I-Hurler's Syndrome: izizathu, unyango nezithombe

I-Mucopolysaccharidosis ligama eliqhelekileyo ngezifo ezingabonakaliyo eziyimvelo. I-pathology ivela ngenxa yokungabi nxalenye emzimbeni wee-enzyme ezithile ezinceda ukuphula amafutha kunye ne-carbohydrates zibe iamoleksi elula. Eli nqaku lihlolisise i-mucopolysaccharidosis uhlobo 1-isifo se-Hurler.

Izizathu

Esi sifo sinesifazana ngendlela yokuzimela ngokweqile. Ikhula ngenxa yezinto eziphazamisayo ekutshintsheni kwe-mucopolysaccharides.

Pathogenesis

I-Mucopolysaccharidosis ibhekisela kwizifo ezibizwa ngokuba yi-lysosomal. Ngenxa yokusilela kwe-enzyme ye-lysosomal, i-catabolism ye-glycosaminoglycans iyanqandwa. Ziqokelela kwiishubhu kunye nezitho, ziphazamisa ukusebenza komzimba kunye neenkqubo zayo. Okokuqala, i-skeleton iyachithwa kwaye ukuphuculwa komzimba kubambezeleka.

Izimpawu zangaphandle kunye neempawu zesifo

Iimpawu zeso sifo zibonakaliswa ngendlela yeziphene kwithambo, ukuxhamla, izicubu zomzimba. Iimpawu eziphambili kukukhawuleza ukukhula. Esi sibonakaliso singatholakala ngaphambilana nabanye, ngokuqhelekileyo ekupheleni konyaka wokuqala wobomi kuyacaca ukuba umntwana ulahla emva kokukhula.

Kwakhona, i-mucopolysaccharidosis inokucingwa ngokubona izinto ezinzima. Kwizigulane ezineelwimi ezinkulu, i-hypertelosyrum (ibanga elide kakhulu phakathi kwamalungu omzimba, kwimeko apha phakathi kwamehlo), iindlebe eziphosakeleyo, ibunzi lixhomeke, amazinyo aphihliwe.

Iimpawu ze-mucopolysaccharidosis ziquka ukukhubazeka kwesifuba, i- kyphosis ebizwa nge-thoracolumbar spine. Xa uqhuba i-X-ray, kunokwenzeka ukuba ufumane intsholongwane engasemva kwe-occipital-parietal suture ngaphandle kokuphula i-nuclei ye-ossification.

Kwiimeko ezininzi, eso sifo sihamba kunye nokuncipha kokuhamba ngokubambisana, i-hernia yesisu, i-hepatosplenomegaly (ukwandiswa kwesibindi kunye ne-pleen ngenxa yeenkqubo zentsholongwane ezenzeka ngenxa yesifo).

Kusuka kwinqanaba le-neurology, ukulibala kweemoto kunye ne-hypotension ye-muscular. Kwakhona, kunye ne-mucopolysaccharidosis, kukho ukuncipha kweentlebe kunye nokuhla kweengcaphephe, ukuhlaselwa kwesifo sengqondo somzimba. Njengomphumo wezilonda zesistim eqhubekayo zamathambo, izitho zangaphakathi nazo ziphantsi kokuphazamiseka kwizigaba ezihlukeneyo.

Iintlobo ze-mucopolysaccharidosis

Kukho iintlobo ezininzi zezifo ezahlukileyo ekutshintsheni kwethambo kunye neengxaki zengqondo:

• I-syndrome ye-Hurler.
• II - Gunther's syndrome (Hunter).
• III - iSanfilippo syndrome.
• IV - Morkio syndrome.
• VI - I-Maroto-Lamy isifo.
• VII - Slia syndrome.

Ukwahlula kwiindlela zonyango zamazwe ahlukeneyo kunokuhluka. Ngohlobo V, iSyye syndrome ihlala ikhulile. Kwiindawo zaseMerika, izigulane ezine-mucopolysaridosis zahlula ngobunzima beempawu zohlobo lokuqala kwaye zahlula ezintathu ze-phenotypes: i-Hurler syndrome, i-Scheye syndrome kunye phakathi kwabo kwi-Hurler-Scheye syndrome (inzima kakhulu, i-Chelier iyona elula).

Hurler's Syndrome

Eli fom liqhelekile kunabanye kwaye lichazwe ngaphambili kwamanye ama-syndromes. Ukongezelela, umfanekiso wekliniki ngowona nto ibonakalayo kwaye iyafana nayo yonke inhlobo ye-mucopolysaccharidosis.

