Mwana wenyu mudiki ane zviratidzo izvi here? Ngatidzidzei nezveSanfilippo Syndrome

Pane shanduko dziri kuitika mumaitiro emwana wako, matauriro ake, kana chitarisiko chake dzaunoona dzakaoma kunzwisisa here? Dzimwe nguva hatizivi zvakawanda nezvezvirwere zvinobata vana vadiki, saka tinotanga kufunga nezvechimwe chinhu. Nhasi, tichataura nezvechirwere chakaoma zvishoma, asi chinofanira kuzivikanwa nemunhu wese. Ichi chinonzi Sanfilippo syndrome . Usazvidya mwoyo, tichataura nezvazvo zvakadzama uye zviri nyore.

Chii chinonzi Sanfilippo Syndrome?

Zvichitaurwa zviri nyore, chirwere cheSanfilippo chirwere chemajini chinotorwa nhaka . Chaizvoizvo iboka rezvirwere. Chinonyanya kukanganisa sisitimu yetsinga yemwana wako, iyo iri uropi nemusana. Izvi zvinogona kukonzera zviratidzo zvakasiyana-siyana munzvimbo dzepfungwa dzemwana, maitiro ake, uye panyama. Zvinosuwisa kuti zviratidzo izvi zvinowanzowedzera nekufamba kwenguva, uye chirwere ichi chinogona kupfupisa hupenyu hwevana.

Rimwe zita reizvi ndimucopolysaccharidosis type III (MPS III) .

Funga nezvazvo, mukati memasero edu mune "nzvimbo diki dzekurasa marara." Idzi dzinonzi lysosomes . Idzi ndidzo dzinoputsa nekubvisa zvinhu zvisingadiwe, kana kuti "marara," anoungana mukati memasero. Mwana ane Sanfilippo syndrome haana kukwana mune imwe yema enzyme mana anodiwa kuti aparadze carbohydrate yakaoma inonzi heparan sulfate ( inonziwo glycosaminoglycan ). Nekuti iyi enzyme haisi kushanda nemazvo, chinhu chinonzi heparan sulfate chinoungana mukati memasero emwana, nyama, uye nhengo. Kuungana uku kunokonzera kukuvara kwavari. Uku ndiko kwatinodaidza kuti lysosomal storage disorder .

Kune marudzi eSanfilippo Syndrome here?

Ehe, kune mhando huru ina dzeizvi. Rudzi rumwe nerumwe runokonzerwa nekushaikwa kweenzyme yakasiyana.

• Rudzi A: Kushaikwa kwe enzyme sulfamidase.
• Rudzi B: Kushaikwa kwe enzyme alpha-N-acetylglucosaminidase.
• Rudzi C: Kushaikwa kwe enzyme inonzi heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase.
• Rudzi D: Kushaikwa kwe enzyme N-acetylglucosamine 6-sulfatase.

Pamhando idzi, mhando A ndiyo inonyanya kuzivikanwa pasi rose , nepo mhando D isiriyo inonyanya kuzivikanwa.

Dambudziko iri rakajairika zvakadii?

Sanfilippo syndrome chirwere chisingawanzoitiki.. Sekureva kwevaongorori, izvi zvinobata munhu mumwe chete pavanhu 50,000 kusvika 250,000. Saka unogona kuona kuti izvi hazviwanzoitiki.

Ndezvipi zviratidzo zveSanfilippo Syndrome?

Zviratidzo uye kuoma kwechirwere ichi zvinogona kusiyana kubva pamwana kuenda kumwana, pamwe zvichienderana nerudzi rwechirwere. Zvimwe zvezviratidzo zvekutanga zvinogona kuonekwa muvana vacheche nevana vadiki zvinosanganisira:

• Zvimiro zvechiso zvisina kunaka .
• Eyes dzakapfava uye dzakapenya.
• Kuva nebvudzi remuviri rakanyanya kupfuura zvakajairika (hirsutism) hakudziki nekufamba kwenguva.
• Musoro wakakura kupfuura zvakajairika (macrocephaly).
• Matambudziko ekurara, kuoma kurara.
• Matambudziko ekufema, semuenzaniso, kuvharika kwenzeve nemhino, kuoma kufema.
• Kurwadziwa kwakanyanya mudumbu uye kuchema (zviitiko zvakaita secolic).
• Manyoka anowanzoitika.

