka kɛ cogo di?

Lesch-Nyhan ka bana ye bana ye min man teli ka sɔrɔ . a bɛ mɔgɔ kelen ɲɔgɔn minɛ mɔgɔ 380.000 o 380.000 la . A ka ca cɛdenw fana na. O bana in dɔnna fɔlɔ san 1964.

Mun de bɛ Lesch-Nyhan Syndrome (LHS) bila mɔgɔ la?

O sababuba yeYɛlɛma, walima fɛn dɔ jiginni, jɛnɛya kɛrɛnkɛrɛnnen dɔ la min bɛ wele ko `HPRT1 jamu`. Nin `HPRT1` jamu in bɛ anzimu nafamaba dɔ Bɔ min bɛ Weele ko `HPRT`. Enzyme ye farikolojɔlan suguya dɔ ye min bɛ kemikaliya walew (metabolisme) teliya an farikolo la ani ka farikolo dɛmɛ ka baara kɛ.

Miiri k`a filɛ min bɛ kɛ ni nin `HPRT` anzimu in ma baara kɛ ka ɲɛ. Lesch-Nyhan ka bana na, farikolo tɛ se ka furaw kɛ ka ɲɛ minnu bɛ wele ko `purines` . Ni o purini ninnu ma kɛ ka ɲɛ, u bɛ wuli ka kɛ `asidi uriki` ye. Nin ye fɛnɲɛnamafagalan ye min bɛ an joli la.

A ka ca a la, o `asidi uriki` fanba bɛ tɛmɛ sugunɛ fɛ ka bɔ sugunɛ na. Nka, Lesch-Nyhan ka bana na, `asidi uriki` (asidi uriki) bɛ dalajɛ farikolo la ka tɛmɛ (hyperuricemia) .

O asidi uriki tɛmɛnen bɛ bila fari, bolow ani senw na i n’a fɔ kaba misɛnniw, walima urate kirisita. O kristalɛw bɛ se ka kolotugudaw tiɲɛ ani ka bana dɔ lase mɔgɔ ma min bɛ wele ko gosi.

Ani fana, o kabakuru misɛnniw bɛ se ka kɛ sugunɛ walima sugunɛbara la, ka sugunɛ bali ani ka dimi bila mɔgɔ la. Ni bana juguman dɔw don, sugunɛ fila bɛɛ bɛ se ka baara dabila (sugunɛbilenni).

Lesch-Nyhan Syndrome (LHS) taamasiɲɛw ye jumɛnw ye?

Lesch-Nyhan ka bana bɛ denmisɛn minnu na, olu taamasiɲɛw bɛ nɔ bila u hakili seko la, u lamagacogo ani u ka kɛwalew la . Farikoloɲɛnajɛ fanga dɔgɔyali ani yiriwali kɔtigɛbaliya ye bana in taamasiɲɛ fɔlɔw dɔ ye.

Den dɔw bɛ se ka kɛ ni kirisita oranjɛ ye u ka dawolo la ni asidi uriki cayara u fari la. Nka, den fanba minnu bɛ nin bana in na, olu tɛ taamasiɲɛ jɛlen si jira fo n’u si bɛ kalo 4 ɲɔgɔn bɔ.

A taamasiɲɛ caman bɛ yen bangebagaw ni dɔgɔtɔrɔw bɛ se ka minnu ye. An k’u lajɛ kelen kelen:

Ka kojugu kɛ i yɛrɛ la ani mɔgɔ wɛrɛw la

Yɛrɛjogin min bɛ mɔgɔ wajibiya, o ye Lesch-Nyhan ka bana taamasiɲɛ ye, o ye bana ye min bɛ sɔrɔ den ɲinw bɔli daminɛ kɔfɛ. A ka c’a la, o kɛcogo in bɛ kɛ ni ninnu ye:

• Ka i kunkolo walima i farikolo yɔrɔw gosi yɔrɔ dɔ la.
• Dawolo, bolokɔnincininw ani ɲɛdawolo kinni.
• Ɲɛw kɔnɔ sɔgɔsɔgɔninjɛ.

Tuma dɔw la, nin bana in bɛ denmisɛn minnu na, olu b’a ɲini ka kojugu kɛ mɔgɔ wɛrɛw la. U bɛ se ka mɔgɔ wɛrɛw tɔɔrɔ ni kuma ye, ka u minɛ, ka u gosi, ka u kin, walima ka u daji tu u la . N’a sɔrɔ a ka kan ka kɛ dusukasiko ye ani ko dɛmɛnbali don ba walima fa ka nin ye, tiɲɛ tɛ?

