Ese umwana wawe afite ibi bimenyetso? Reka twige ku ndwara ya Sanfilippo Syndrome

Ese hari impinduka ubona mu myitwarire y'umwana wawe, mu mivugire ye, cyangwa mu miterere ye, ibyo ukabona bigoye kumva? Hari igihe tutazi byinshi ku ndwara zimwe na zimwe zifata abana bato, bityo tugatangira gutekereza ku kintu kimwe ku kindi. Uyu munsi, tugiye kuvuga ku ndwara igoye gato, ariko buri wese agomba kumenya. Iyi yitwa Sanfilippo syndrome . Ntugahangayike, tuzayivugaho mu buryo burambuye kandi bworoshye.

Indwara ya Sanfilippo ni iki?

Mu magambo make, Sanfilippo syndrome ni indwara iterwa n'uturemangingo tw'umubiri (genetic syndrome) ivukanwa . Mu by'ukuri ni itsinda ry'indwara. Ifata cyane cyane uturemangingo tw'imitsi two mu mutwe w'umwana wawe, ari two ubwonko n'umugongo. Ibi bishobora gutera ibimenyetso bitandukanye mu mitekerereze y'umwana, imyitwarire ye, n'imiterere ye. Ikibabaje ni uko ibi bimenyetso birushaho kwiyongera uko igihe kigenda gihita, kandi iyi ndwara ishobora kugabanya igihe cyo kubaho cy'abana.

Irindi zina ry'ibi ni mucopolysaccharidose type III (MPS III) .

Tekereza nawe, mu turemangingo twacu hari "ahantu ho guta imyanda." Ibi byitwa lysosomes . Ibi ni byo bisesagura kandi bigakuraho ibintu bidakenewe, cyangwa "imyanda," byiyongera mu turemangingo. Umwana urwaye Sanfilippo syndrome nta enzymes enye zikenewe kugira ngo asenye karubohidrati ikomeye yitwa heparan sulfate ( izwi kandi nka glycosaminoglycan ). Kubera ko iyi enzyme idakora neza, ikintu cyitwa heparan sulfate cyiyongera mu turemangingo tw'umwana, mu ngingo ze no mu ngingo ze. Uku kwiyongera kwabyo bitera kwangirika. Ibi ni byo twita lysosomal storage disorder .

Ese hari ubwoko bwa Sanfilippo Syndrome?

Yego, hari ubwoko bune bw'ingenzi bw'ibi. Buri bwoko buterwa no kubura kwa enzyme itandukanye.

• Ubwoko bwa A: Kubura kwa enzyme ya sulfamidase.
• Ubwoko bwa B: Kubura kwa enzyme alpha-N-acetylglucosaminidase.
• Ubwoko bwa C: Ibura rya enzyme ya heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase.
• Ubwoko bwa D: Kubura kwa enzyme N-acetylglucosamine 6-sulfatase.

Muri izi, ubwoko bwa A ni bwo bwoko bukunze kugaragara cyane ku isi , mu gihe ubwoko bwa D ari bwo budakunze kugaragara cyane.

Iyi ndwara ikunze kugaragara gute?

Indwara ya Sanfilippo ni indwara ikunze kugaragara cyane.. Dukurikije abashakashatsi, ibi bigira ingaruka ku muntu umwe kuri 50.000 kugeza kuri 250.000. Bityo rero urabona ukuntu ibi bidakunze kubaho.

Ni ibihe bimenyetso by'indwara ya Sanfilippo?

Ibimenyetso n'uburemere bw'iyi ndwara bishobora gutandukana bitewe n'umwana, ndetse bitewe n'ubwoko bw'indwara. Bimwe mu bimenyetso bya mbere bishobora kugaragara ku bana bavutse n'abana bato birimo:

• Imiterere mibi yo mu maso .
• Ingohe zisobanutse kandi zagutse.
• Kugira ubwoya bwinshi ku mubiri (hirsutism) ntibigabanuka uko igihe kigenda gihita.
• Umutwe munini kuruta ibisanzwe (macrocephaly).
• Indwara zo gusinzira, kugorwa no gusinzira.
• Ingorane zo guhumeka, urugero, kuziba kw'amatwi n'izuru, kugorwa no guhumeka.
• Kubabara cyane mu gifu no kurira (ibihe nk'ibicurane).
• Guhora urwaye impiswi kenshi.

Ushobora kutabona ibi bimenyetso bya mbere ako kanya. Uko umwana wawe agenda akura, ibindi bimenyetso bijyanye na Sanfilippo syndrome bizatangira kugaragara. Ibi bimenyetso akenshi bigaragara hagati y'imyaka 1 na 4 .

