I-Rett syndrome

I-Rett syndrome (i-RTT) ukuphazamiseka kwesistimu yezinzwa. Lesi simo siholela ezinkingeni zokukhula ezinganeni. Kuthinta kakhulu amakhono olimi nokusetshenziswa kwezandla.

I-RTT yenzeka cishe njalo emantombazaneni. Kungatholwa njenge-autism noma i-cerebral palsy.

Amacala amaningi we-RTT abangelwa inkinga kuhlobo olubizwa nge-MECP2. Lesi sakhi sikwi-X chromosome. Abesifazane banama-chromosomes ama-2 X. Ngisho noma i-chromosome eyodwa inale nkinga, enye i-chromosome engu-X ivamile ngokwanele ukuba ingane iphile.

Abesilisa abazalwa nalesi sakhi sofuzo abanayo i-chromosome engu-X yesibili yokwenza le nkinga. Ngakho-ke, ukukhubazeka kuvame ukuholela ekuphuphumeni kwesisu, ekubelethweni, noma ekufeni ngaphambi kwesikhathi.

Usana olune-RTT imvamisa lukhula ngokujwayelekile ezinyangeni zokuqala eziyisithupha kuya kwezingu-18. Izimpawu zisukela kokumnene kuya kokubi.

Izimpawu zingafaka:

• Izinkinga zokuphefumula, ezingaba zimbi kakhulu ngokucindezeleka. Ukuphefumula kuvame ukujwayelekile ngesikhathi sokulala nokungajwayelekile ngenkathi uphapheme.
• Shintsha entuthukweni.
• Amathe ngokweqile nokukhipha amathe.
• Izingalo nemilenze eyi-Floppy, okuvame ukuba uphawu lokuqala.
• Ukukhubazeka kwengqondo kanye nobunzima bokufunda.
• I-Scoliosis.
• Ukuhamba okunyikinyikayo, okungagxilile, okuqinile noma okuzwane.
• Ukuquleka.
• Ukukhula kwekhanda okwehlisayo kuqala ezinyangeni ezinhlanu kuya kweziyisithupha ubudala.
• Ukulahlekelwa kwezindlela zokulala ezivamile.
• Ukulahleka kokunyakaza kwezandla okunenjongo: Isibonelo, i-grasp esetshenziselwe ukucosha izinto ezincane ithathelwa indawo yiminyakazo yezandla ephindaphindwayo njengokuncipha kwesandla noma ukubekwa njalo kwezandla emlonyeni.
• Ukulahlekelwa kokuzibandakanya nomphakathi.
• Ukuqunjelwa okuqhubekayo, okunzima kanye ne-reflux ye-gastroesophageal (GERD).
• Ukusakazeka okungafanele okungaholela ezingalweni nasemilenzeni ebandayo naluhlaza okwesibhakabhaka.
• Izinkinga ezinzima zokuthuthukiswa kolimi.

QAPHELA: Izinkinga ngamaphethini okuphefumula kungaba uphawu olucasulayo nolunzima kakhulu okufanele abazali balubuke. Ukuthi kungani zenzeka nokuthi yini okufanele zenziwe ngazo akuqondakali kahle. Ochwepheshe abaningi bancoma ukuthi abazali bahlale bezolile ngesiqephu sokuphefumula okungajwayelekile njengokuphefumula okubambe. Kungasiza ukuzikhumbuza ukuthi ukuphefumula okujwayelekile kubuya njalo nokuthi ingane yakho izokujwayela iphethini engavamile yokuphefumula.

Ukuhlolwa kofuzo kungenziwa ukubheka ukukhubazeka kofuzo. Kepha, njengoba ukukhubazeka kungabonakali kuwo wonke umuntu onalesi sifo, ukuxilongwa kwe-RTT kusekelwe ezimpawu.

