Isifo seHuntington

Isifo i-Huntington (HD) sisifo semfuza apho iiseli zemithambo-luvo kwiindawo ezithile zobuchopho zichitha, okanye zonakala. Esi sifo sidluliselwa kwiintsapho.

I-HD ibangelwa sisiphene semfuza kwi-chromosome 4. Isiphene sibangela ukuba inxenye ye-DNA yenzeke amaxesha ngamaxesha kunokuba bekulindelekile. Esi siphene sibizwa ngokuba kukuphindwa kweCAG. Ngokwesiqhelo, eli candelo le-DNA liphindaphindwe amaxesha ali-10 ukuya kwangama-28. Kodwa kubantu abane-HD, iyaphindaphindwa amaxesha angama-36 ukuya kwayi-120.

Njengoko ufuzo ludluliselwa kwiintsapho, inani lokuphindaphinda lithande ukuba likhulu. Inani elikhulu lokuphindwaphindwa, kokukhona liphezulu ithuba lomntu lokuphuhlisa iimpawu ebudaleni. Ke ngoko, njengoko esi sifo sidluliselwa kwiintsapho, iimpawu zikhula zisencinci kwaye zisebancinci.

Zimbini iindlela ze-HD:

• Ukuqala kwabantu abadala yeyona nto ixhaphakileyo. Abantu abanale fomu bahlala befumana iimpawu phakathi kwe-30s okanye i-40s.
• Ukuqala kwangoko kuchaphazela inani elincinci labantu kwaye kuqala ebuntwaneni okanye kulutsha.

Ukuba omnye wabazali bakho une-HD, unethuba lama-50% lokufumana ufuzo. Ukuba ufumana ufuzo kubazali bakho, ungaludlulisela kubantwana bakho, abaya kuba namathuba angama-50% okufumana uhlobo. Ukuba awufumani mfuza kubazali bakho, awunako ukuyidlulisela kubantwana bakho.

Ukuziphatha okungaqhelekanga kunokwenzeka ngaphambi kokuba iingxaki zokuhamba zikhule, kwaye zinokubandakanya:

• Ukuphazamiseka kwindlela yokuziphatha
• Ukuba nemibono
• Ukucaphuka
• Ukuziphatha
• Ukuphumla okanye ukubetha
• IParanoia
• Ingqondo

Ukuhamba okungaqhelekanga kunye nokungaqhelekanga kubandakanya:

• Ukuhamba kobuso, kubandakanya iigrimace
• Ukujika kwentloko ukutshintsha indawo yamehlo
• Ngokukhawuleza, ngequbuliso, ngamanye amaxesha ukushukuma kwendle kweengalo, imilenze, ubuso, namanye amalungu omzimba
• Ukuhamba kancinci, ukungalawuleki
• Ukuhamba okungazinzanga, kubandakanya "ukurhweba" kunye nohambo olubanzi

Ukuhamba okungaqhelekanga kunokukhokelela ekuweni.

Isifo sengqondo esixhalabisayo esiya sisiba mandundu, kubandakanya:

• Ukudideka okanye ukudideka
• Ukuphulukana nomgwebo
• Ukuphulukana nenkumbulo
• Ubuntu buyatshintsha
• Utshintsho kwintetho, njengokuma kancinci xa uthetha

Iimpawu ezongezelelweyo ezinokuthi zidibaniswe nesi sifo zibandakanya:

• Ixhala, uxinzelelo kunye noxinzelelo
• Kunzima ukugwinya
• Ukonakala kwentetho

Iimpawu kubantwana:

• Ubungqongqo
• Ukuhamba kancinci
• Ukungcangcazela

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye angabuza malunga nembali yosapho yesigulana kunye neempawu. Uvavanyo lwenkqubo yemithambo-luvo luyakwenziwa.

Olunye uvavanyo olunokubonisa iimpawu zesifo sikaHuntington lubandakanya:

• Ukuvavanywa kwengqondo
• Intloko ye-CT okanye i-MRI scan
• I-PET (isotope) yokuskena kwengqondo

Ukuvavanywa kwemfuza kuyafumaneka ukumisela ukuba umntu uphethe uhlobo lwesifo sikaHuntington.

Akukho lunyango lwe-HD. Ayikho indlela eyaziwayo yokunqanda esi sifo ukuba siqhubeke sisiba mandundu. Injongo yonyango kukucotha iimpawu kunye nokunceda umntu asebenze ixesha elide kangangoko kunokwenzeka.

Amayeza anokumiselwa, kuxhomekeke kwiimpawu.

• I-Dopamine blockers inokunceda ukunciphisa indlela yokuziphatha engaqhelekanga kunye nentshukumo.
• Iziyobisi ezinje nge-amantadine kunye ne-tetrabenazine zisetyenziselwa ukuzama ukulawula iintshukumo ezongezelelweyo.

Uxinzelelo kunye nokuzibulala kuqhelekile kubantu abane-HD. Kubalulekile ukuba abanonopheli bajonge iimpawu kwaye bafune uncedo lwezonyango kumntu ngokukhawuleza.

Njengokuba isifo siqhubeka, umntu uya kufuna uncedo kunye nokujongwa, kwaye ekugqibeleni angafuna ukhathalelo lweeyure ezingama-24.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya kwi-HD:

• Umbutho wezifo waseHuntington waseMelika - hdsa.org
• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/huntington-disease

I-HD ibangela ukukhubazeka okuba mandundu ngokuhamba kwexesha. Abantu abaneHD badla ngokusweleka kwisithuba seminyaka eli-15 ukuya kwengama-20. Unobangela ukufa rhoqo usulelo. Ukuzibulala kuqhelekile.

Kubalulekile ukuba uqaphele ukuba i-HD ichaphazela abantu ngokwahlukileyo. Inani eliphindwayo le-CAG linokumisela ubungqongqo beempawu. Abantu abaphindayo abambalwa banokuba nokuhamba okungaqhelekanga kamva ebomini kunye nokuqhubela phambili kwesifo. Abo banenani elikhulu lokuphindaphinda banokuchaphazeleka kakhulu besebancinci.

Fowunela umboneleli wakho ukuba wena okanye ilungu losapho liphuhlisa iimpawu ze-HD.

Ukucebisa ngemfuza kuyacetyiswa ukuba kukho imbali yosapho ye-HD. Iingcali zikwacebisa ngokucebisa ngemfuza kwizibini ezinembali yosapho yesi sifo abacinga ukuba nabantwana.

Huntington chorea

UCaron NS, uWright GEB, uHayden MR. Isifo seHuntington. Ku: UAdam MP, uArdinger HH, uPagon RA, et al, ii-eds. Uphononongo lweGene. Seattle, WA: IYunivesithi yaseWashington. www.ncbi.nlm.nih.gov/books/NBK1305. Ukuhlaziywa ngoJulayi 5, 2018. Ifikeleleke ngoMeyi 30, 2019.

Isifo sikaJankovic J. Parkinson kunye nezinye iingxaki zokuhamba. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 96.