Isifo seCanavan

Isifo seCanavan yimeko echaphazela indlela umzimba owaphuka ngayo kwaye usebenzise iaspartic acid.

Isifo seCanavan sidluliselwe phantsi (sizuze ilifa) kwiintsapho. Kuqheleke kakhulu phakathi kwama-Ashkenazi amaJuda kunabantu ngokubanzi.

Ukungabikho kwe-enzyme aspartoacylase kukhokelela ekwakhiweni kwezinto ezibizwa ngokuba yi-N-acetylaspartic acid kwingqondo. Oku kubangela ukuba umba omhlophe wobuchopho uphuke.

Zimbini iintlobo zesifo:

• Neonatal (usana) -Le yeyona fomu ixhaphakileyo. Iimpawu zinzima. Iintsana zibonakala ziqhelekile kwiinyanga zokuqala ezimbalwa emva kokuzalwa. Ngeenyanga ezi-3 ukuya kwezi-5, baneengxaki zophuhliso, ezinje ngezo zikhankanywe ngezantsi phantsi kwecandelo leMpawu kweli nqaku.
• Ulutsha - Le yifom eqhelekileyo. Iimpawu zincinci. Iingxaki zophuhliso zincinci kakhulu kunezo zefom yokuzalwa. Ngamanye amaxesha, iimpawu zincinci kangangokuba ziye zingafunyanwa njengesifo saseCanavan.

Iimpawu zihlala ziqala kunyaka wokuqala wobomi. Abazali bahlala beyibona xa umntwana wabo engafikeleli kumanqanaba athile ophuhliso, kubandakanya nolawulo lwentloko.

Iimpawu zibandakanya:

• Ukuma ngokungaqhelekanga ngeengalo eziguqukayo kunye nemilenze ethe tye
• Izinto zokutya zibuyele empumlweni
• Iingxaki zokondla
• Ukwandisa ubukhulu bentloko
• Ukucaphuka
• Ithoni yemisipha engalunganga, ngakumbi izihlunu zentamo
• Ukunqongophala kolawulo lwentloko xa usana lutsalwa ukusuka ekuxokeni ukuya kwindawo yokuhlala
• Ukujonga kakubi, okanye ukungaboni
• Reflux ngokugabha
• Ukuxhuzula
• Ukukhubazeka okukhulu kwengqondo
• Ukuginya ubunzima

Uvavanyo lomzimba lunokubonisa:

• Ingqondo ebaxekileyo
• Ukuqina ngokudibeneyo
• Ukuphulukana nethishu kwimithambo-luvo yamehlo

Uvavanyo lwale meko lubandakanya:

• Ikhemesti yegazi
• I-CSF chemistry
• Uvavanyo lwe-Genetic yokutshintsha kwemfuza ye-aspartoacylase
• Ukuskena iNtloko ye-CT
• Iskena seNtloko seMRI
• I-Urine okanye i-chemistry yegazi ye-aspartic acid ephezulu
• Uhlalutyo lwe-DNA
  

Akukho lunyango oluthile lukhona. Unonophelo oluxhasayo lubaluleke kakhulu ekunciphiseni iimpawu zesi sifo. I-lithium kunye nonyango lwemfuza ziyafundwa.

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya malunga nesifo seCanavan:

• Umbutho weSizwe weZinto eziNqabileyo- rarediseases.org/rare-diseases/canavan-disease
• Umbutho weSizwe weTay-Sachs kunye noManyano lweZifo eziManyeneyo- www.ntsad.org/index.php/the-diseases/canavan

Ngesifo seCanavan, inkqubo ye-nervous system iyaqhekeka. Abantu banokukhubazeka.

Abo banefom ye-neonatal bahlala bengahlali ngaphaya kobuntwana. Abanye abantwana banokuhlala kwishumi elivisayo. Abo banefom yolutsha bahlala ubomi obuqhelekileyo.

Esi sifo asibangeli kukhubazeka kakhulu okufana:

• Ubumfama
• Ukungakwazi ukuhamba
• Ukukhubazeka kwengqondo

Fowunela umboneleli wakho wezempilo ukuba umntwana wakho unazo naziphi na iimpawu zesifo saseCanavan.

Ukucebisa ngemfuza kuyacetyiswa kubantu abafuna ukuba nabantwana kwaye banembali yosapho yesifo saseCanavan. Ingcebiso kufuneka ithathelwe ingqalelo ukuba bobabini abazali bayinzalelwane yama-Ashkenazi. Kweli qela, uvavanyo lwe-DNA lunokuhlala luxelela ukuba abazali ngabaphetheyo.

Ukuxilongwa kunokwenziwa ngaphambi kokuba umntwana azalwe (ukuxilongwa kwangaphambi kokubeleka) ngokuvavanya i-amniotic fluid, ulwelo olujikeleze isibeleko.

Ukonakala kwesiponji kwengqondo; Ukusilela kwe-Aspartoacylase; Isifo saseCanavan-van Bogaert

Elitt CM, Volpe JJ. Ukuphazamiseka okwandayo kwimveku. Ku: Volpe JJ, Inder TE, Darras BT, et al, ii-eds. I-Volpe's Neurology yoSana olusandul 'ukuzalwa. Umhla wesi-6. IPhiladelphia, PA: Elsevier; I-2018: isahluko 29.

IMatalon RK, iTrapasso JM. Iimpazamo kwimetabolism yee-amino acid: N-acetylaspartic acid (isifo saseCanavan). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds.Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.15.

IVanderver A, ingcuka NI. Ukuphazamiseka kwemfuza kunye ne-metabolic yomcimbi omhlophe. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, ii-eds. I-Swaiman's Pediatric Neurology: Imigaqo kunye nokuziqhelanisa. Umhla wesi-6. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 99.