Adrenoleukodystrophy

Adrenoleukodystrophy yana bayanin rikice-rikice masu alaƙa da yawa waɗanda ke ɓata raunin wasu ƙwayoyi. Wadannan rikice-rikice galibi ana saukar dasu (gado) a cikin dangi.

Adrenoleukodystrophy yawanci ana haihuwa ne daga iyaye zuwa yaro azaman halayen haɗin jini mai nasaba da X. Ya fi shafar maza. Wasu matan da ke dauke da cutar na iya samun sifofin cutar marasa sauki. Yana shafar kusan 1 cikin mutane 20,000 daga kowane jinsi.

Yanayin yana haifar da haɓakar ƙwayoyin mai mai tsayi mai tsayi sosai a cikin tsarin juyayi, gland adrenal, da testesWannan yana dagula ayyukan yau da kullun a cikin waɗannan sassan jikin.

Akwai manyan nau'ikan cuta guda uku:

• Tsarin yara na yara - ya bayyana a tsakiyar ƙuruciya (yana da shekaru 4 zuwa 8)
• Adrenomyelopathy - yana faruwa a cikin maza a cikin 20s ko daga baya a rayuwa
• Rashin aikin gland shine yake aiki (wanda ake kira Addison disease ko Addison-like phenotype) - gland shine yake samarda isasshen kwayoyin halittar steroid.

Symptomsananan alamun cututtukan yara sun haɗa da:

• Canje-canje a sautin tsoka, musamman zafin nama da motsi mara motsi
• Idanun giciye
• Rubutun hannu da ke ƙara muni
• Wahala a makaranta
• Matsalar fahimtar abin da mutane ke faɗi
• Rashin ji
• Rashin hankali
• Damagearin lalacewar tsarin jijiyoyi, gami da koma baya, rage ƙarfin sarrafa mai kyau, da kuma inna
• Kamawa
• Matsalar haɗiya
• Rashin gani ko makanta

Adrenomyelopathy bayyanar cututtuka sun hada da:

• Matsalar sarrafa fitsari
• Zai yuwu kara rauni rauni ko taurin kafa
• Matsaloli tare da saurin tunani da ƙwaƙwalwar gani

Adrenal gland gazawar (Addison type) bayyanar cututtuka sun hada da:

• Coma
• Rage ci
• Colorara launin fata
• Rashin nauyi da ƙwayar tsoka (ɓatawa)
• Raunin jijiyoyi
• Amai

Gwaje-gwajen wannan yanayin sun hada da:

• Matakan jini na dogayen sarkar mai mai yawa da homonin da aka samu daga gland adrenal
• Nazarin Chromosome don neman canje-canje (maye gurbi) a cikin ABCD1 kwayar halitta
• MRI na kai
• Gwajin fata

Adrenal dysfunction zai iya zama tare da steroid (kamar cortisol) idan adrenal gland baya samar da isasshen hormones.

Babu takamaiman magani don adrenoleukodystrophy mai nasaba da X. Rowwayar kasusuwa na iya dakatar da mummunan yanayin.

Taimakawa mai kulawa da kulawa da kyau game da aiki mara kyau na gland shine zai iya taimakawa wajen inganta jin daɗi da ingancin rayuwa.

Wadannan albarkatu na iya ba da ƙarin bayani game da adrenoleukodystrophy:

• Nationalungiyar forasa ta Rare cututtukan Cutar - rarediseases.org/rare-diseases/adrenoleukodystrophy
• NIH / NLM Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Siffar yarinta mai nasaba da adrenoleukodystrophy cuta ce mai ci gaba. Yana haifar da rashin lafiya na tsawon lokaci (yanayin ciyayi) kimanin shekaru 2 bayan bayyanar cututtukan tsarin ci gaba. Yaron na iya rayuwa a wannan yanayin na tsawon shekaru 10 har mutuwa ta auku.

Sauran nau'ikan wannan cuta sun fi sauki.

Wadannan rikitarwa na iya faruwa:

• Rikicin adrenal
• Jihar kayan lambu

Kira mai ba da sabis na kiwon lafiya idan:

• Childanka ya fara bayyanar cututtuka na adrenoleukodystrophy mai nasaba da X
• Yarinyarku tana da adrenoleukodystrophy mai nasaba da X kuma yana ƙara lalacewa

Ana ba da shawara kan al'adun aure don ma'aurata da ke da tarihin iyali game da adrenoleukodystrophy mai nasaba da X. Iyaye mata na 'ya'yan da abin ya shafa suna da damar kashi 85% na kasancewa mai ɗaukar wannan yanayin.

Hakanan ana samun gwajin ciki na adrenoleukodystrophy mai nasaba da X. Ana yin shi ta hanyar gwajin ƙwayoyin halitta daga ƙwayoyin ƙwayoyin cuta ko amniocentesis. Wadannan gwaje-gwajen suna neman ko dai sanannen canjin kwayar halitta ne a cikin iyali ko kuma don matakan acid mai yalwar sarkar mai tsawo.

X-haɗin Adrenoleukodystrophy; Adrenomyeloneuropathy; Yara adrenoleukodystrophy na yara; ALD; Childungiyar Schilder-Addison

• Haihuwar jariri adrenoleukodystrophy

James WD, Berger TG, Elston DM. Kurakurai a cikin metabolism. A cikin: James WD, Berger TG, Elston DM, eds. Cututtukan Andrews na Fata: Clinical Dermatology. 12th ed. Philadelphia, PA: Elsevier; 2016: babi na 26.

Lissauer T, Carroll W. Rashin lafiyar jijiyoyi. A cikin: Lissauer T, Carroll W, eds. Littafin rubutu na likitan yara. 5th ed. Philadelphia, PA: Elsevier; 2018: babi na 29.

Stanley CA, Bennett MJ. Laifi a cikin metabolism na lipids. 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 104.

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