Ibiranga uburyo bwo kumva no kumva imyakura n'imyitwarire:

• Gutinda mu kuvuga no mu bumenyi bw'ururimi (akenshi ni ikimenyetso cya mbere).
• Imikurire y'umwana iratinda nta mpamvu yihariye (ubukererwe butari bwihariye).
• Ubushobozi bw'ubwenge buragabanuka uko igihe kigenda gihita.
• Imyitwarire y'ubugizi bwa nabi cyangwa isenya .
• Gukora cyane.
• Imyitwarire idahwitse, uburakari butunguranye (umujinya ukabije).
• Kudatinya ibintu biteje akaga.
• Kuruma kenshi, gushwanyagurika, konka, cyangwa kumira (hyperoralality).
• Kutagira ituze.
• Ibibazo byo gusinzira - gutinya gusinzira, parasomnias, apnea yo mu gihe cyo gusinzira.
• Impinduka mu miterere y'amaguru, urugero, kugenda ku mano .
• Umubiri ukomeretse, gucika intege.
• Indwara zo mu mutwe.

Ibimenyetso by'amatwi, amazuru n'umuhogo:

• Kubura amatwi.
• Indwara zo mu matwi zikunze kugaragara (otitis).
• Kuziba izuru mu mazuru igihe kirekire.
• Gukenera gukurwaho adenoids na tonsils (adenotonsillectomy) mbere y'abana basanzwe.

Ibindi bimenyetso:

• Impiswi cyangwa impatwe igihe kirekire.
• Kwihagarika impatwe.
• Kubabara mu nda.
• Ubudahangarwa bw'imitsi y'umutima (arrhythmia).
• Indwara z'imitsi y'umutima (cardiomyopathy).
• Gukomera kw'ingingo.
• Indwara ya Scoliose.

Ni iki gitera indwara ya Sanfilippo Syndrome?

Nkuko twabivuze mbere, Sanfilippo syndrome ni indwara yo kubika ibintu mu buryo bwa Lysosomal (LSD).Ni indwara y’uturemangingo iri mu itsinda ryitwa. Abantu bafite iyi ndwara birundanya ibintu byangiza mu turemangingo tw’umubiri wabo. Impamvu ni uko zimwe mu misemburo mu mubiri wabo zidakora neza cyangwa zikaba zibura . Iyo izi misemburo zibuze, umubiri wacu ntushobora gusenyuka no gukuraho ibintu bimwe na bimwe. Iyo zirundanyije mu mubiri ni bwo ziba mbi.

Muri Sanfilippo syndrome, imwe muri enzymes enye zifasha mu gusenya ikintu cyitwa heparan sulfate irabura. Heparan sulfate irakomeza kwirundanya mu turemangingo ikatwangiza. Uku kwirundanya ahanini bigira ingaruka ku turemangingo tw’ubwonko bw’umwana .

Uku kubura kwa enzyme guterwa n'impinduka mu ngirabuzimafatizo , cyane cyane impinduka mu ngirabuzimafatizo nka gene ya SGSH .

Izi mpinduka mu ngirabuzimafatizo umwana aragwa n'ababyeyi bombi. Ibi byitwa uburyo bwo kuragwa kw'ingirabuzimafatizo bwa autosomal recessive . Ibi bivuze ko ababyeyi bombi bagomba kuba ari bo batwara ngirabuzimafatizo yahinduwe. Ariko, umuntu utwara iyi ngirabuzimafatizo ubusanzwe ntagaragaza ibimenyetso.

Ni gute wasuzuma iyi ndwara neza?

Kubera ko indwara ya Sanfilippo idakunze kugaragara kandi ibimenyetso byayo bisa n'iby'izindi ndwara zisanzwe , akenshi indwara ishobora gutinda. Abaganga bashobora kuyisuzuma nabi nk'indwara yo gutinda gukura, indwara yo kudahangarwa neza/kubura imbaraga nyinshi (ADHD) , cyangwa autism .

Muganga w'umwana wawe azagukorera isuzuma ry'umubiri n'isuzuma ry'imitsi. Azakubaza kandi ibimenyetso by'umwana wawe n'amateka ye y'ubuzima. Bashobora kandi gutumiza ibizamini kugira ngo barebe ko hari izindi ndwara.