I-syndrome ye-Hurler ikhula ngenxa ye-autosomal inheritance. Olu hlobo lwesifo lubonakala kwinkqubela phambili ngokukhawuleza. Nangona i-mucopolysaccharidosis yohlobo lokuqala lifana neyesibini (Gunther, okanye i-Hunter), esi sisifo esiyinkimbinkimbi. Ngethuba lokuqala leli fomu luchazwe ngo-1919 nguGertrude Hurler (ngoko igama elichanekileyo liyi-Hurler syndrome, kungekhona iHller). Ukuphindaphinda kwimeko enye yabantu abangama-20-25 amawaka, kwaye kwiimeko ezininzi abazali bomntwana ogulayo baxhamla egazini. Ngoko ke, ukuba ukuxilongwa kwenzelwa "ye-Hurler's syndrome", izizathu kufuneka zifunwe kwiqondo lofuzo. Izibonakaliso zivela ngokukhawuleza emva kokuzalwa, kwaye ngomnyaka okanye emibini umfanekiso wekliniki sele uvele uvakaliswe ngokupheleleyo.

Isifo se-Hurler sibonakaliso sesibini sesi sifo. Njengoko isifo sifana, ukukhula kuyancipha, kukho ukubonakala okubonakalayo kwe-cornea, iimpahla zempumlo ziphazamiseke ngegazi. Ngolu hlobo lwesifo, ukwandiswa kwesiliti saseTurkey, ukunciphisa kunye nokwandiswa kwamathambo amathambo, i-hypoplasia kunye nobuqili be-vertebrae yendawo eselungileyo (okubizwa ngokuba yi-vertebrae yeentlanzi), ukuguqulwa komqolo wamagxa kungabonwa kule fomu yesifo (izigulane ziphethwe yi-kyphosis kunye ne-lordosis ye-thoracolumbar kwingingqi yomgudu). I-pathologies ye-cardiovascular system iqala-i-coronary arteries i-cloggedary, i-valves, i-myocardium, i-endocardium change, intliziyo ikhula ngobukhulu.

Kukho i-hydrocephalus, imbangela yaloo nto idiphozithi ye-mucopolysaccharides kumazwi. I-Foci yokudibanisa iyanqunywa. I-Mucopolysaccharides ifakwe kwisibindi, i-spleen, i-epithelium yamathambo e-renal; I-Retina, i-sclera, i-cornea yelihlo; Iisensi zegazi, i-cartilage.

Abantwana sele bezalwe ngokubonakala kwimibala - baneempawu ezibalaseleyo, ngenxa yeliphi igama elithi mukopolisaharoidozov - gargoilizm (ukusuka kwigama elithi "gargoyle" - umfanekiso omangalisayo kunye nezinto ezingavumelekanga), kuquka okubizwa kanjalo kunye nesifo se-Hurler. Iifoto ezibonisa izigulane zibonisa ukuphazamiseka okumangalisayo kwempawu zomntwana. Kubantwana abanjalo, igugu litshintshile - lithatha isimo se-keel yesiqhekeza, esibizwa ngokuba yi-scaphocephaly, impumlo ephahliweyo, imilomo emininzi, ulwimi olukhulu, intloko ephakamileyo, intamo emfutshane kunye nesibonakaliso sobuso. Ngaphandle, oku kukukhumbuza ngokwenene indlela i-gargoyles elandelwa ngayo.

Kananjalo banomncinci wokunciphisa intambo, izimbambo ezisezantsi zikhokelela, kukho imiqondiso ye-kyphosis, amajoyina (ikakhulukazi iminwe kunye neengqungquthela) ayisebenzi, kunokuthi kubekho i-hernias engasininal and umbilical hernias. Izipikili zithatha uhlobo lweegalazi zokubukela, iinwele ziba nzima kwaye zome, i-voice-low ne-husky. Ubunokwenzeka bokuzithulu okanye ukungazithulu. Izigulane zihlala zihlanjelwa ukubola kwezinyo, eziphazamisa i-syndrome ye-Hurler.

Iimpawu ziquka ukukhubazeka kwenkqubo yokuphefumula, ngenxa yoko umntwana uphefumula umlomo wakhe, unayo i-adenoids, unyanzelekile ukusuleleka kwiintsholongwane. Ngokuhamba kwexesha, wavelisa iingxaki ezithile ze-mucopolysaccharidosis nesibindi kunye nesantya (ngenxa yoko, isisu sandisiwe), isifo sengqondo.

Ukhula luhlala ludaka. Ngenxa yesimo esingalunganga kunye nokukhubazeka komgudu, izigulane zihamba ngeemilenze zazo ezinqambileyo, kwii-tiptoes.

I-Hurler's syndrome yinto eqhubekayo embi, ngoko ukukhubazeka kwezigulane kukhawuleza kakhulu. Abaninzi abahlali kwiminyaka eyi-10.