Kunezinhlobo ezahlukahlukene ze-RTT:

• Okungajwayelekile
• Okwakudala (kuhlangabezana nenqubo yokuxilonga)
• Okwesikhashana (ezinye izimpawu zivela phakathi kweminyaka engu-1 no-3)

I-RTT ihlukaniswa njenge-atypical uma:

• Iqala kusenesikhathi (ngemuva nje kokuzalwa) noma sekwephuzile (ngaphezu kwezinyanga eziyi-18 ubudala, kwesinye isikhathi ifike eminyakeni emithathu noma emi-4 ubudala)
• Izinkinga zokukhuluma nezandla zincane
• Uma kuvela kumfana (akuvamile kakhulu)

Ukwelashwa kungafaka:

• Siza ngokondla nangokwenza i-diapering
• Izindlela zokwelapha ukuqunjelwa kanye ne-GERD
• Ukwelashwa ngokomzimba ukusiza ukuvimbela izinkinga zezandla
• Ukuzivocavoca okuthwala isisindo nge-scoliosis

Ukondliwa okwengeziwe kungasiza ekukhuleni okuhamba kancane. Ishubhu yokondla ingadingeka uma ingane iphefumula ekudleni (aspirates). Ukudla okunama-kilojoule amaningi namafutha ahlanganiswe namashubhu wokondla kungasiza ukukhulisa isisindo nokuphakama. Ukuzuza kwesisindo kungathuthukisa ukuqapha nokuxhumana nabantu.

Imithi ingasetshenziswa ukwelapha ukuquleka. Izithasiselo zingazanywa ukuqunjelwa, ukuqapha, noma imisipha eqinile.

Ukwelashwa kwe-stem cell, kukodwa noma kuhlanganiswe nokwelashwa kofuzo, kungenye indlela yokwelapha enethemba.

Amaqembu alandelayo anganikeza imininingwane eminingi nge-Rett syndrome:

• I-International Rett Syndrome Foundation - www.rettsyndrome.org
• Isikhungo Sikazwelonke Sokuphazamiseka Kwemizwa Ne-Stroke - www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/rett-syndrome

Lesi sifo siya ngokuya siba sibi kuze kube yiminyaka yobusha. Ngemuva kwalokho, izimpawu zingathuthuka. Isibonelo, izinkinga zokubanjwa noma zokuphefumula zivame ukwehla eminyakeni yentsha.

Ukubambezeleka kwentuthuko kuyahlukahluka. Imvamisa, ingane ene-RTT ihlala kahle, kepha kungenzeka ingakhasi. Kulabo abakhasa, abaningi bakwenza lokho ngokugoba isisu sabo ngaphandle kokusebenzisa izandla.

Ngokufanayo, ezinye izingane zihamba ngokuzimela ngaphakathi kwebanga elijwayelekile leminyaka, kanti ezinye:

• Uyabambezeleka
• Ungafundi ukuhamba ngokuzimela nhlobo
• Ungafundi ukuhamba kuze kube sekwephuzile noma ebusheni

Kulezo zingane ezifunda ukuhamba ngesikhathi esijwayelekile, ezinye zigcina lelo khono impilo yazo yonke, kanti ezinye izingane zilahlekelwa yikhono.

Izilindelo zokuphila azifundiswanga kahle, yize ukusinda okungenani kuze kube maphakathi neminyaka yama-20s kungenzeka. Isilinganiso seminyaka yokuphila kwamantombazane singaba maphakathi nama-40s. Ukufa kuvame ukuhlobene nokuquleka, i-aspiration pneumonia, ukungondleki kanye nezingozi.

Shayela umhlinzeki wakho wezempilo uma:

• Yiba nokukhathazeka mayelana nokukhula kwengane yakho
• Qaphela ukuntuleka kokukhula okujwayelekile ngamakhono emoto noma olimi enganeni yakho
• Cabanga ukuthi ingane yakho inenkinga yezempilo edinga ukwelashwa

I-RTT; I-Scoliosis - i-Rett syndrome; Ukukhubazeka kwengqondo - i-Rett syndrome

I-Kwon JM. Izinkinga ze-Neurodegenerative zobuntwana. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ama-eds. Incwadi kaNelson Yezingane. Umhla ka-20. IPhiladelphia, PA: Elsevier; 2016: isahluko 599.

UMink JW. Ukuphazamiseka okuzalwa nakho, ukukhula, kanye neurocutaneous. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-25. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 417.