Farikolo ni lamaga gɛlɛyaw

Taamasiɲɛ wɛrɛ minnu ka teli ka ye, olu ye farikolo fanga gɛlɛyaw ye. Olu dɔw ye:

• Ballismus ye bolow walima senw lamagacogo segin-segin ye cogo kelen na.
• A ka gɛlɛn ka wuluwulu, ka taama, walima ka dumuni kɛ ni i bolow ye.
• Munumunu gɛlɛya (dysphagie).
• Ɲɛgɛnɛsiraw (hyperreflexie).
• Kɔnɔbara biri ka a sababu kɛ farikolo-ɲɛnajɛ ye `(opisthotonos)`.
• Lamaga-lamagali min tɛ a yɛrɛ sago ye (distonie) walima ɲɛda cogoya caman yeli.
• Yɛrɛyɛrɛli, wulicogo ani kurukuruni lamagacogo min tɛ a yɛrɛ sago ye (choreoathétose).
• Lamaga-lamagali barikamaw (chorea).
• Lamaga-lamagali dɔgɔyali ka a sababu kɛ farikolo gɛlɛyali walima a gɛlɛyali ye (spasticité).
• Daɲɛw fɔli walima kuma dɔɔni dɔɔni (dysarthrie).

Kɛnɛyako gɛlɛyaw

Lesch-Nyhan ka bana bɛ denmisɛn minnu na, olu bɛ se ka kɛnɛya gɛlɛya dɔw sɔrɔ ka a sababu kɛ `asidi uriki` dalajɛli ye farikolo la. Olu dɔw ye:

• Sugunɛbilenni kabakurunw.
• Sugunɛbilenni.
• Sugunɛbilenni.
• Gout (gout) (gout).
• Jolidɛsɛ megaloblasitiki min bɛ sɔrɔ witamini B12 dɛsɛ fɛ.
• Fɔɔnɔ ka teli ka kɛ.

Kalan gɛlɛyaw

Denmisɛnw fana bɛ se ka gɛlɛyaw sɔrɔ i n’a fɔ:

• Kalanbaliya minnu bɛ sɔrɔ.
• Hakilila gɛlɛyaw i n’a fɔ hakilijagabɔbaliya walima hakilijagabɔ dɔgɔyali.
• Gɛlɛya ka fɛn gɛlɛnw boloda.

Lesch-Nyhan Syndrome (LHS) bɛ sɔrɔ cogo di?

Aw bɛ se ka bana taamasiɲɛw kɔlɔsi aw den na. Walima, dɔgɔtɔrɔ bɛ se ka kɛwalew kɔlɔsi minnu tɛ deli ka kɛ sɛgɛsɛgɛli kɛcogo kɔrɔ dɔ senfɛ. kɛnɛyabaarakɛlaw bɛ Lesch-Nyhan ka bana sɛgɛsɛgɛ ni farikolo sɛgɛsɛgɛli ye .

U bɛna ɲininkali kɛ fana aw den ka bana taamasiɲɛw ni a ka denbaya ka furakɛli tariku la. U bɛna taamasiɲɛw fana ɲini i n’a fɔ:

• Yiriwali latɛmɛni.
• Joli walima sugunɛ sɛgɛsɛgɛli bɛna a dɔn ni aw ka asidi uriki hakɛ cayara.
• Yɛrɛ tiɲɛni kɛwalew.

Sɛgɛsɛgɛli wɛrɛ jumɛnw bɛ dɛmɛ don bana sɛgɛsɛgɛli la?

Dɔgɔtɔrɔ bɛ se ka joli sɛgɛsɛgɛli ni jamu sɛgɛsɛgɛli fɔ walasa ka bana sɛgɛsɛgɛli dafa ani ka bana wɛrɛw bɔ kɛnɛ kan. Jɛnkulu sɛgɛsɛgɛli bɛ kɛ ni joli fitinin dɔ ta ye. Jɛnkulu sɛgɛsɛgɛli kɔfɛ, jamu ladilikɛla dɔ bɛna kuma aw fɛ a sɔrɔcogo kan.

