Mwana wako anononoka here kupfuura vamwe vana pakugara, kutaura, kana kufamba? Zvakajairika kuti vabereki vanzwe kunetseka uye kunetseka pavanenge vachiona zvinhu zvakadai. Asi hakusi kunonoka kwese kuri dambudziko guru. Zvisinei, zvakakosha kuziva nezvemamwe mamiriro asingawanzoitika anokonzerwa nezvinhu zvemajini. Semuenzaniso, Koolen-de Vries Syndrome chirwere chatisinganzwe zuva nezuva, asi chakakosha kuziva nezvacho. Ngatitaurei nezvazvo zviri nyore, nenzira yaunogona kunzwisisa.
Chii chinonzi Koolen-de Vries Syndrome?
Zvichitaurwa zviri nyore, Kuhlman-de Vries Syndrome (KdVS) chirwere chisingawanzoitika mumajini. Chine chekuita nemachromosomes ari mumuviri wedu. Kutaura chokwadi, chinokonzerwa nekuchinja kudiki kwechromosome yedu nhamba 17. Chirwere ichi chinogona kukonzera kunonoka kukura , kuremara kwepfungwa, uye zvimwe zvinhu zvechiso .
Unogona kutanga kuona dambudziko iri kana mwana wako agara ega gare gare kupfuura vamwe vana vezera rake, otaura mazwi ake ekutanga gare gare, kana kuti otora nguva yakareba kuti atange kufamba. Rimwe zita redambudziko iri ndi `17q21.31 microdeletion syndrome.` Kunyange zvazvo zita racho ringanzwika serakaoma, ngatinyatsoongororai zvarinoreva.
Chinhu chakakosha ndechekuti kunyange zvazvo zviratidzo izvi zvichisiyana kubva pamwana kuenda kumwana, chinhu chinowanzoitika pachirwere ichi kuti vana ava vanowanzova vanofara uye vane hushamwari . Izvozvo zvakanaka chaizvo. Zvisinei, vachada rubatsiro rwechiremba nerutsigiro muhupenyu hwavo hwese kuti vagadzirise zvimwe zviratidzo.
Ndezvipi zviratidzo zvinogona kuonekwa kana munhu arwara nechirwere ichi?
Kunyange zvazvo zviratidzo zvinoonekwa muvana vane Kuhlman-de Vries syndrome (KdVS) zvichigona kusiyana kubva kumunhu kuenda kune mumwe, pane zvimwe zvinhu zvakafanana.
Zviratidzo zvinowanzoonekwa:
- Kunonoka kukura: Ichi chiratidzo chikuru. Izvi zvinoreva kuti zvinhu zvakaita sekukambaira, kugara, kufamba, uye kutaura zvinogona kunonoka kupfuura vamwe vana vezera rimwe chete.
- Kuremara kwepfungwa kudiki kusvika pakati nepakati: Zvingangoda nguva yakawanda uye rubatsiro kuti udzidze nekunzwisisa zvinhu zvitsva.
- Kusasimba kwetsandanyama (hypotonia): Kutaura chokwadi, tsandanyama dziri mumuviri dzinogona kuita sedzakasununguka zvishoma uye dzisina kusimba. Izvi zvinogona kuita kuti zviome kuita mamwe mafambiro.
- Chirwere chekurutsa chinogara kwenguva refu: Vamwe vana vanogona kurutsa kwemazuva akati wandei pasina chikonzero chakajeka. Izvi zvinogona kudzoka nguva nenguva.
Zvimwe zviratidzo zvinogona kuonekwa nevamwe vana:
Kuwedzera kune zviratidzo zvikuru izvi, vamwe vana vanogona kusangana nemamwe matambudziko.
- Kuoma kwekudya kwevacheche: Kuoma kwekuyamwa nekumedza chikafu, kunyanya panguva yehucheche, kunogona kuitika.
