Canavan cuta

Canavan cuta cuta ce da ke shafar yadda jiki ke lalacewa da amfani da aspartic acid.

Canavan ya kamu da cuta (ya gaji) ta wurin dangi. An fi yawaita tsakanin yawancin yahudawan Ashkenazi fiye da na yawancin jama'a.

Rashin enzyme aspartoacylase yana haifar da tarin abubuwa da ake kira N-acetylaspartic acid a cikin kwakwalwa. Wannan yana haifar da matsalar farin fata na kwakwalwa.

Akwai nau'i biyu na cutar:

• Neonatal (jariri) - Wannan shine sifa mafi yawa. Kwayar cutar tana da tsanani. Jarirai suna ganin kamar al'ada ce 'yan watanni bayan haihuwa. Zuwa watanni 3 zuwa 5, suna da matsalolin ci gaba, kamar waɗanda aka ambata a ƙasa ƙarƙashin ɓangaren Alamun wannan labarin.
• Matasa - Wannan sigar ƙaramar hanya ce. Kwayar cutar ba ta da sauƙi. Matsalolin ci gaba ba su da ƙarfi sosai kamar waɗanda suke cikin sabon tsarin haihuwa. A wasu lokuta, alamomin na da sauki sosai har ba a gano su kamar cutar Canavan.

Kwayar cutar galibi tana farawa ne a shekarar farko ta rayuwa. Iyaye suna lura da hakan lokacin da ɗansu bai kai wasu manyan ci gaba ba, gami da sarrafa kai.

Kwayar cutar sun hada da:

• Matsayi mara kyau tare da hannaye masu lanƙwasa da ƙafafu madaidaiciya
• Kayan abinci yana komawa cikin hanci
• Matsalar ciyarwa
• Sizeara girman kai
• Rashin fushi
• Sautin tsoka, musamman na tsokoki na wuya
• Rashin ikon sarrafa kai lokacin da aka ja jariri daga kwance zuwa wurin zama
• Matsayi mara kyau na gani, ko makanta
• Reflux tare da amai
• Kamawa
• Mai tsananin nakasa ilimi
• Matsalar haɗiya

Gwajin jiki na iya nuna:

• Exara karin haske
• Iffarfin haɗin gwiwa
• Rashin nama a jijiyar ido na ido

Gwaje-gwajen wannan yanayin sun hada da:

• Jikin sunadarai
• CSF sunadarai
• Gwajin kwayar halitta don maye gurbi na maye gurbi
• Shugaban CT scan
• Shugaban MRI scan
• Fitsari ko sunadarai na jini don haɓakar aspartic acid
• Nazarin DNA
  

Babu takamaiman magani da ake samu. Tallafin tallafi yana da matukar mahimmanci don sauƙaƙe alamomin cutar. Ana nazarin lithium da maganin jinsi.

Wadannan albarkatu na iya ba da ƙarin bayani game da cutar Canavan:

• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/canavan-disease
• Tayungiyar Ta'addancin Taɓayen Tayasa da liedungiyar Cututtuka - www.ntsad.org/index.php/the-diseases/canavan

Tare da cutar Canavan, tsarin juyayi na tsakiya ya lalace. Mutane na iya zama nakasa.

Waɗanda ke da tsarin haihuwa ba sa rayuwa fiye da ƙuruciya. Wasu yara na iya zama cikin samartaka. Wadanda ke da tsarin samartaka galibi suna rayuwarsu ta yau da kullun.

Wannan cuta ba ta haifar da nakasa kamar:

• Makaho
• Rashin iya tafiya
• Rashin hankali

Kira mai ba da sabis na kiwon lafiya idan ɗanka yana da alamun alamun cutar Canavan.

An ba da shawarar yin shawarwari game da kwayar halitta ga mutanen da suke so su haifi yara kuma suna da tarihin iyali na cutar Canavan. Ya kamata a yi la’akari da nasiha idan iyayen biyu sun fito ne daga asalin Ashkenazi na yahudawa. Don wannan rukunin, gwajin DNA na iya kusan koyaushe idan iyayen masu ɗauka ne.

Ana iya yin ganewar asali kafin a haifi jariri (ganewar ciki kafin a fara haihuwa) ta hanyar gwada ruwan amniotic, ruwan da ke kewaye da mahaifar.

Rushewar ƙwaƙwalwar ƙwaƙwalwa; Aspartoacylase rashi; Canavan - van Bogaert cutar

Elitt CM, Volpe JJ. Rashin nakasa na jariri. A cikin: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology na Jariri. Na 6 ed. Philadelphia, PA: Elsevier; 2018: babi na 29.

Matalon RK, Trapasso JM. Laifi a cikin metabolism na amino acid: N-acetylaspartic acid (Canavan cuta). A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds.Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 103.15.

Vanderver A, Wolf NI. Kwayar halittar jiki da rikicewar rayuwa cikin fararen al'amari. A cikin: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Neurology na Yara: Ka'idoji da Ayyuka. Na 6 ed. Philadelphia, PA: Elsevier; 2017: babi na 99.