Ni Lesch-Nyhan ka bana bɛ aw ka denbaya kɔnɔ, ni aw kɔnɔma don, aw bɛ kuma aw ka dɔgɔtɔrɔ fɛ o ko la. Dɔgɔtɔrɔ bɛ se ka a fɔ aw ye ko aw ka kan ka sɛgɛsɛgɛli kɛ sani den ka bange, kɛrɛnkɛrɛnnenya la ni aw b’a dɔn ko den ye cɛden ye. Nin sɛgɛsɛgɛli in min bɛ kɛ ka kɔn jiginni ɲɛ, o bɛ se ka kɛ ninnu ye:

• Amniocentesis (banakisɛfagalan).
• Villus chorionic (banakisɛfagalan) tacogo.

Yala fura bɛ yen min bɛ wele ko Lesch-Nyhan Syndrome (LHS) wa?

A fɔ man di nka fura tɛ Lesch-Nyhan ka bana in na, wa furakɛli suguyaw dan ye. Nka, kɛnɛyabaarakɛlaw bɛ se ka aw ni aw den dɛmɛ ka bana taamasiɲɛw kunbɛn ani ka ɲɛnamaya kɛcogo ɲuman sɔrɔ.

Jɔn bɛna kɛ ne den ka Lesch-Nyhan Syndrome (LHS) furakɛli jɛkulu kɔnɔ?

Ni Lesch-Nyhan ka bana bɛ aw den na, a ka ca a la, dɔgɔtɔrɔ kɛrɛnkɛrɛnnenw ni kɛnɛyabaarakɛlaw ka jɛkulu dɔ bɛna a taamasiɲɛw bɛɛ lajɛlen ɲɛfɔ. Nin ekipu in bɛ se ka kɛ ninnu ye:

• Jɛnkulu dɔnbaga dɔ.
• Sugunɛ kɛrɛnkɛrɛnnen dɔ (sɔgɔsɔgɔninjɛ furakɛla).
• Hakilila-dɔgɔtɔrɔ dɔ.
• Baarakɛlaw ka furakɛlikɛla dɔ.
• Denmisɛnw ka dɔgɔtɔrɔ dɔ.
• Farikoloɲɛnajɛla dɔ.
• Sosiyete ka baarakɛla dɔ.
• Kuma ni kanko banaw dɔnbaga dɔ.
• Dɔgɔtɔrɔ min ka baara ɲɛsinnen bɛ sugunɛbaralabana ma (urologist).

Lesch-Nyhan Syndrome (LHS) bɛ furakɛ cogo di?

Lesch-Nyhan ka bana furakɛli bɛ bɔ den ka bana taamasiɲɛw ni u juguya la.

den kuraw ni denmisɛnni fitiniw bɛ se ka mago ɲɛ kɔlɔsili ni dɛmɛ wɛrɛ la balo dicogo la .

Aw ka kɛnɛyabaarakɛla bɛ se ka fɛnw fɔ aw ye i n’a fɔ:

• Fura minnu bɛ kɛ ka asidi uriki hakɛ caman kunbɛn walima ka kɛwale gɛlɛyaw lajɔ.
• Dɛmɛ don baloli la walima dumuni munumunu la.
• Dɛmɛminɛnw, i n’a fɔ wotoronin, walasa ka lamaga nɔgɔya.
• Farikoloɲɛnajɛ furakɛli ni baarakɛcogo furakɛli.
• Lakanalifɛnw i n’a fɔ sɔgɔsɔgɔninjɛ walima dawolocilan walasa ka lamaga-lamagaliw bali i n’a fɔ bolokɔniw kinni.
• Taabolo minnu bɛ kɛ i n’a fɔ shockwave lithotripsy walima laser lithotripsy walasa ka sugunɛ walima sugunɛbaralabana kari.

Yala ne bɛ se ka dɔ bɔ ne den ka Lesch-Nyhan Syndrome (LHS) sɔrɔli la wa?

Tiɲɛ na, fɛɛrɛ si tɛ yen min bɛ se ka Lesch-Nyhan ka bana kunbɛn . A bɛ sɔrɔ jamu caman cili fɛ (mutations) minnu bɛ kɛ ka den to ka bonya denso kɔnɔ. Aw bɛ fɛn o fɛn kɛ, o tɛ se ka nin bana in bila mɔgɔ la. I hakili to o la. Tuma dɔw la, sɛgɛsɛgɛli bɛ se ka kɛ sani jiginni ka kɛ walasa ka jamu jiginni dɔn.