- Zvirwere zvemoyo, dundira kana itsvo: Vamwe vana vanogona kuzvarwa vaine zvimwe zvikanganiso mumoyo, dundira kana itsvo.
- Scoliosis: Chirwere chekuti musana unokombama kune rumwe rutivi.
- Zvirwere zvepfari/ Kubatwa nepfari : Zvirwere zvakafanana nekubatwa nepfari zvinogona kuitika.
- Machende asina kudzika: Chirwere chekuti machende evana vechirume haaburuke zvizere kubva mudumbu achipinda mudumbu.
Maitiro neunhu hwemwana
Vana vane Koolen-de Vries Syndrome vanowanzoonekwa sevanofara uye vane hushamwari . Vanofarira kushamwaridzana nevamwe. Zvisinei, dzimwe nguva vanogonawo kuva nematambudziko akadai seAttention -Deficit/Hyperactivity Disorder (ADHD) kana mamiriro ekukura kwepfungwa uye maitiro akadai seAutism Spectrum Disorder .
Zvinhu zvakakosha zvinogona kuonekwa pachiso chevana vane Koolen-de Vries Syndrome
Vana vane chirwere ichi vanogona kunge vaine zvimwe zvinhu zvechiso. Asi yeuka, kungoti une chimwe kana zviviri zvezviratidzo izvi hazvirevi kuti une chirwere ichi. Izvi zvinofanira kusimbiswa nachiremba.
- Chiso chakareba
- Huma hombe
- Mhino yakaita sepeya
- Maziso akarembera (ptosis)
- Nzeve hombe, dzakabuda
- Kutaridzika kwemakona ekunze emaziso kunotaridzika mudenga
- Ganda rakapetwa rakafukidza makona emukati memaziso (epicanthal folds)
Zviratidzo izvi hazviitike nenzira imwe chete mumwana wese. Vamwe vana vanogona kunge vaine zvimwe zvezviratidzo izvi, nepo vamwe vangave nezvishoma.
Chii chinokonzera Koolen-de Vries Syndrome?
Iye zvino ngationei chinokonzera chirwere ichi. Koolen-de Vries Syndrome inokonzerwa nekuchinja kana kubviswa zvachose kwejini `KANSL1` riri pachromosome 17.
Funga nezvazvo, sero rega rega mumuviri wedu rine machromosome. Machromosome aya ane majini anosarudza zvese kubva pachitarisiko chedu kusvika pahunhu hwedu. Kazhinji, tine makopi maviri echromosome imwe neimwe, imwe kubva kuna amai vedu uye imwe kubva kuna baba vedu.
Kubva kuvana vane Kuhlman-de Vries syndrome (KdVS)Ruzhinji (inenge 95%) rune kopi isipo yejini re`KANSL1` panhamba yavo yechromosome 17. Izvi zvinonzi `microdeletion` , zvinoreva kuti chikamu chidiki kwazvo chejini hachipo. Ruzhinji rwasara rune jini re`KANSL1`, asi rine musiyano unodzivirira jini kuti risashande zvakanaka.
Basa rejini re'KANSL1`
Iri jini rekuti 'KANSL1' rinokosha zvikuru. Nekuti rinogadzira puroteni inobatsira kudzora mashandiro anoita mamwe majini. Izvi zvinoitika nekushandura chinhu chinonzi 'chromatin' . 'Chromatin' musanganiswa wemapuroteni ne'DNA' . Izvi ndizvo zvinoita kuti 'DNA' iunganidzwe mumachromosomes. Saka unogona kuona kukosha kwejini rekuti 'KANSL1' pakukura nekushanda zvakanaka kwezvikamu zvakasiyana-siyana mumuviri wedu.
Dambudziko iri rinogara nhaka here? (Nhaka)
Cullen-de Vries syndrome (KdVS) chirwere chinogona kugarwa nhaka se "autosomal dominant" . Zvichitaurwa zviri nyore, kana mwana akagara nhaka iyi genetic variation kubva kumubereki mumwe chete, mwana anogona kuva nechirwere ichi. Chinosanganisira shanduko imwe chete yemajini kana kubviswa musero rega rega.