Ungasaona zviratidzo izvi nekukurumidza. Mwana wako paanokura, zvimwe zviratidzo zvine chekuita neSanfilippo syndrome zvinotanga kuoneka. Zviratidzo izvi zvinowanzoonekwa pakati pemakore 1 ne4 .

Hunhu hune chekuita nehurongwa hwetsinga uye maitiro:

• Kunonoka pakutaura neunyanzvi hwemutauro (kazhinji chiratidzo chekutanga).
• Kukura kwemwana kunononoka pasina chikonzero chaicho (non-specific development delay).
• Mano epfungwa anoderera nekufamba kwenguva.
• Hunhu hwehasha kana hwekuparadza .
• Kusashanda nesimba.
• Maitiro asina hanya, kutsamwa kamwe kamwe (hasha).
• Kusatya zvinhu zvine njodzi.
• Kuruma, kubvarura, kuyamwa, kana kumedza kakawanda (hyperoralality).
• Kusagadzikana.
• Matambudziko ekurara - kutya kurara, parasomnias, sleep apnea.
• Kuchinja kwemafambiro ekufamba, semuenzaniso, kufamba kwetsoka .
• Kuoma kwemuviri, kuputika kweganda.
• Kubatwa nepfari.

Zviratidzo zvenzeve, mhino, nepahuro:

• Kurasikirwa nekunzwa.
• Kutapukirwa nenzeve kakawanda (otitis).
• Kuvharika kwemhino nguva dzose.
• Kuda kubviswa adenoids nematonsils (adenotonsillectomy) vasati vasvika vana vakajairwa.

Zvimwe zviratidzo:

• Manyoka kana kuvimbiwa kwenguva refu.
• Kuzvimba.
• Kusagadzikana kwedumbu.
• Kusarongeka kwemutinhimira wemoyo (arrhythmia).
• Chirwere chetsandanyama dzemwoyo (cardiomyopathy).
• Kuomarara kwemajoini.
• Kurwara neScoliosis.

Chii chinokonzera Sanfilippo Syndrome?

Sezvatakambotaura, Sanfilippo syndrome chirwere cheLysosomal Storage Disease (LSD).Chirwere chemajini chiri muboka rinonzi. Vanhu vane chirwere ichi vanounganidza zvinhu zvine chepfu mumasero emuviri wavo. Chikonzero cheizvi ndechekuti mamwe ma enzymes mumuviri wavo haashande zvakanaka kana kuti haapo . Kana ma enzymes aya asipo, muviri wedu haugone kupwanyika nekubvisa zvimwe zvinhu. Ndipo pazvinoungana mumuviri ndipo pazvinova zvinokuvadza.

MuSanfilippo syndrome, rimwe rema enzyme mana anobatsira kuputsa chinhu chinonzi heparan sulfate harisipo. Heparan sulfate inobva yaungana mumasero yoakuvadza. Kuunganidzwa uku kunonyanya kukanganisa masero europi hwemwana .

Kushaikwa kwema enzyme uku kunokonzerwa nekuchinja kwemajini , kunyanya kuchinja kwemajini akaita seSGSH gene .

Kuchinja kwemajini uku kunogara nhaka mwana kubva kuvabereki vese. Izvi zvinonzi autosomal recessive pattern yenhaka. Izvi zvinoreva kuti vabereki vese vanofanira kunge vari ivo vanotakura jini rakachinjwa. Zvisinei, mutakuri wejini iri haawanzo kuratidza zviratidzo.

Ungaongorora sei chirwere ichi nemazvo?

Nekuti chirwere cheSanfilippo chisingawanzoitiki uye zviratidzo zvacho zvakafanana nezvezvimwe zvirwere zvakajairika , kuongororwa kwechirwere kunogona kunonoka. Vanachiremba vanogona kuona chirwere ichi zvisizvo sedambudziko rekunonoka kukura, Attention-Deficit/Hyperactivity Disorder (ADHD) , kana autism .

Chiremba wemwana wenyu achaita bvunzo yemuviri uye bvunzo yetsinga. Vachabvunzawo nezvezviratidzo zvemwana wenyu uye nhoroondo yezvekurapa kwake. Vanogonawo kuraira bvunzo kuti vaone kana paine zvimwe zvirwere.