Diagnostics

Isigulane sidinga ukuqhuba iiklinikhi, i-radiologic, i-biochemical, i-genealogical, kunye nee-molecular-genetic studies. Ukuxilongwa kusekelwe kwizibonakaliso zekliniki zesi sifo, ngokusekelwe kwi-X-ray kunye nokuhlaziywa kwemithi, ebonisa umsebenzi wee-enzyme kunye ne-excretion ye-glycosaminoglycans.

Unyango lwe-mucopolysaccharidosis

Ukuba isigulane sifumene "nesifo se-Hurler", unyango lufanele lube luphawu oluthile. Isigulane siyabonwa ngokucacileyo kwi-orthopedist, ugqirha, udokotela wezilwanyana, i-otolaryngologist, i-neurosurgeon, i-ophthalmologist kunye neurologist. Isigulane sibheka ukulungiswa kwamathambo okuphazamiseka kwemisipha, sisusa ama-hernias, senza izifo zentsholongwane rhoqo kwizigulane, izifo zentetho, i-otitis, i-sinusitis. Kwakhona ngaphantsi kokuqwalasela yindlela ye-cardiovascular system.

Iziyobisi zonyango ezisetyenziselwa ukuphucula okwesikhashana imeko yesigulane:

• Glucocorticoids,
• Corticotropin,
• Thyroidin.

Ukongezelela, isigulane siboniswa i-vitamin A, dextran 70, ephucula okwesikhashana imeko yesigulane. Ukuphuculwa kwexesha elifutshane kubangela ukunyuswa kwamalungiselelo eplasma yegazi.

Kwimeko ye-Gurler's syndrome, unyango lwe-physiotherapeutic lunokumiselwa isigulane: i-lidase electrophoresis kwindawo edibeneyo, i-laser puncture, magnetotherapy, izicelo zeparafini. Kukwacetyiswa ukuba izigulane zibandakanyeke unyango lomzimba, olusebenzayo luchaphazela amalunga nomgudu. Iziphumo ezilungileyo zisoloko zinika i-massage.

Ekubeni izigulane ezine-Gurler syndrome zithinteka kwizifo zokuphefumula, kuyimfuneko ukuba ihlalutye ngexesha elifanelekileyo lezonyango emlonyeni nase nasopharynx.

Ukunyangwa kwe-mucopolysaccharidosis hlobo 1, ukunyangwa kwamanyathelo okucwangca kudlalwa ngokuphindaphindiweyo-ukuguqulwa kwe-corneal kunye nokulungiswa kweziphene zentliziyo ye-valvular kunye nokukhubazeka kweentliziyo. Kwimisebenzi yamazwe ngamazwe, ukongeza kwonyango olumqondiso kunye neyeza, uphethiloli okanye ukungenelela, ukusetyenziswa kwe-enzyme yonyango kusetyenziswe, kunye nokufakelwa kwe-cell stem.

Ukuba kuyimfuneko, isigulane sibhekana nokusasazeka, ukususwa kwe-adenoids, imisebenzi ye-antiglaukomatous, i-tracheostomy, i-hip joint prosthetics, ukuxubha nge-hydrocephalus, njl njl.

Forecast

I-prognosis ayinakulungeleka kokubili i-Hurler syndrome kunye nezinye iifom e-mucopolysaccharidosis. Isifo se-Hurler sisona sithemba. Utshintsho kumasipha luya kunyuka minyaka yonke, ngenxa yokokuba iziko kunye neenkqubo ziphantsi kokuphulwa okungakumbi. Ukuba umntwana akafi ngenxa yempumoniya kwangoko, ngo-7-12 ubudala sele ekhubazekile ngokomzimba nangokwengqondo. Kuze kube budala ubudala buhlala ezimbalwa.

Thintelo

Akunakwenzeka ukukhusela esi sifo. Kodwa unokuyifumana kwisigaba sokuqala - ukuxilongwa kwangaphambi kokubeletha. Ngenxa yale njongo, ukuhlaziywa kwamaseli amniotic okwenyuka kwe-enzyme kuyenziwa (kwimeko yokukhulelwa okulungileyo, ukukhupha isisu kucetyiswa).

Ngenxa yokuxilongwa kwangaphambili kwaye unyango olufanelekileyo ngexesha lokunyanzeliswa kwentambo yomgudu, umonakalo ongenakunqandeka unokuphetshwa. Ukufumana i-prophylaxis, ukubonisana kwezonyango zonyango kuyimfuneko.

Ukuxhamlaliswa kwonyango

Nangona kukho ubunzima ngokubhekiselele kwonyango lwe-Gurler syndrome, ukutsalwa komongo we-bone usetyenziswe kumazwe amaninzi athuthukile kwiminyaka engama-20 edlulileyo, okuphucula kakhulu umgangatho wobomi bezigulane. Kwiminyaka engaphezu kwe-10, izidakamizwa zonyango zentsholongwane zisetyenziselwe ukuphatha zonke iimbonakalo ze-mucopolysaccharidosis.