Dysautonomia yodziwika bwino

Familial dysautonomia (FD) ndimatenda obadwa nawo omwe amakhudza mitsempha m'thupi lonse.

FD imadutsa kudzera m'mabanja (obadwa nawo). Munthu ayenera kulandira cholowa cha cholakwika kuchokera kwa kholo lililonse kuti akwaniritse vutoli.

FD imachitika nthawi zambiri mwa anthu ochokera ku Eastern Europe achiyuda achiyuda (Ashkenazi Ayuda). Zimayambitsidwa ndi kusintha (kusintha) kukhala jini. Ndi osowa mwa anthu wamba.

FD imakhudza mitsempha mu dongosolo lodziyimira palokha (losachita kufuna). Mitsempha imeneyi imayendetsa ntchito za thupi tsiku ndi tsiku monga kuthamanga kwa magazi, kugunda kwa mtima, thukuta, matumbo ndi chikhodzodzo kutulutsa, chimbudzi, ndi mphamvu.

Zizindikiro za FD zimakhalapo pobadwa ndipo zimatha kukulirakulira pakapita nthawi. Zizindikiro zimasiyanasiyana, ndipo zimatha kuphatikiza:

• Kumeza mavuto mwa makanda, komwe kumayambitsa chibayo kapena chibayo
• Zolemba zopumira, zomwe zimayambitsa kukomoka
• Kudzimbidwa kapena kutsegula m'mimba
• Kulephera kumva kupweteka komanso kusintha kwa kutentha (kumatha kubweretsa kuvulala)
• Maso owuma komanso kusowa misozi polira
• Kusagwirizana bwino komanso kuyenda kosakhazikika
• Kugwidwa
• Lilime losalala bwino, lotumbululuka pamwamba komanso kusowa kwamankhwala ndikuchepa kwakumva kukoma

Pambuyo pazaka zitatu, ana ambiri amakhala ndi zovuta zodziyimira pawokha. Izi ndi magawo osanza omwe ali ndi kuthamanga kwambiri kwa magazi, kuthamanga kwa mtima, malungo, ndi thukuta.

Wopereka chithandizo chamankhwala ayesa mayeso kuti aone:

• Kulibe kapena kuchepa kwamaganizidwe akuya a tendon
• Kusayankhidwa mukalandira jakisoni wa histamine (kawirikawiri kufiira ndi kutupa kumachitika)
• Kusowa misozi ndikulira
• Kutsika kwa minofu, nthawi zambiri m'makanda
• Kuthamanga kwakukulu kwa msana (scoliosis)
• Ana ang'onoang'ono atalandira madontho ena amaso

Kuyezetsa magazi kulipo kuti muwone momwe majini amathandizira FD.

FD sichitha. Chithandizochi chimayesetsa kuthana ndi zizindikilozo ndipo mwina ndi izi:

• Mankhwala othandizira kupewa khunyu
• Kudyetsa pamalo owongoka ndikupereka mawonekedwe olembedwa kuti muteteze Reflux ya m'mimba (asidi m'mimba ndi chakudya kuti chibwererenso, chotchedwanso GERD)
• Njira zopewera kuthamanga kwa magazi poyimirira, monga kuchuluka kwamadzi, mchere, ndi tiyi kapena khofi, komanso kuvala masokosi otanuka
• Mankhwala oletsa kusanza
• Mankhwala oteteza maso owuma
• Kuchiza thupi pachifuwa
• Njira zotetezera kuvulala
• Kupereka chakudya chokwanira ndi madzi
• Opaleshoni kapena msana kusakanikirana kuti athetse mavuto amsana
• Kuchiza chifuwa cha chibayo

Mabungwewa atha kuthandizira ndi zambiri:

• National Organisation for Rare Disways - rarediseases.org
• Buku Lofotokozera za NLM Genetics - ghr.nlm.nih.gov/condition/familial-dysautonomia

Kupita patsogolo pakuzindikira komanso kuchiza matenda kukuwonjezera kuchuluka kwakupulumuka. Pafupifupi theka la ana obadwa ndi FD adzakhala ndi zaka 30.

Itanani omwe akukuthandizani ngati zizindikiro zisintha kapena zikuipiraipira. Wothandizira za majini atha kukuthandizani za vutoli ndikukuwuzani kuti mukathandizire magulu am'deralo.

Kuyesedwa kwa majini a DNA ndikolondola kwa FD. Itha kugwiritsidwa ntchito pozindikira anthu omwe ali ndi vutoli kapena omwe ali ndi jini. Itha kugwiritsidwanso ntchito pozindikira matenda asanakwane.

Anthu aku Chiyuda chakum'mawa kwa Europe komanso mabanja omwe ali ndi mbiri ya FD atha kufunafuna upangiri wa majini ngati akuganiza zokhala ndi ana.

Matenda a Riley-Day; FD; Matenda obadwa nawo komanso odziyimira pawokha - mtundu wachitatu (HSAN III); Mavuto a Autonomic - dysautonomia yabanja

• Chromosomes ndi DNA

Katirji B. Kusokonezeka kwamitsempha yotumphukira. Mu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, olemba. Neurology ya Bradley mu Kuchita Zachipatala. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2016: mutu 107.

Sarnat HB. Autonomic neuropathies. Mu: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, olemba. Nelson Textbook of Pediatrics. Wolemba 20th. Philadelphia, PA: Elsevier; 2016: chap 615.

Wapner RJ, Dugoff L. Kuzindikira matenda asanakwane obadwa nawo. Mu: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, olemba. Creasy ndi Resnik's Maternal-Fetal Medicine: Mfundo ndi Kuchita. 8th ed. Philadelphia, PA: Elsevier; 2019: mutu 32.