Ngaba iinzipho namadolo omntwana wakho ahlukile? Ngaba inokuba yiNail-Patella Syndrome?

Ngaba ukhe waphawula naluphi na utshintsho kwiinzipho okanye emadolweni omntwana wakho omncinci? Ngamanye amaxesha ezi zinokuba ziimpawu zesifo semfuza esibizwa ngokuba yiNail-Patella Syndrome. Oku kunokuvakala kusoyikisa, kodwa ungakhathazeki. Makhe sithethe ngako ngokweenkcukacha nangokulula. Oku kunokuchaphazela inkangeleko kunye nokusebenza kwamalungu ezinzipho, amathambo, amehlo kunye nezintso zomntwana.

Zithini iimpawu zale meko? Uyibona njani?

Amanye amalungu omzimba womntwana one-Nail-Patella Syndrome asenokubonakala okanye asebenze ngendlela eyahlukileyo kunokuba bekulindelwe. Makhe sijonge ezi mpawu:

Izikhonkwane

Iinzipho zomntwana wakho zisenokuba zimfutshane kakhulu, okanye zingabikho. Usenokubona ukuqhekeka, ukuqhekeka, okanye ukutshintsha kombala kwiinzipho. Iinzipho zihlala zichaphazeleka ngakumbi kuneenzipho zeenyawo. Olu tshintsho lubonakala ngakumbi kubhontsi nomnwe wokukhomba.

Idolo (iPatella)

I-kneecap, okanye oko oogqirha bakubiza ngokuba yi-"Patella", inokuba ncinci, ithathe imo eyahlukileyo, okanye inyamalale. Ngamanye amaxesha le kneecap inokubekwa phezulu kancinci okanye ecaleni kunesiqhelo. Oku kunokubangela ukuba idolo lomntwana libe buhlungu, lizive lingazinzile, okanye lingakwazi ukugoba okanye ukulilungisa ngokufanelekileyo (ububanzi bokuhamba). Ukuqhekeka kwe-Patella yinto eqhelekileyo kule meko. Khawuthelekelele, ngelixa udlala, umntwana wakho ngequbuliso ubamba idolo lakhe aze aqalise ukukhala, engakwazi ukuhamba.

Ingqiniba

Amathambo asemagxeni omntwana wakho asenokungakhuli ngendlela elindelekileyo. Kwakhona, ngamanye amaxesha unokubona ulusu olongezelelweyo (njengezicubu ezidityanisiweyo) ezijikeleze ingqiniba. Olu tshintsho lunokunciphisa amandla okujika ingalo, ukuyilula, kunye nokugoba ingqiniba.

Amathambo esinqe

Umntwana wakho usenokuba neempundu ezincinci (oogqirha bazibiza ngokuba ziimpondo ze-iliac) emathanjeni akhe esinqeni. Zihlala zikhona kumacala omabini ethambo lesinqe. Ngamanye amaxesha zinokuvakala eluswini lomntwana, kodwa uninzi lwexesha aziyongxaki inkulu.

Amehlo

Uxinzelelo olungaphakathi kwamehlo omntwana lunokwanda (uxinzelelo oluphezulu lwegazi). Oku ekugqibeleni kunokukhokelela kwingxaki ebizwa ngokuba yi-glaucoma. Nangona kungekho zimpawu ekuqaleni, abanye abantwana banokuba neentloko ezibuhlungu, ii-halos ezijikeleze ukukhanya, okanye umbono ofipheleyo.

Izintso

Malunga nabantu abane kwabalishumi abane-Nail-Patella syndrome baya kuba nesifo sezintso, nokuba besebancinci okanye besebakhulile. Oku kunokuhluka ukusuka kwisifo esincinci ukuya kwisifo esisongela ubomi. Kwanesifo sezintso esincinci sinokuba qatha, kancinci kancinci okanye ngequbuliso.

Ezinye iimpawu

Abanye abantu abane-Nail-Patella syndrome banokufumana nezinye iimpawu, ezifana nezi:

• Ukuhamba ngeenzwane ngenxa yokuxinana kwe-Achilles tendon.
• Ukuncipha kwemisipha kwiingalo nasemilenzeni.
• Ukuqunjelwa kunye/okanye isifo samathumbu esibuhlungu.
• Ukuncipha koxinano lweeminerali zamathambo.
• Ukuvaleka, ukurhawuzelela, okanye ukuphelelwa zimvakalelo ezandleni nasezinyaweni ngamanye amaxesha.
• Amazinyo abuthathaka okanye aqhekeka lula okanye i-enamel yamazinyo enciphileyo.
• Ukugoba okungaqhelekanga komqolo (i-scoliosis).

Abaphandi basazama ukuqonda ukuba ezi ngxaki zixhaphake kangakanani kubantu abane-Nail-Patella syndrome.

Kutheni le nto kukho esi sifo se-nail-patella?