Ibizamini bifasha kwemeza ko umuntu yanduye Sanfilippo syndrome ni ibi bikurikira:

• Ikizamini cy'inkari za GAG: Icyitegererezo cy'inkari z'umwana gisuzumwa niba hari ikintu cyitwa glycosaminoglycans (GAG) .
• Isesengura rya enzyme: Imikorere ya enzymes zijyanye nayo ipimwa mu maraso.
• Gupima imiterere y'uturemangingo: Iki kizamini gishobora gusuzuma impinduka mu miterere y'uturemangingo (mutations) zizwiho kuba zifitanye isano na Sanfilippo syndrome.

Byongeye kandi, muganga ashobora gutanga inama ku bindi bipimo kugira ngo arebe niba hari icyangiritse ku ngingo cyangwa ingingo z'umwana. Urugero:

• Isuzuma rya MRI mu bwonko.
• Isuzuma ry'amaso.
• Ikizamini cyo kumva.
• Ibipimo by'umutima - nka echocardiogram na electrocardiogram (EKG) .
• Inyigo yo gusinzira.
• Isuzuma rya X-ray.

Gusuzuma igihe cy'ivuka

Niba hari umuntu wo mu muryango wawe warwaye indwara ya Sanfilippo, muganga wawe ashobora kukugira inama yo gupima umwana wawe ukiri mu nda kugira ngo arebe niba afite ikibazo mu gihe atwite. Ibi bishobora gukorwa binyuze mu bipimo nka amniocentesis cyangwa chorionic villus sampling .

Ni ubuhe buryo bwo kuvura indwara ya Sanfilippo Syndrome?

Ikibabaje ni uko ubu nta muti cyangwa uburyo bwo kuvura indwara bwa Sanfilippo syndrome buhari . Ubuvuzi bwibanda cyane cyane ku kuvura ibimenyetso no kwita ku ndwara zigabanya ububabare . Kubera ko iyi ndwara igira ingaruka ku buzima bw'umwana, hakenewe itsinda ry'abaganga b'ingeri zitandukanye kugira ngo bavure uwo mwana. Iri tsinda rishobora kuba rigizwe na:

• Abaganga b'abana.
• Abaganga b'indwara z'imitsi mu bana.
• Abavuzi b'umubiri.
• Abavuzi b'inzobere mu by'ubuvuzi bw'akazi.
• Abahanga mu by'indwara z'ururimi.
• Abaganga b'amaso (inzobere mu matwi, amazuru, n'umuhogo).
• Inzobere mu by'imitekerereze y'abana.
• Abakozi bashinzwe imibereho myiza y'abaturage.
• Abarezi bihariye.

Izi mpuguke zitanga inama ku miti, uburyo bwo kuvura, n'ibikoresho by'ubufasha byagenewe umwana. Intego nyamukuru zo kuvura ni ugukomeza imyitozo ngororamubiri y'umwana, kongera ubushobozi bwe, no gukomeza ubuzima bwiza bushoboka.

Umwana wawe ashobora kandi kugira amahirwe yo kwitabira igerageza ry'ubuvuzi . Baza itsinda ry'abaganga b'umwana wawe ibi. Abashakashatsi ubu barimo kwiga uburyo bwihariye bwo kuvura indwara ya Sanfilippo. Urugero:

• Uburyo bwo kuvura usimbuzwa enzymes.
• Gutera uturemangingo tw'inyuma.
• Kuvura imiterere y'uturemangingo.

Mu ntambwe za nyuma z'indwara, icy'ingenzi mu kuvura ni ukubungabunga ubuzima bwiza no gukumira ingorane.

Ni iki nakwitega mu gihe umwana wanjye afite Sanfilippo Syndrome?

Niba umwana wawe afite indwara ya Sanfilippo syndrome, ushobora kujya kwa muganga kenshi no gupimwa. Bishobora kugorana gusobanukirwa iyi ndwara ikomeye icyarimwe. Ariko ibuka ko itsinda ry’abaganga b’umwana wawe riri kumwe nawe mu ntambwe zose. Kubera ko indwara ya Sanfilippo igira ingaruka ku mwana mu buryo butandukanye, itsinda ry’abaganga b’umwana wawe rishobora kukugira inama nziza ku hazaza h’umwana wawe n’umuryango wawe.

Mu cyiciro cya nyuma cya Sanfilippo syndrome, umwana wawe ashobora guhura n'ibi bikurikira:

• Kugabanuka k'imikoranire n'ibibakikije.
• Dementia . (Kurwara indwara yo kwibagirwa).
• Kubura imikorere y'umubiri nko kugenda, kuvuga no kurya.

Ibi bibazo by'ubuzima birushaho kwiyongera uko igihe kigenda gihita kandi bishobora no gutera urupfu. Indwara zo mu myanya y'ubuhumekero, cyane cyane umusonga , ni zo zikunze gutera urupfu.