Zvisinei, hazvisi nguva dzose chinhu chinogara nhaka kubva kuvabereki. Mune zvimwe zviitiko, chirwere ichi chinogona kuitika zvisina tsarukano, de novo. Izvi zvinoreva kuti hapana munhu mumhuri akambova nechirwere ichi kare, uye shanduko yemajini inogona kuitika kekutanga panguva yekukura kwemasero ekubereka emwana, kana panguva yekutanga kwemwana ari mudumbu. Saka, zvinokwanisika kuti mwana akure kunyangwe pasina munhu mumhuri akambova nechirwere ichi.
Vanachiremba vanoongorora sei chirwere ichi?
Kana muchifungidzira kuti mwana wenyu ane chirwere ichi, chinhu chekutanga chinoitwa nachiremba ndechekunyatsoongorora mwana wenyu uye kukubvunzai nezvezviratidzo zvacho. Izvi zvichakubatsirai kunzwisisa zviri nani kukura kwemwana wenyu nemaitiro ake.
Zvadaro, kuti chirwere ichi chisimbiswe zvechokwadi, bvunzo dzemajini dzinodiwa. Zvichienderana nerudzi rwekuchinja kwemajini, mhando yebvunzo dzinoitwa dzinogona kusiyana.
- Chromosomal microarray: Kuongororwa uku kunogona kuona kana chikamu chechromosome chisipo. Izvi zvinobatsira kuona 'microdeletion' yatakambotaura nezvayo.
- Kutevedzana kwemajini: Izvi zvinogona kuona kusiyana kudiki kuri mujini reKANSL1 pacharo.
Nekuti havasi vana vese vane Kuhlman-de Vries syndrome (KdVS) vane zviratidzo zvakafanana, vanachiremba vanogona kukurudzira bvunzo dzekuwedzera kuti vanzwisise zviri nani mamiriro emwana. Semuenzaniso:
- Kuongororwa kwekukura kwemwana: Izvi zvinoongorora kukura kwemwana nehunyanzvi hwake.
- Echocardiogram: Inoongorora mashandiro uye chimiro chemwoyo.
- Kuongororwa kwekudya: Izvi zvinotarisa matambudziko ese ekudya kana kunwa.
- Ultrasound yeitsvo: Inotarisa kana paine matambudziko neitsvo.
- Kuongororwa kweMagnetic Resonance Imaging (MRI): Kunotora mifananidzo yakadzama yenhengo dzemukati, dzakadai seuropi.
- X-rays: Kutsvaga matambudziko emapfupa, akadai se scoliosis.
Havasi vese vanofanira kuongororwa zvese izvi. Vanachiremba ndivo vanosarudza kuti ndeapi mabvunzo anofanirwa kuitwa zvichienderana nezviratidzo zvemwana uye zvaanoda.
Ndeapi marapirwo eKoolen-de Vries Syndrome?
Parizvino hapana mushonga weKoolen-de Vries Syndrome. Izvi zvinokonzerwa nekuti chirwere ichi chinokonzerwa nemajini. Zvisinei, kune nzira dzakasiyana-siyana dzekurapa nekurapa dzinogona kubatsira mwana kugadzirisa zviratidzo zvake, kuvandudza hupenyu hwake, uye kumubatsira kukura kusvika pakukwanisa kwake. Kurapa uku kwakagadzirirwa zvinodiwa nemwana.
Kurapa
Vanachiremba vanowanzo kurudzira nzira dzakasiyana-siyana dzekurapa:
- Kurapa kwemabasa: Izvi zvinobatsira mwana kukudziridza hunyanzvi hwekufambisa nhengo dzemuviri (semuenzaniso, kudzvanya mabhatani, kunyora) uye hunyanzvi hwekufambisa nhengo dzemuviri (semuenzaniso, kumhanya nekusvetuka) hunodiwa kuti aite mabasa ezuva nezuva.
