Ingabe izinzipho namadolo engane yakho ahlukile? Ingabe kungaba yi-Nail-Patella Syndrome?

Uke waphawula noma yiziphi izinguquko ezinzipho noma emadolweni engane yakho? Ngezinye izikhathi lokhu kungaba izimpawu zesimo sofuzo esibizwa ngokuthi i-Nail-Patella Syndrome. Lokhu kungase kuzwakale kuyesabisa, kodwa ungakhathazeki. Ake sixoxe ngakho ngokuningiliziwe nangokulula. Lokhu kungathinta ukubukeka nokusebenza kwezingxenye zezinzipho, amathambo, amehlo, nezinso zengane.

Ziyini izimpawu zalesi simo? Uzibona kanjani?

Ezinye izingxenye zomzimba wengane ene-Nail-Patella Syndrome zingase zibukeke noma zisebenze ngendlela ehlukile kunokulindelekile. Ake sibheke ukuthi ziyini lezi zimpawu:

Izinzipho

Izinzipho zengane yakho zingase zibe zimfushane kakhulu, noma zingabi khona. Ungase uqaphele ukugoba, ukugoba, noma ukushintsha kombala ezinzipho. Izinzipho zivame ukuthinteka kakhulu kunezinzipho zezinyawo. Lezi zinguquko zibonakala kakhulu esithupheni nasemunweni wokukhomba.

Idolo (i-Patella)

I-kneecap, noma lokho odokotela abakubiza ngokuthi "i-Patella", ingaba ncane, ithathe isimo esihlukile, noma inyamalale. Ngezinye izikhathi le kneecap ingabekwa phezulu kancane noma eceleni kunokujwayelekile. Lokhu kungabangela idolo lengane ukuba libuhlungu, lizizwe lingazinzile, noma lingakwazi ukugoba noma ukuqondisa idolo kahle (ububanzi bokunyakaza). Ukuqhekeka kwe-Patella kuyinto evamile kulesi simo. Cabanga, ngenkathi idlala, ingane yakho ibamba idolo layo ngokuzumayo bese iqala ukukhala, ingakwazi ukuhamba.

Indololwane

Amathambo ezingalweni zengane yakho angase angakhuli kahle njengoba kulindelekile. Futhi, ngezinye izikhathi ungase ubone isikhumba esengeziwe (njengezicubu ezixhumanisayo) esizungeze indololwane. Lezi zinguquko zingase zinciphise ikhono lokujika ingalo, ukuyinweba, nokugoba indololwane.

Amathambo enqulu

Ingane yakho ingase ibe namaqhubu amancane (odokotela bawabiza ngokuthi 'izimpondo ze-iliac') emathanjeni ayo enqulwini. Ngokuvamile akhona kuzo zombili izinhlangothi zethambo lenqulwini. Ngezinye izikhathi angazwakala esikhumbeni sengane, kodwa isikhathi esiningi awayona inkinga enkulu.

Amehlo

Ingcindezi engaphakathi kwamehlo engane inganda (umfutho wegazi ophakeme emehlweni). Lokhu kungagcina sekuphenduke isimo esibizwa ngokuthi i-glaucoma. Nakuba ngokuvamile kungekho zimpawu ekuqaleni, ezinye izingane zingase zibe nekhanda elibuhlungu, ama-halo azungeze ukukhanya, noma umbono ofiphele.

Izinso

Cishe abantu abane kwabayishumi abane-Nail-Patella syndrome bazoba nesifo sezinso, kungaba sebuntwaneni noma ebudaleni. Lokhu kungasukela kokuncane kuya kokusongela impilo. Ngisho nesifo sezinso esincane singaba sibi kakhulu, kancane kancane noma ngokuzumayo.

Ezinye izimpawu

Abanye abantu abane-Nail-Patella syndrome bangase babe nezinye izimpawu, njenge:

• Ukuhamba ngezinzwane ngenxa yokuqina kwe-Achilles tendon.
• Ukuncipha kwemisipha ezingalweni nasemilenzeni.
• Ukuqunjelwa kanye/noma i-irritable bowel syndrome.
• Ukuncipha kwamaminerali emathanjeni.
• Ukungezwani, ukuqaqamba, noma ukulahlekelwa umuzwa ezandleni nasezinyaweni ngezikhathi ezithile.
• Amazinyo abuthakathaka noma aphuka kalula noma i-enamel yamazinyo enciphile.
• Ukugoba okungavamile komgogodla (i-scoliosis).