Den min bɛ ni Lesch-Nyhan syndrome (LHS) ye, o ka ɲɛtaa ye mun ye?

Lesch-Nyhan ka bana bɛ denmisɛn minnu na , olu ka ɲɛnamaya kɛcogo man ɲi . A ka c’a la, u tɛ se ka taama, wa u mago bɛ wotoronin na. caman ka ɲɛnamaya waati ka surun . Bana in gɛlɛyaw kosɔn, a man teli mɔgɔw ka ɲɛnamaya kɛ ka tɛmɛ san 20 kan. Nka, furakɛli jɛkulu dɔ bɛ se ka aw ni aw den dɛmɛ ka bana taamasiɲɛw kunbɛn ani ka aw den dɛmɛ a ka to a yɛrɛ lafiyalen na ani ka baara kɛ ni a seko ye.

Tuma jumɛn na ne ka kan ka dɔgɔtɔrɔ ka ladilikan ɲini ne den ye?

A nafa ka bon ka Lesch-Nyhan ka bana dɔn joona . Kɛnɛyabaarakɛlaw bɛ se ka dɛmɛ don aw ni aw den na tuma bɛɛ ani ka bana taamasiɲɛw lafiya. Aw ka dɔgɔtɔrɔ bɛna baara kɛ ni aw ye walasa ka furakɛli bolodacogo dɔ labɛn ka kɛɲɛ ni aw den magow ye minnu bɛ ɲɔgɔn Changer.A bɛ ladonni bolodacogo dɔ labɛn min bɛ kɛ ka kɛɲɛ ni mɔgɔ yɛrɛ ta ye.

Bangebagaw caman bɛ kabakoya kosɛbɛ ani ka dɛmɛnbaliya sɔrɔ u kɛlen kɔ ka Lesch-Nyhan ka bana sɔrɔ. A faamuyalen don ko nin ye bana ye min man teli ka sɔrɔ jamu fɛ, fura tɛ min na. Nka, a dɔnni joona ani a furakɛli bɛ se ka den ka ɲɛnamaya kɛcogo ɲɛ kosɛbɛ. Aw bɛ kuma aw ka dɔgɔtɔrɔ fɛ furakɛli nafamaw kan minnu bɛ se ka fɛn caman kɛ ni aw den bɛ ka bonya.

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

O bɛ ɲɛ, o la, an ye kuma min fɔ, n jigi b’a kan ko aw ye hakilina dɔw sɔrɔ Lesch-Nyhan Syndrome kan. Nin ye bana ye min man ca kosɛbɛ, wa a ka gɛlɛn kosɛbɛ denmisɛnnin ni denbaya ma.

• Nin ye bana ye min bɛ sɔrɔ jamu fɛ: a ka ca a la a bɛ bɔ ba la ka taa denkɛ la, walima a bɛ se ka sɔrɔ jamu caman cili kura fɛ.
• A taamasiɲɛ kunba ye yɛrɛdɔnbaliya ye: a bɛ farikolo gɛlɛyaw fana lase mɔgɔ ma, bana dɔw i n’a fɔ gosi, ani kalanbaliya.
• Fura tɛ yen, nka a taamasiɲɛw bɛ se ka kunbɛn: ni furakɛli suguya caman kɛra ani ni dɔgɔtɔrɔ kɛrɛnkɛrɛnnen dɔ ka dɛmɛ ye, an bɛ se k’a ɲini ka den ka ɲɛnamaya kɛ cogo la min ka di.
• Sɛgɛsɛgɛli joona nafa ka bon kosɛbɛ: Ni aw ye bana taamasiɲɛw ye, aw bɛ dɔgɔtɔrɔ ka laadilikan ɲini joona.
• I kelen tɛ: A bɛ se ka gɛlɛya ka to i hakili la ko nin cogo in na. Nka, i ka dɛmɛ ɲini dɔgɔtɔrɔw, ladilikɛlaw ani i diyanyemɔgɔw fɛ.

N jigi b’a kan ko nin kunnafoni in bɛna aw dɛmɛ. Ni nin taamasiɲɛ ninnu dɔ bɛ aw den na, aw bɛ taa dɔgɔtɔrɔso la joona joona.

` Lesch-Nyhan Syndrome, LNS, HPRT1 jamu, asidi uriki, gosi, yɛrɛjogin, jamu bana, denmisɛnw ka banaw, jamu banaw, asidi uriki