Miedzo inobatsira kusimbisa kuongororwa kweSanfilippo syndrome ndeiyi:

• Kuongororwa kweweti yeGAG: Muenzaniso weweti yemwana unoongororwa kuti hapana chinhu chinonzi glycosaminoglycans (GAG) .
• Kuongororwa kwema enzyme: Basa rema enzyme akakodzera rinoyerwa muropa.
• Kuongororwa kwemajini: Kuongororwa uku kunogona kutarisa shanduko dzemajini (kuchinja kwemajini) dzinozivikanwa kuti dzine chekuita neSanfilippo syndrome.

Pamusoro pezvo, chiremba anogona kukurudzira mimwe miedzo kuti vaone kana paine kukuvara kwenhengo dzemuviri kana nyama dzemwana. Semuenzaniso:

• Kuongororwa kweMRI yeuropi.
• Kuongororwa kwemaziso.
• Kuongororwa kwekunzwa.
• Kuongororwa kwemoyo - kwakadai se echocardiogram uye electrocardiogram (EKG) .
• Chidzidzo chekurara.
• Kuongororwa kweX-ray.

Kuongororwa kwehurwere hwemwana asati aberekwa

Kana mumwe munhu mumhuri menyu akambova neSanfilippo syndrome, chiremba wenyu anogona kukurudzira kuti mwana wenyu asati aberekwa aonekwe kuti ane chirwere ichi here panguva yekuzvitakura. Izvi zvinogona kuitwa kuburikidza nemiedzo yakaita seamniocentesis kana chorionic villus sampling .

Ndeapi marapirwo eSanfilippo Syndrome?

Zvinosuwisa kuti parizvino hapana mushonga kana mushonga unogadzirisa chirwere cheSanfilippo syndrome . Kurapa kwacho kwakatarisana nekutarisira zviratidzo uye kutarisirwa kwevarwere . Nekuti chirwere ichi chinokanganisa zvinhu zvakawanda zvehutano hwemwana, chikwata chevanachiremba vane hunyanzvi hwakasiyana-siyana chinodiwa kurapa mwana. Chikwata ichi chinogona kusanganisira:

• Vanachiremba vevana.
• Vanachiremba vepfungwa vevana.
• Varapi vemuviri.
• Varapi vezvemabasa.
• Nyanzvi dzezvirwere zvemutauro wekutaura.
• Vanachiremba vemaziso (nyanzvi dzenzeve, mhuno, uye pahuro).
• Vanachiremba vepfungwa dzevana.
• Vashandi vezvemagariro evanhu.
• Vadzidzisi vakakosha.

Nyanzvi idzi dzinokurudzira mishonga, marapirwo, uye zvishandiso zvekubatsira zvakagadzirirwa zvinodiwa nemwana. Zvinangwa zvikuru zvekurapa ndezvekuchengetedza kurovedza muviri kwemwana, kuwedzera kugona kwake, uye kuchengetedza hupenyu hwake hwepamusoro-soro.

Mwana wako anogonawo kuwana mukana wekutora chikamu mukuyedzwa kwekiriniki . Bvunza timu yevanachiremba vemwana wako nezveizvi. Vatsvagurudzi vari kudzidza nezvekurapa kweSanfilippo syndrome. Semuenzaniso:

• Kurapa kwekutsiva ma enzyme.
• Kuisirwa kwemasero emuviri.
• Kurapa majini.

Muchikamu chekupedzisira chechirwere, chinonyanya kukosha pakurapa ndechekuchengetedza hupenyu hwakanaka uye kudzivirira matambudziko.

Chii chandinofanira kutarisira kana mwana wangu aine Sanfilippo Syndrome?

Kana mwana wako aine chirwere cheSanfilippo, ungangoda kugadzwa nachiremba nguva nenguva uye kuongororwa. Zvinogona kuoma kunzwisisa chirwere ichi chakaoma panguva imwe chete. Asi yeuka, timu yevanachiremba yemwana wako inewe nhanho imwe neimwe. Nekuti chirwere cheSanfilippo chinokanganisa mwana wega wega zvakasiyana, timu yevanachiremba yemwana wako inogona kukupa mazano akanakisisa ekuti ramangwana remwana wako nemhuri yako richamira sei.

Muchikamu chekupedzisira cheSanfilippo syndrome, mwana wako anogona kazhinji kusangana nezvinotevera:

• Kusabatana kwavanoita nenzvimbo dzavanogara.
• Dambudziko repfungwa .
• Kurasikirwa nekushanda kwemuviri sekufamba, kutaura, uye kudya.