Abacwaningi basazama ukuqonda ukuthi lezi zinkinga zivame kangakanani kubantu abane-Nail-Patella syndrome.

Kungani lesi sifo sezinzipho sivela?

Kalula nje, i-Nail-Patella Syndrome ibangelwa izinguquko ezakhiweni zofuzo zengane yakho (izinhlobo zofuzo). Ngokuvamile , lezi zinguquko zitholakala ku-gene ebizwa ngokuthi i-LMX1B kubantu abanalesi simo. Le gene ye-LMX1B yiyo etshela ingane ukuthi izenze kanjani izinto ngendlela efanele njengezingalo, imilenze, amehlo, nezinso ngesikhathi isesibelethweni.

Lezi zinhlobo zezakhi zofuzo zibangela ukuthi iphrotheni ye-LMX1B ingasebenzi njengoba bekulindelekile. Ngenxa yalokho, izingxenye ezahlukene zomzimba wengane azakheki ngendlela evamile, okuholela ezimpawini ze-Nail-Patella syndrome.

Kodwa-ke, akuvamile kakhulu, abanye abantu bangaba nezimpawu ze-Nail-Patella syndrome ngaphandle kokuba noshintsho ku-LMX1B gene. Abacwaningi bacabanga ukuthi ezinye izakhi zofuzo zingase zihileleke, futhi basaphenya.

Ingabe lesi sifo sidluliselwa kusuka kwesinye isizukulwane kuya kwesinye?

Yebo, i-Nail-Patella Syndrome yisimo esidluliselwa kusuka esizukulwaneni kuya kwesinye (ngendlela "elawulayo ye-autosomal"). Lokhu kusho ukuthi uma ingane izuza ikhophi eyodwa yalesi sici sofuzo kunoma yimuphi umzali, ingane inamathuba amaningi okuthuthukisa lesi sifo.

Kalula nje, uma une-Nail-Patella syndrome, izingane zakho zinethuba elingu-50% lokuthola lesi simo njengefa. Le ngozi iyafana kukho konke ukukhulelwa. Futhi akunandaba ukuthi uyintombazane noma ungumfana.

Abantu abayisishiyagalolunye kwabayishumi abane-Nail-Patella syndrome banomzali oyedwa onalesi simo. Kodwa-ke, cishe oyedwa kwabayishumi kungenzeka angabi nalungu lomndeni elinalesi simo. Lokhu kusho ukuthi ezinye izingane zingabokuqala emndenini wazo ukuzalwa nalesi sifo.

Yiziphi ezinye izinkinga ezingabangelwa yilokhu?

I-Nail-Patella Syndrome ingabangela ezinye izinkinga. Lezi yizi:

• I-osteoarthritis (ubuhlungu bamalunga) emadolweni kanye/noma ezindololwaneni zengane yakho ingase ikhule isencane kunalokho obekulindelekile.
• I-glaucoma ingaholela ekulahlekelweni umbono uma ingelashwa kahle.
• Ukwehluleka kwezinso.

Abanye abantu abane-Nail-Patella syndrome bangadinga i-dialysis noma ukufakelwa izinso ngenxa yokwehluleka kwezinso.

Futhi, uma umuntu one-Nail-Patella syndrome ekhulelwa, kunengozi yokuthola isimo esibizwa ngokuthi ``preeclampsia`` ngesikhathi sokukhulelwa. Odokotela baqapha futhi balungise imithi njengoba kudingeka ngesikhathi sokukhulelwa ukuze banciphise le ngozi.

Lesi sifo sitholakala kanjani ngokunembile?

Odokotela bazokwenza ukuhlolwa okukodwa noma ngaphezulu kwalokhu ukuze baxilonge lesi simo:

• Ukuhlolwa komzimba : Bheka izinto ezifana noshintsho ezinzipikilini kanye noshintsho lwamathambo.
• Ukuhlolwa kwezithombe ezikhethekile : Ama-X-ray, ama-CT scan, kanye nama-MRI asetshenziselwa ukuhlola amathambo ngokuseduze.
• Ukuhlolwa kwegazi kanye/noma umchamo : Hlola ukuthi izinso zisebenza kanjani.
• Ukuhlolwa kwezinso : Kuthathwa ingxenye encane yezicubu ezinso bese kuhlolwa izinguquko zezicubu ezithile kwi-Nail-Patella syndrome.
• Ukuhlolwa kwezakhi zofuzo : Lokhu kuhlola izinhlobo zezakhi zofuzo.