Ngamafutshane, i-Nail-Patella Syndrome ibangelwa lutshintsho kwiijini zomntwana wakho (iijini ezahlukeneyo). Ngokuqhelekileyo , olu tshintsho lufumaneka kwijini ebizwa ngokuba yi-LMX1B kubantu abanale meko. Le jini ye-LMX1B yiyo exelela umntwana indlela yokwenza izinto ngendlela efanelekileyo njengeengalo, imilenze, amehlo, kunye nezintso ngelixa esesibelekweni.

Ezi ntlobo zezakhi zofuzo zibangela ukuba iproteni ye-LMX1B ingasebenzi njengoko bekulindelwe. Ngenxa yoko, iindawo ezahlukeneyo zomzimba womntwana aziveli ngendlela eqhelekileyo, nto leyo ebangela iimpawu ze-Nail-Patella syndrome.

Nangona kunjalo, kunqabile kakhulu, abanye abantu banokubonakalisa iimpawu ze-Nail-Patella syndrome ngaphandle kokuguquka kwe-gene ye-LMX1B. Abaphandi bacinga ukuba ezinye ii-genes zinokuba negalelo, kwaye basaphanda.

Ingaba esi sifo sidluliselwa kwizizukulwana ngezizukulwana?

Ewe, i-Nail-Patella Syndrome yimeko edluliselwa kwizizukulwana ngezizukulwana (ngendlela "elawulayo ye-autosomal"). Oku kuthetha ukuba ukuba umntwana ufumana ikopi enye yale gene variant kumzali ngamnye, umntwana unokuba nethuba elikhulu lokufumana le syndrome.

Ngamafutshane, ukuba une-Nail-Patella syndrome, abantwana bakho banethuba elingama-50% lokufumana esi sifo njengelifa. Le ngozi iyafana kuyo yonke into yokukhulelwa. Kwaye akunamsebenzi nokuba uyintombazana okanye uyinkwenkwe.

Malunga nabantu abalithoba kwabalishumi abane-Nail-Patella syndrome banomzali omnye onesi sifo. Nangona kunjalo, malunga nomntu omnye kwabalishumi usenokungabi nalungu losapho elinaso esi sifo. Oku kuthetha ukuba abanye abantwana ngabokuqala kusapho lwabo ukuzalwa benesi sifo.

Zeziphi ezinye iingxaki ezinokubangela oku?

I-Nail-Patella Syndrome inokubangela iingxaki ezithile. Nazi:

• I-Osteoarthritis (iintlungu zamalungu) emadolweni okanye kwiingqiniba zomntwana wakho zinokuvela esemncinci kunokuba bekulindelwe.
• I-Glaucoma ingakhokelela ekulahlekelweni kokubona ukuba ayinyangwanga kakuhle.
• Ukungasebenzi kakuhle kwezintso.

Abanye abantu abane-Nail-Patella syndrome banokufuna i-dialysis okanye ukufakelwa izintso ngenxa yokungasebenzi kakuhle kwezintso.

Kwakhona, ukuba umntu one-Nail-Patella syndrome ukhulelwa, kukho umngcipheko wokuba nesifo esibizwa ngokuba yi-"preeclampsia" ngexesha lokukhulelwa. Oogqirha bajonga kwaye balungise amayeza njengoko kufuneka ngexesha lokukhulelwa ukuze banciphise lo mngcipheko.

Sichongwa njani esi sifo ngokuchanekileyo?

Oogqirha baza kwenza olunye okanye ngaphezulu kwezi vavanyo ukuze bafumanise esi sifo:

• Uvavanyo lomzimba : Khangela izinto ezifana notshintsho kwizinzipho kunye notshintsho lwamathambo.
• Uvavanyo olukhethekileyo lwemifanekiso : Ii-X-ray, ii-CT scans, kunye nee-MRIs zisetyenziselwa ukuhlolisisa amathambo ngokusondeleyo.
• Uvavanyo lwegazi kunye/okanye lomchamo : Jonga indlela ezisebenza ngayo izintso.
• I-biopsy yezintso : Kuthathwa iqhekeza elincinci lesicubu kwizintso kwaye kuhlolwe utshintsho lwesicubu oluthile kwi-Nail-Patella syndrome.
• Uvavanyo lwemfuza : Olu vavanyo lokujonga iintlobo zemfuza.

Oogqirha baza kuthetha nawe baze bakubuze ngembali yempilo yomntwana wakho. Umzekelo, baza kubuza ukuba kukho umntu kusapho lwakho okhe waba ne-Nail-Patella syndrome okanye esinye isifo semfuza. Olu lwazi luya kunceda ekuxilongweni. Banokucebisa novavanyo lwemfuza kuwe okanye kwamanye amalungu osapho.

Iimpawu ze-Nail-Patella syndrome zihlala zibonakala kwasebuntwaneni. Nangona kunjalo, kwabanye abantu, le meko isenokungabonwa kangangeminyaka, nokuba kungenxa yokuba iimpawu zincinci kakhulu okanye kuba iimpawu azibonakali kakuhle. Oogqirha banokufumanisa le meko kubantwana nakubantu abadala bayo yonke iminyaka.