- Kurapa muviri: Nyanzvi yekurovedza muviri inobatsira kusimbisa tsandanyama dzemwana, kuvandudza kuenzana, uye kuita kuti kufamba-famba kuve nyore. Izvi zvakakosha zvikuru kuvana vane chirwere chinonzi ``hypotonia.''
- Kurapa nekutaura: Izvi zvinobatsira kukunda matambudziko ekutaura nekutaura pfungwa. Varapi vekutaura vanoshandisa nzira dzakasiyana-siyana dzakadai semifananidzo, mutauro wemasaini, uye zvishandiso zvekutaura.
Mamwe marapirwo uye kupindira
Zvichienderana nezviratidzo zvemwana, mamwe marapirwo angadiwa:
- Mishonga yekudzivirira pfari: Vana vane pfari vanofanira kupihwa mishonga yekudzivirira pfari.
- Kuiswa kwechubhu yekudyisa vana kune zvinetso zvekudya: Vana vanonetseka nekumedza kana kusvuta chikafu nechinwiwa vangada kuiswa chubhu yekudyisa nepamhino kana mudumbu zvakananga mudumbu kuti vawane chikafu chinodiwa.
- Kuvhiyiwa: Kuvhiyiwa kunogona kudiwa kune zvirwere zvakaita se scoliosis kana machende asina kusimba.
Chikoro nerutsigiro
Vana vangada rutsigiro rwakasiyana-siyana kana zvasvika pakudzidza. Vamwe vana vanoita zvakanaka muzvikoro zvenguva dzose, nepo vamwe vachida rubatsiro rwedzidzo rwakakosha . Zvakakosha zvikuru kugadzira nzvimbo yekudzidza inoenderana nehunyanzvi hwemwana nezvinodiwa.
Vanhu vane Koolen-de Vries Syndrome vanotarisirwa kurarama hupenyu hwakadii?
Vaongorori havagone kutaura chokwadi kuti vanhu vane chirwere ichi vanorarama kwenguva yakareba sei. Nekuti hachiwanzoitiki, kuchine zvidzidzo zvishoma zvenguva refu nezvazvo. Zvisinei, zvichibva paruzivo rwazvino, zvinowanzo tarisirwa kuti vanhu vane chirwere ichi vararame kusvika vakura .
Chii chandinofanira kutarisira kana mwana wangu aine Kuhl-de Vries syndrome (KdVS)?
Hupenyu hwevana vane Koolen-de Vries Syndrome hunogona kusiyana zvikuru zvichienderana nekuoma kwezviratidzo zvavo. Mwana wako angangoda kuona vanachiremba vakasiyana uye kuenda kumakiriniki kakawanda. Kurapwa nemishonga zvinogona kuva chikamu chikuru chehupenyu hwake. Uyewo, vamwe vana vane chirwere ichi vangasada kuona vanachiremba kana kugamuchira kurapwa kakawanda sevamwe.
Chinhu chinonyanya kukosha ndechekuyeuka kuti hausi wega. Vanachiremba nevanorapa mwana wako vari newe nguva dzese.
Unogona kubatsira mwana wako kuwana rutsigiro rwaanoda kuchikoro. Izvi zvinogona kusanganisira makirasi akasarudzika kana mudzidzisi . Taura nevadzidzisi vemwana wako nevakuru vechikoro kuti vamubatsire kuwana zvekushandisa zvavanoda. Semuenzaniso, kana mwana wako aine dambudziko rekutaura, iva nechokwadi chekuti anoshanda nenyanzvi yekurapa kutaura.
Vakuru vane Kuhlman-de Vries Syndrome (KdVS) vanowanzoomerwa nekurarama vega. Ichi chinhu chinofanira kuongororwa pamwe chete nevanovachengeta navanachiremba, zvichienderana nemamiriro emunhu mumwe nemumwe.