Matambudziko aya ehutano anowedzera nekufamba kwenguva uye anogona kupedzisira akonzera rufu. Zvirwere zvekufema, kunyanya pneumonia , ndizvo zvinonyanya kukonzera rufu.

Munhu ane chirwere cheSanfilippo Syndrome anotarisirwa kurarama kwenguva yakareba sei?

Mukudzidza kwakaitwa pavarwere 113 vane chirwere cheSanfilippo, avhareji yehupenyu hwevanhu vanotarisirwa kuva:

• Rudzi A: Pakati pemakore gumi nerimwe negumi nemapfumbamwe.
• Rudzi B: Pakati pemakore gumi nemaviri kusvika gumi nematanhatu.
• Rudzi C: Pakati pemakore 14 ne32.

Rudzi D haruwanzoitiki, saka hapana ruzivo rwakakwana nezvarwo.

Asi chinonyanya kukosha ndechekuti mwana wese ane chirwere cheSanfilippo akasiyana . Chikwata chevanachiremba vemwana wako ndicho chichave munhu akakodzera kukupa pfungwa yakanaka yekuti chirwere ichi chichakanganisa sei hutano hwemwana wako.

Sanfilippo Syndrome inogona kudzivirirwa here?

Nekuti Sanfilippo syndrome chirwere chinokonzerwa nemajini, hapana chaunogona kuita kuti uidzivirire .

Usati wava nemwana, kana uchinetseka nezvenjodzi yekupfuudza chirwere cheSanfilippo syndrome kana zvimwe zvirwere zvemajini kumwana wako, zvakanaka kutaura nachiremba wowana mazano ezvemajini .

Kana mwana wangu aine chirwere cheSanfilippo Syndrome, ndinofanira kumuchengeta sei?

Kana mwana wako aine chirwere cheSanfilippo, zvakakosha kuti uve nechokwadi chekuti anowana rubatsiro rwehutano rwakanakisisa . Nekutsigira mwana wako, unogona kubatsira kuona kuti ane hupenyu hwakanaka.

Iwe nemhuri yako munogonawo kubatana neboka rekutsigirana kwamunogona kusangana nevamwe vakambosanganawo nedambudziko rakafanana nerako. Izvi zvinogona kuva simba guru.

Zvirwere zvinoderedza simba retsinga zvishoma nezvishoma, zvakaita seSanfilippo syndrome, zvinogona kukanganisa hutano hwepfungwa dzako nehwemhuri yako uye hupenyu hwemhuri yako. Vabereki nevanotarisira vana vane Sanfilippo syndrome vari panjodzi yakakura yekubatwa nezvirwere zvakaita sePost -Traumatic Stress Disorder (PTSD) . Saka, unofanirawo kutarisira hutano hwepfungwa dzako. Kana uri kusangana nekuora mwoyo, kuzvidya mwoyo, kana kushushikana kwenguva refu, iva nechokwadi chekuona chiremba wepfungwa kana mupi wezano.

Mwana wangu anofanira kuona chiremba rini?

Unofanira kuita kuti timu yevanachiremba yemwana wako imuongorore nguva nenguva mwedzi mitanhatu kusvika gumi nemiviri yega yega (kana kupfuura) kuti uone shanduko muhungwaru hwake, hunyanzvi hwekufamba kwemuviri, uye maitiro ake. Kana ukaona zviratidzo zvitsva, kana kuti zviratidzo zvako zvichiratidza kunge zviri kuwedzera kuipa, taura nechikwata chevanachiremba chemwana wako nekukasika.

Pakupedzisira, zvinhu zvekurangarira

Zvakajairika kunzwa wakaremerwa uye wakashamisika paunonzwa kuti une chirwere cheSanfilippo. Asi yeuka, timu yevanachiremba yemwana wako ichapa hurongwa hwakazara hwekutarisira hwakanangana nemwana wako. Zvakakosha kuve nechokwadi chekuti iwe, mwana wako, nemhuri yako munowana rutsigiro rwavanoda, uye kugara makangwarira hutano hwemwana wenyu. Timu yevanachiremba yemwana wenyu yakagadzirira kukutsigirai nhanho imwe neimwe yenzira. Musavhunduka, tarisana nedambudziko iri neushingi. Musazeza kudzidza ruzivo rwamunoda, bvunzai mibvunzo, uye kuwana rubatsiro rwamunoda.

" Sanfilippo syndrome, zvirwere zvemajini, zvirwere zvevana, sisitimu yetsinga, ma enzyme, mucopolysaccharidosis."