Isifo seCanavan

Isifo seCanavan yisimo esithinta indlela umzimba ophuka ngayo futhi sisebenzise i-aspartic acid.

Isifo seCanavan sidluliselwa phansi (sizuze njengefa) ngemindeni. Kuvame kakhulu phakathi kwamaJuda ase-Ashkenazi kunabantu abaningi.

Ukuntuleka kwe-enzyme aspartoacylase kuholela ekwakhiweni kwento ebizwa nge-N-acetylaspartic acid ebuchosheni. Lokhu kudala ukuthi indaba emhlophe yobuchopho idilike.

Kunezinhlobo ezimbili zesifo:

• I-Neonatal (usana) - Le ifomu ejwayelekile kakhulu. Izimpawu zinzima. Izingane zibonakala zivamile ezinyangeni ezimbalwa zokuqala emva kokuzalwa. Ngezinyanga ezi-3 kuye kwezi-5, banezinkinga zokukhula, njengalezo ezishiwo ngezansi ngaphansi kwesigaba seZimpawu zalesi sihloko.
• Ubusha - Leli yifomu elingajwayelekile kakhulu. Izimpawu zimnene. Izinkinga zentuthuko azinzima kangako kunalezo zefomu lokubeletha. Kwezinye izimo, izimpawu zimnene kangangoba azitholakali njengezifo zaseCanavan.

Izimpawu zivame ukuqala ngonyaka wokuqala wokuphila. Abazali bavame ukukubona lapho ingane yabo ingafinyeleli kumanqamu athile okukhula, kufaka phakathi ukulawulwa kwekhanda.

Izimpawu zifaka:

• Ukuma okungavamile ngezingalo eziguqukayo nemilenze eqondile
• Izinto zokudla zigelezela emuva emakhaleni
• Izinkinga zokondla
• Ukwandisa usayizi wekhanda
• Ukuthukuthela
• Ithoni engeyinhle yemisipha, ikakhulukazi yemisipha yentamo
• Ukuntuleka kokulawulwa kwekhanda lapho ingane idonswa kusuka ekuqambeni kuya endaweni yokuhlala
• Ukulandelela okungaboni kahle, noma ubumpumputhe
• Reflux ngokuhlanza
• Ukuquleka
• Ukukhubazeka okukhulu kwengqondo
• Ukugwinya ubunzima

Ukuhlolwa ngokomzimba kungakhombisa:

• Imicabango eyeqisayo
• Ukuqina okuhlangene
• Ukulahleka kwezicubu emthanjeni we-optic weso

Ukuhlolwa kwalesi simo kufaka:

• Amakhemikhali egazi
• I-CSF chemistry
• Ukuhlolwa kofuzo kokuguqulwa kofuzo kwe-aspartoacylase
• Iskena sekhanda le-CT
• Iskena sekhanda le-MRI
• I-urine noma i-chemistry yegazi ye-aspartic acid ephakeme
• Ukuhlaziywa kwe-DNA
  

Akukho ukwelashwa okuthile okutholakalayo. Ukunakekelwa kokusekelwa kubaluleke kakhulu ukunciphisa izimpawu zesifo. Kucwaningwa ngeLithium nokwelashwa kofuzo.

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi ngesifo seCanavan:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/canavan-disease
• Inhlangano Kazwelonke Yezifo Ze-Tay-Sachs & Allied - www.ntsad.org/index.php/the-diseases/canavan

Ngesifo seCanavan, uhlelo oluphakathi lwezinzwa luyonakala. Abantu kungenzeka bakhubazeke.

Labo abanefomu le-neonatal imvamisa abaphila ngaphezu kobuntwana. Ezinye izingane zingahlala ebusheni bazo. Labo abanefomu lezingane ngokuvamile baphila impilo ejwayelekile.

Lesi sifo futhi asibangeli ukukhubazeka okukhulu okufana nalokhu:

• Ubumpumputhe
• Ukungakwazi ukuhamba
• Ukukhubazeka kwengqondo

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho inezimpawu zesifo saseCanavan.

Ukwelulekwa ngofuzo kunconyelwa abantu abafuna ukuba nezingane futhi babe nomlando womndeni wesifo saseCanavan. Ukwelulekwa kufanele kubhekwe uma ngabe bobabili abazali bangabokudabuka e-Ashkenazi Jewish. Kuleli qembu, ukuhlolwa kwe-DNA kungasho njalo ukuthi abazali bangabathwali yini.

Ukuxilongwa kungenziwa ngaphambi kokuzalwa kwengane (ukuxilongwa kokubeletha) ngokuhlola i-amniotic fluid, uketshezi oluzungeze isibeletho.

Ukwehla kwesiponji kobuchopho; Ukushoda kwe-Aspartoacylase; I-Canavan - isifo se-van Bogaert

U-Elitt CM, uVolpe JJ. Ukuphazamiseka okhulayo kwengane esanda kuzalwa. Ku: Volpe JJ, Inder TE, Darras BT, et al, ama-eds. IVolpe's Neurology Yentsana. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2018: isahluko 29.

IMatalon RK, iTrapasso JM. Amaphutha ku-metabolism yama-amino acid: i-N-acetylaspartic acid (isifo seCanavan). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds.Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.15.

IVanderver A, impisi NI. Izinkinga zofuzo nezomzimba zendaba emhlophe. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, abahleli. I-Swaiman's Pediatric Neurology: Izimiso kanye Nokuzijwayeza. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2017: isahluko 99.