Yemhuri dysautonomia

Yemhuri dysautonomia (FD) chirwere chakagara nhaka chinokanganisa tsinga dzese mumuviri.

FD inopfuudzwa kuburikidza nemhuri (nhaka). Munhu anofanirwa kugara nhaka kopi yeakaremara gene kubva kumubereki wega wega kuti agadzirise mamiriro.

FD inoitika kazhinji muvanhu veEastern Europe madzitateguru echiJuda (Ashkenazi maJuda). Izvo zvinokonzerwa neshanduko (mutation) kune geni. Kashoma muhuwandu hwevanhu.

FD inokanganisa tsinga mune yekuzvimiririra (isina basa) yetsinga system. Tsinga idzi dzinobata mashandiro ezuva nezuva emuviri akadai seBP, kurova kwemoyo, kudikitira, ura uye dundira kubvisa, kugaya uye pfungwa.

Zviratidzo zveFD zviripo pakuzvarwa uye zvinogona kukura zvakanyanya nekufamba kwenguva. Zviratidzo zvinosiyana, uye zvinogona kusanganisira:

• Kumedza matambudziko muvacheche, zvichikonzera kushushikana nemabayo kana kukura kwakashata
• Kufema-kubata zvitsinga, zvichikonzera kufenda
• Kuzvimbirwa kana kuita manyoka
• Kusakwanisa kunzwa kurwadziwa uye shanduko mukushisa (kunogona kutungamira kukuvara)
• Kuoma maziso uye kushaya misodzi kana uchichema
• Kufambidzana kwakashata uye kufamba kwakadzikama
• Kufenda
• Risinganzwisisike rakatsetseka, rakachenuruka rurimi pamusoro uye kushomeka kwekuravira mabhudzi uye kuderera nepfungwa yekuravira

Mushure memakore matatu ekuberekwa, vana vazhinji vanova nematambudziko ekuzvimiririra. Izvi zvikamu zvekurutsa neakanyanya BP, kumhanya pamoyo, kupisa muviri uye kudikitira.

Anopa hutano anoita bvunzo dzepanyama kutsvaga:

• Kusipo kana kuderera kwakadzika kwetendon reflexes
• Kusava nemhinduro mushure mekugamuchira jekiseni re histamine (kazhinji kutsvuka uye kuzvimba kwaizoitika)
• Kushaya misodzi nekuchema
• Yakaderera mhasuru toni, kazhinji mumucheche
• Yakakombama curve yemuzongoza (scoliosis)
• Tiny vadzidzi mushure mekugamuchira mamwe madonhwe eziso

Kuongororwa kweropa kunowanikwa kutarisa kweiyo geni mutation inokonzeresa FD.

FD haigone kurapwa. Kurapa kunoitirwa kugadzirisa zviratidzo uye kunogona kusanganisira:

• Mishonga inobatsira kudzivirira kubatwa
• Kudya munzvimbo yakatwasuka uye kupa fomura yakarongedzwa yekudzivirira gastroesophageal Reflux (mudumbu asidi uye chikafu chinodzoka kumusoro, chinonzi GERD)
• Matanho ekudzivirira kudzikira kweropa kana wakamira, senge kuwedzera kuwanda kwemvura, munyu, uye caffeine, uye kupfeka elastic masokisi
• Mishonga yekudzivirira kurutsa
• Mishonga yekudzivirira maziso akaoma
• Kurapa kwepanyama kwechifuva
• Matanho ekudzivirira kubva mukukuvara
• Kupa hutano hwakakwana uye zvinwiwa
• Kuvhiya kana musana musana kurapa matambudziko emuzongoza
• Kurapa aspiration pneumonia

Aya masangano anogona kupa rutsigiro uye rumwe ruzivo:

• National Sangano reRare Dambudziko - rarediseases.org
• NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/familial-dysautonomia

Kufambira mberi mukuongororwa uye kurapwa kuri kuwedzera mwero wekupona. Inenge hafu yevana vanozvarwa vaine FD vachararama kusvika pamakore makumi matatu.

Fonera mupiki wako kana zviratidzo zvachinja kana kuwedzera kuipa. Anopa chipangamazano anogona kubatsira kukudzidzisa nezve mamiriro acho uye nekukutungamira kunotsigira mapoka emunharaunda yako.

Genetic DNA kuyedza kwakanyatsonaka kune FD. Inogona kushandiswa kuongorora vanhu vane chirwere kana avo vanotakura geni. Inogona zvakare kushandiswa kuongororwa kwepabonde.

Vanhu veEastern Europe vekumashure vechiJudha uye mhuri dzine nhoroondo yeFD vangangoda kutsvaga kurairirwa kwemajini kana ivo vachifunga kuve nevana.

Riley-Day chirwere; FD; Hereditary sensory uye autonomic neuropathy - mhando III (HSAN III); Autonomic matambudziko - emhuri dysautonomia

• Chromosomes uye DNA

Katirji B. Kukanganisika kwemitsipa yekunze. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits. 107.

Sarnat HB. Autonomic neuropathies. Mune: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Chinyorwa chePediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016: chitsama 615.

Wapner RJ, Dugoff L. Prenatal kuongororwa kwehutano hwepamuviri. Mu: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Sirivha RM, eds. Creasy uye Resnik's Maternal-Fetal Mushonga: Misimboti uye Dzidzira. 8th ed. Philadelphia, PA: Elsevier; 2019: chitsuwa 32.