Kana ukaona kuti mwana wako ane Kuhlman-de Vries Syndrome (KdVS), zvakajairika kunzwa manzwiro akasiyana-siyana, anosanganisira kusuruvara, kuzvidya mwoyo, uye pamwe nehasha. Hazvisi nyore kubata nemanzwiro iwayo. Asi, ndinoda kukuyeuchidza kuti hausi wega. Vanachiremba vemwana wako, vanamukoti, uye varapi vachakubatsira parwendo urwu. Kubva pakuongororwa kusvika pakurapwa, vakazvipira kukubatsira kugadzirisa mamiriro emwana wako uye kubatsira mwana wako kurarama hupenyu huri nani.
Pakupedzisira, meseji yekudzokera nayo kumba
- Koolen-de Vries Syndrome chirwere chisingawanzoitiki chemajini. Chinokonzerwa nekuchinja kwejini re'KANSL1' pachromosome 17.
- Kunonoka kukura, kuremara kwepfungwa, uye chimiro chechiso chakasiyana ndezvimwe zvezviratidzo zvikuru zvechirwere ichi.
- Vana ava vanowanzova vanofara uye vane hushamwari .
- Kunyangwe pasina mushonga chaiwo, kune nzira dzakasiyana-siyana dzekurapa zviratidzo uye kuvandudza hupenyu .
- Kuzivikanwa kwemwana nekukurumidza uye kupindira kwakakosha zvikuru pakukura kwake.
- Kana mwana wako aine chirwere ichi, chinhu chakakosha kutevedzera mazano echiremba, kupa kurapwa kwakakodzera, uye kupa mwana wako rudo nerutsigiro rwakawanda .
- Kubatana nemapoka ekutsigira vabereki vane vana vane zvirwere izvi kunogonawo kuva simba guru. Usambozeza kubvunza vanachiremba vako nezvemibvunzo yako nezvinokunetsa.
Tinovimba kuti ruzivo urwu rwakubatsira kuti unzwisise Koolen-de Vries Syndrome.
👩🏽⚕️ Mibvunzo yekuwedzera (Mibvunzo Inowanzo bvunzwa)
💬 Mineralocorticoid mushonga uripo mumuviri wedu here?
Kwete! Iri 'boka rakakosha kwazvo remahormone' rinogadzirwa neadrenal gland iri pamusoro peitsvo. Homoni huru uye inozivikanwa zvikuru yeizvi i'Aldosterone'. Homoni iyi ndiyo inoenzanisa huwandu hwemunyu nemvura mumuviri wako uye inoita basa rese rekuchengetedza 'Blood Pressure' yako padanho rakakodzera (120/80).
💬 Chii chinoitika kuBP kana hormone iyi ikadzikira/ikawedzera?
Kana homoni iyi ikawedzera, inochengetedza mvura nemunyu (sodium) mumuviri kuti zvisaburitswe, zvichiita kuti BP ikwire kusvika panosvika mvura painoungana uye tsinga dzinoputika (hypertension). Zvisinei, kana homoni iyi yealdosterone ikadzikira, mvura nemunyu zvese mumuviri zvinoenda neweti, saka BP inodzikira, uye unogona kupera simba wodonha.
💬 Saka mapiritsi api anopihwa vanhu muma pharmacy kuti vaderedze BP yavo ine njodzi?
Kune avo vane BP yakakwira zvakanyanya (kana mamwe mapiritsi asingaidzore), piritsi rinonzi Spironolactone (Aldactone) rinokurudzirwa zvikuru! Uyu mushonga uri muboka re'Mineralocorticoid receptor antagonist'. Unovhara hormone iyoyo kushanda, unobvisa munyu nemvura mumuviri kuburikidza neweti, uye unodzora BP zvinoshamisa.
` Cullen-De Vries Syndrome, Zvirwere zveMajini, Kunonoka Kukura, Kuremara Kwepfungwa, Gene reKANSL1, Chromosome 17, Hutano hweVana
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