Odokotela bazokhuluma nawe futhi babuze ngomlando wezokwelapha womndeni wengane yakho. Isibonelo, bazobuza ukuthi kukhona yini emndenini wakho oke waba ne-Nail-Patella syndrome noma esinye isimo sofuzo. Lolu lwazi luzosiza ekuxilongweni. Bangase futhi batuse ukuhlolwa kofuzo kuwe noma kwamanye amalungu omndeni.

Izimpawu ze-Nail-Patella syndrome zivame ukuvela ebuntwaneni. Kodwa-ke, kwabanye abantu, lesi simo singase singatholakali iminyaka eminingi, kungaba ngoba izimpawu zincane kakhulu noma ngoba izimpawu azibonakali kahle. Odokotela bangakwazi ukuxilonga lesi simo ezinganeni nakubantu abadala babo bonke ubudala.

Hlobo luni lodokotela abazolapha ingane yami futhi baxilonge lesi sifo?

Ingane yakho ingadinga ithimba lodokotela abangochwepheshe ezingxenyeni zomzimba ezithintekile yi-Nail-Patella Syndrome. Isibonelo:

• Udokotela wamathambo usiza ngezinkinga zamathambo.
• Udokotela wezinso uqapha ukusebenza kwezinso zengane.
• Uchwepheshe wokunakekelwa kwamehlo unakekela amehlo engane.

Yiziphi izindlela zokwelapha i-nail-patella syndrome?

I-Nail-Patella Syndrome iyisimo esihlala isikhathi eside. Akukho ukwelashwa kwaso. Kodwa-ke, kunezindlela zokwelapha ezitholakalayo zokulawula izimpawu nokunciphisa ingozi yezinkinga.

Kunezinhlobo ezahlukene zokwelapha lokhu, futhi kungadingeka ukwelashwa okungaphezu kokukodwa kuye ngokuthi lesi sifo sithinta kanjani ingane yakho. Odokotela bengane yakho bazohlela ukwelashwa ngokusekelwe ezidingweni zayo. Lezi zidingo zingashintsha ngokuhamba kwesikhathi. Ezinye zezindlela zokwelapha ezingatholakala zifaka:

• Ukwelashwa ngokomzimba ukusiza ngezinkinga zokuhamba.
• Imithi yokulawula ubuhlungu bamathambo nemisipha, umfutho wegazi, noma umfutho wamehlo.
• Ukuhlinzwa ukulawula ukukhubazeka kwamathambo, i-glaucoma, noma isifo sezinso esibi kakhulu (kufaka phakathi ukufakelwa izinso).

Odokotela bengane yakho bazochaza izinzuzo nezingozi zokwelashwa ngakunye kuwe. Ukuphatha isimo esiyinkimbinkimbi sezakhi zofuzo zengane kungazwakala kukucindezela. Ngakho-ke ungangabazi ukubuza imibuzo nokwabelana ngezinto ezikukhathazayo. Ngaleyo ndlela, ungazizwa uqiniseka ngohlelo lokwelashwa kwengane yakho.

Ingabe lesi simo sizothinta impilo yengane?

I-Nail-Patella Syndrome ngokuvamile ayithinti isikhathi sokuphila komuntu. Kodwa-ke, uma kuvela isifo sezinso esibi, lokho kungashintsha. Lesi simo singathinta isibikezelo kanye nokuthi umuntu uzophila isikhathi esingakanani. Abanye abantu bangadinga ngisho nokufakelwa izinso.

Izimo zofuzo ezifana ne-Nail-Patella syndrome zithinta ingane ngayinye ngendlela ehlukile, ngakho-ke kunzima ukusho ukuthi yiziphi izimpawu ingane yakho ezoba nazo nokuthi zizoba zimbi kangakanani. Odokotela bengane yakho bazokwazi ukukutshela okwengeziwe ngalokhu.