Imyaka yo kubaho k'umuntu urwaye Sanfilippo Syndrome ni iyihe?

Mu bushakashatsi bwakorewe ku barwayi 113 barwaye indwara ya Sanfilippo, impuzandengo y'igihe cyo kubaho yari:

• Ubwoko bwa A: Hagati y'imyaka 11 na 19.
• Ubwoko bwa B: Hagati y'imyaka 12 na 16.
• Ubwoko C: Hagati y'imyaka 14 na 32.

Ubwoko bwa D ni gake cyane, bityo nta makuru ahagije kuri bwo.

Ariko, ikiruta byose, buri mwana wese ufite indwara ya Sanfilippo aratandukanye . Itsinda ry'abaganga b'umwana wawe ni ryo rizaba umuntu mwiza wo kuguha igitekerezo cyiza cy'uko iyo ndwara izagira ingaruka ku buzima bw'umwana wawe.

Ese indwara ya Sanfilippo Syndrome ishobora kwirindwa?

Kubera ko indwara ya Sanfilippo ari indwara iterwa n'uturemangingo, nta kintu na kimwe wakora kugira ngo uyirinde .

Mbere yo kubyara umwana, niba ufite impungenge ku bijyanye n'ibyago byo kwanduza umwana wawe indwara ya Sanfilippo syndrome cyangwa izindi ndwara zikomoka ku ngirabuzimafatizo, ni byiza kuvugana na muganga akaguha inama ku ngirabuzimafatizo .

Niba umwana wanjye afite Sanfilippo Syndrome, nkwiye kumwitaho nte?

Niba umwana wawe afite indwara ya Sanfilippo syndrome, ni ngombwa cyane kumenya neza ko abona ubuvuzi bwiza bushoboka . Mu kunganira umwana wawe, ushobora gufasha kwemeza ko afite ubuzima bwiza bushoboka.

Wowe n'umuryango wawe mushobora kandi kwinjira mu itsinda ry'abaterankunga aho mushobora guhura n'abandi bahuye n'ibintu nk'ibyo. Ibi bishobora kuba isoko ikomeye y'imbaraga.

Indwara zigabanya buhoro buhoro uturemangingo tw’imitsi, nka Sanfilippo syndrome, zishobora kugira ingaruka mbi cyane ku buzima bwawe n’ubw’umuryango wawe ndetse n’ubuzima bwiza. Ababyeyi n’abarera abana barwaye Sanfilippo syndrome bari mu kaga ko kurwara indwara nka Post-Traumatic Stress Disorder (PTSD) . Kubwibyo, ugomba no kwita ku buzima bwawe bwo mu mutwe. Niba ufite ikibazo cyo kwiheba, guhangayika, cyangwa stress igihe kirekire, menya neza ko wagiye kwa muganga w’indwara zo mu mutwe cyangwa umujyanama.

Ni ryari umwana wanjye agomba kujya kwa muganga?

Ugomba gusaba itsinda ry’abaganga b’umwana wawe kumusuzuma buri mezi 6 kugeza kuri 12 (cyangwa kenshi) kugira ngo bamenye impinduka mu bushobozi bwe bwo mu mutwe, ubuhanga bwe mu mikorere, n’imyitwarire ye. Niba ubonye ibimenyetso bishya, cyangwa niba ibimenyetso byawe bisa n’aho birushaho kwiyongera, vugana n’itsinda ry’abaganga b’umwana wawe vuba.

Amaherezo, ibintu byo kwibuka

Ni ibisanzwe kumva uremerewe kandi ugatungurwa iyo wumvise indwara ya Sanfilippo syndrome. Ariko ibuka ko itsinda ry’abaganga b’umwana wawe rizaguha gahunda yuzuye y’ubuvuzi ijyanye n’umwana wawe. Ni ngombwa kumenya neza ko wowe, umwana wawe, n’umuryango wawe muhabwa ubufasha bakeneye, no gukomeza kuba maso ku buzima bw’umwana wawe. Itsinda ry’abaganga b’umwana wawe ryiteguye kugufasha muri buri ntambwe. Ntugatinye, hangana n’iki kibazo ubigiranye ubutwari. Ntugatinye kumenya amakuru ukeneye, kubaza ibibazo, no kubona ubufasha ukeneye.

Indwara ya Sanfilippo, indwara ziterwa n'uturemangingo, indwara z'abana, uturemangingo tw'imitsi, enzymes, mucopolysaccharidosis