I-dysautonomia yomndeni

I-Familial dysautonomia (FD) yisifo esizuzwe njengefa esithinta izinzwa emzimbeni wonke.

I-FD idluliselwa emindenini (ezuzwe njengefa). Umuntu kufanele athole ikhophi yofuzo olungalungile kumzali ngamunye ukuze athuthukise lesi simo.

I-FD yenzeka kaningi kubantu bozalo lwamaJuda aseMpumalanga Yurophu (ama-Ashkenazi amaJuda). Kubangelwa ukuguqulwa (ukuguqulwa) kwesakhi sofuzo. Kuyinto engavamile emphakathini jikelele.

I-FD ithinta izinzwa ohlelweni lwezinzwa ezizimele (lokuzibandakanya). Lezi zinzwa zilawula imisebenzi yansuku zonke yomzimba efana nomfutho wegazi, ukushaya kwenhliziyo, ukujuluka, ukuphuma kwamathumbu nesinye, ukugaya, nezinzwa.

Izimpawu ze-FD zikhona lapho kuzalwa futhi zingakhula zimbi ngokuhamba kwesikhathi. Izimpawu ziyahlukahluka, futhi zingafaka:

• Izinkinga zokugwinya ezinganeni, okuholela ekuphefumuleni i-pneumonia noma ukukhula kabi
• Iziphonso zokubamba umoya, okuholela ekutheni uquleke
• Ukuqunjelwa noma uhudo
• Ukungakwazi ukuzwa ubuhlungu kanye nezinguquko ekushiseni (kungaholela ekulimaleni)
• Amehlo omile nokuntuleka kwezinyembezi lapho ukhala
• Ukudidiyela okungafanele nokuhamba okungazinzile
• Ukuquleka
• Indawo ebushelelezi engajwayelekile, ephaphathekile yolimi kanye nokushoda kokunambitheka kwehle futhi kwehle ngomqondo wokunambitha

Ngemuva kweminyaka emithathu, izingane eziningi ziba nezinkinga zokuzimela. Lezi iziqephu zokuhlanza ngomfutho wegazi ophakeme kakhulu, inhliziyo egijimayo, umkhuhlane nokujuluka.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba ukuze afune:

• Ama-reflexes we-tendon angekho noma anciphile
• Ukungabi nempendulo ngemuva kokuthola umjovo we-histamine (imvamisa ubomvu nokuvuvukala kuzovela)
• Ukuntuleka kwezinyembezi ngokukhala
• Ithoni yemisipha ephansi, imvamisa ezinganeni
• Ukugoba okunzima komgogodla (scoliosis)
• Abafundi abancane ngemuva kokuthola amaconsi athile wamehlo

Ukuhlolwa kwegazi kuyatholakala ukuhlola ukuguquka kwezakhi zofuzo okubangela i-FD.

I-FD ayelapheki. Ukwelashwa kuhlose ukuphatha izimpawu futhi kungafaka:

• Imithi yokusiza ukuvikela ukuquleka
• Ukondla endaweni emile nokunikeza ifomula ehlanganisiwe ukuvimbela i-reflux ye-gastroesophageal (isisu se-asidi nokudla okubuyayo, okubizwa nangokuthi yi-GERD)
• Izindlela zokuvimbela umfutho wegazi ophansi lapho umile, njengokukhuphuka kokudla uketshezi, usawoti kanye ne-caffeine, nokugqoka amasokisi amade anwebeka
• Imithi yokulawula ukuhlanza
• Imithi yokuvikela amehlo omile
• Ukwelashwa ngokomzimba kwesifuba
• Izinyathelo zokuvikela ukulimala
• Ukuhlinzeka ngokudla okwanele kanye noketshezi
• Ukuhlinzwa noma ukuhlanganiswa komgogodla ukwelapha izinkinga zomgogodla
• Ukwelapha i-aspiration pneumonia

Lezi zinhlangano zinganikeza ukwesekwa kanye neminye imininingwane:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org
• Isethenjwa sasekhaya seNLM Genetics - ghr.nlm.nih.gov/condition/familial-dysautonomia

Intuthuko yokuxilongwa nokwelashwa ikhulisa izinga lokusinda. Cishe uhhafu wezingane ezizalwa zine-FD zizophila zineminyaka engama-30.

Shayela umhlinzeki wakho uma izimpawu zishintsha noma ziba zimbi kakhulu. Umeluleki wezofuzo angakusiza ekufundiseni ngalesi simo futhi akuqondise ekusekeleni amaqembu asendaweni yangakini.

Ukuhlolwa kwe-Genetic DNA kunembile kakhulu ku-FD. Ingasetshenziselwa ukuxilonga abantu abanesimo noma labo abaphethe isakhi sofuzo. Ingasetshenziselwa nokuxilongwa ngaphambi kokubeletha.

Abantu besizinda samaJuda aseMpumalanga Yurophu nemindeni enomlando we-FD bangafisa ukufuna ukwelulekwa ngezakhi zofuzo uma becabanga ngokuba nezingane.

I-Riley-Day syndrome; FD; I-Hereditary sensory and autonomic neuropathy - uhlobo III (HSAN III); Izinkinga ze-Autonomic - i-dysautonomia yomndeni

• Ama-Chromosomes ne-DNA

I-Katirji B. Ukuphazamiseka kwemizwa yangaphakathi. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 107.

I-Sarnat HB. Ama-neuropathies wokuzimela. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ama-eds. Incwadi kaNelson Yezingane. Umhla ka-20. IPhiladelphia, PA: Elsevier; 2016: isahluko 615.

U-Wapner RJ, Dugoff L. Ukuxilongwa ngaphambi kokubeletha kwezifo zokuzalwa. Ku: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, abahleli. ICreasy neResnik's Maternal-Fetal Medicine: Izimiso kanye Nokuzijwayeza. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2019: isahluko 32.