Ingabe i-Nail-Patella syndrome ingavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela lesi simo sofuzo. Uma wena noma umlingani wakho nine-Nail-Patella Syndrome, futhi nihlela ukuba nomntwana, kuwumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo . Bangakusiza uqonde amathuba okuthi ingane yakho izozuza lesi sifo njengefa.

Ingane yami kufanele ibone nini udokotela?

Ingane yakho cishe izodinga ukubonana nodokotela abaningana abahlukene njalo. Ithimba lezokwelapha lengane yakho lizokutshela ngqo ukuthi yiziphi izikhathi zokubonana ezidingekayo nokuthi kangaki.

Ngokuvamile, ingane yakho kuzodingeka ihlolwe lezi zinto njalo:

• Ukuhlolwa komfutho wegazi.
• Ukuhlolwa komchamo, okuhlanganisa nalezo ezilinganisa 'amazinga e-albumin-creatinine'.
• Ukuhlolwa kwe-Glaucoma.
• Ukuhlolwa kokuqina kwamathambo.

Odokotela bangakusiza ukuchaza ukubaluleka kwalezi zivivinyo enganeni yakho.

Kubalulekile futhi ukunaka impilo yengqondo yengane yakho - kanye neyakho. Ingane yakho ingase ibe namahloni ngokubukeka kwayo, noma ingase idinge usizo lokwakha ukuzethemba kwayo. Ungase uzibuze nokuthi yini ongayenza ukuze uyisize izizwe kahle.

Khuluma nodokotela bengane yakho mayelana nokuxhumana namaqembu okusekela, abelaphi, kanye nabasebenzi bezenhlalakahle. Ukuba nethimba labazali abanolwazi kanye nochwepheshe bezempilo abasekela umndeni wakho kungenza umehluko omkhulu empilweni yakho yansuku zonke.

I-nail-patella syndrome ingavamile kangakanani?

Abacwaningi balinganisela ukuthi i-Nail-Patella Syndrome ithinta cishe umuntu oyedwa kwabangu-50,000. Kodwa-ke, ingase ivame kakhulu ngoba abantu abanezimpawu ezincane kakhulu abatholakali.

Ingabe kukhona amanye amagama alokhu?

"Isifo sikaFong" ngelinye igama le-Nail-Patella Syndrome. Leli gama lalivame ukusetshenziswa esikhathini esidlule. Namuhla, abantu abaningi basibiza ngokuthi i-Nail-Patella Syndrome.

Elinye igama lesimo esifanayo yi-``i-onycho-osteodysplasia yefa``. Ake sibheke incazelo yengxenye ngayinye yaleli gama:

• ``Ifa`` lisho ukuthi lingabonakala emindenini.
• ``Onycho`` kusho izipikili.
• Igama elithi "Osteo" lisho amathambo.
• "I-Dysplasia" isho ukuthi kukhona ukukhula okungavamile noma isici sokuthuthukiswa engxenyeni yomzimba.

Ngakho-ke, yiziphi izinto ezibaluleke kakhulu okufanele uzikhumbule kulokho esikhulume ngakho?

Uma ingane yakho inesimo sofuzo sokuphila kwayo yonke impilo njenge-Nail-Patella Syndrome, izinto zingaba nzima kakhulu. Ungase ukhathazeke ngenhlalakahle yengane yakho, ikusasa layo. Ungase uzibuze nokuthi yini oyidingayo kuyo ukuze iyisize ikhule, ichume, futhi ibe nokuphila okujabulisayo. Kungumthwalo omkhulu, kodwa akudingeki uwuthwale wedwa. Khuluma nethimba lezokwelapha lengane yakho ngezindlela zokusekela izidingo zengane yakho - nezakho.

Khumbula, ukutholakala kusenesikhathi kanye nokuphathwa kahle kwalesi sifo kuzosiza kakhulu ekusizeni ingane yakho iphile impilo evamile nenempilo. Ungesabi noma wesabe. Into ebaluleke kakhulu ukuphatha ingane yakho ngothando nangokuqonda ngenkathi ulandela iseluleko sezokwelapha.

Isifo Sezinzipho Ne -Patella, Izifo Zofuzo, Izinzipho, Amadolo, I-Patella, Isifo Sezinso, I-LMX1B, Isifo SikaFong, Impilo Yabantwana