Ngabaphi oogqirha abaza kunyanga umntwana wam baze baxilonge isifo?

Umntwana wakho usenokudinga iqela loogqirha abaziingcali kwiindawo zomzimba ezichaphazelekileyo yiNail-Patella Syndrome. Umzekelo:

• Ingcali yamathambo inceda ngeengxaki zamathambo.
• Ingcali yezifo zengqondo ijonga ukusebenza kwezintso zomntwana.
• Ingcali yokhathalelo lwamehlo inyamekela amehlo omntwana.

Ziziphi iindlela zonyango lwe-nail-patella syndrome?

I-Nail-Patella Syndrome yimeko ehlala ubomi bonke. Akukho nyango lwayo. Nangona kunjalo, kukho unyango olufumanekayo lokulawula iimpawu kunye nokunciphisa umngcipheko weengxaki.

Kukho iintlobo ezahlukeneyo zonyango loku, kwaye kunokufuneka unyango olungaphezu kolunye kuxhomekeke kwindlela esi sifo esichaphazela ngayo umntwana wakho. Oogqirha bomntwana wakho baya kucwangcisa unyango ngokusekelwe kwiimfuno zakhe. Ezi mfuno zinokutshintsha ngokuhamba kwexesha. Ezinye zeendlela zonyango ezinokufumaneka ziquka:

• Unyango lomzimba ukunceda kwiingxaki zokuhamba.
• Amayeza okulawula iintlungu zamathambo nezihlunu, uxinzelelo lwegazi, okanye uxinzelelo lwamehlo.
• Utyando lokulawula iingxaki zamathambo, i-glaucoma, okanye isifo sezintso esibi (kuquka ukufakelwa kwezintso).

Oogqirha bomntwana wakho baza kukuchazela izinto ezilungileyo nezingalunganga zonyango ngalunye. Ukulawula imeko enzima yemfuza yomntwana kunokuba nzima. Ngoko ke ungathandabuzi ukubuza imibuzo nokwabelana ngezinto ezikuxhalabisayo. Ngale ndlela, unokuziva uqinisekile ngesicwangciso sonyango lomntwana wakho.

Ngaba le meko iza kuchaphazela ubomi bomntwana?

I-Nail-Patella Syndrome ayidli ngokuchaphazela ubomi bomntu. Nangona kunjalo, ukuba kuvela isifo sezintso esibi, oko kunokutshintsha. Le ngxaki inokuchaphazela i-prognosis kunye nokuba umntu uza kuphila ixesha elingakanani. Abanye abantu banokufuna nokufakelwa izintso.

Iimeko zemfuza ezifana ne-Nail-Patella syndrome zichaphazela umntwana ngamnye ngendlela eyahlukileyo, ngoko ke kunzima ukutsho ngokuthe ngqo ukuba zeziphi iimpawu umntwana wakho aza kuba nazo kunye nokuba ziya kuba nzima kangakanani. Oogqirha bomntwana wakho baya kukwazi ukukuxelela okungakumbi ngale nto.

Ngaba i-Nail-Patella syndrome ingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela esi sifo semfuza. Ukuba wena okanye iqabane lakho nine-Nail-Patella Syndrome, kwaye niceba ukuba nomntwana, kulungile ukuthetha nomcebisi wezemfuza . Banokukunceda uqonde amathuba okuba umntwana wakho azuze esi sifo njengelifa.

Umntwana wam ufanele aye nini kugqirha?

Umntwana wakho uya kufuna amadinga okubonana noogqirha abahlukeneyo rhoqo. Iqela lezonyango lomntwana wakho liya kukuxelela ngokuthe ngqo ukuba zeziphi iidinga zokubonana nogqirha abahlukeneyo kwaye kangaphi.

Ngokwesiqhelo, umntwana wakho kuya kufuneka ahlolwe ezi zinto rhoqo:

• Ukuhlolwa koxinzelelo lwegazi.
• Uvavanyo lomchamo, kuquka nolo lulinganisa `amanqanaba e-albumin-creatinine`.
• Ukuhlolwa kweGlaucoma.
• Uvavanyo loxinano lwamathambo.

Oogqirha banokukunceda ucacise ukubaluleka kwezi mvavanyo kumntwana wakho.

Kubalulekile nokuba unike ingqalelo kwimpilo yengqondo yomntwana wakho - kunye neyakho. Umntwana wakho usenokuba neentloni ngenkangeleko yakhe, okanye usenokufuna uncedo lokwakha ukuzithemba kwakhe. Usenokuzibuza nokuba yintoni onokuyenza ukuze umncede azive engcono.

Thetha noogqirha bomntwana wakho malunga nokunxibelelana namaqela enkxaso, iingcali zonyango, kunye nabasebenzi bezentlalo. Ukuba neqela labazali abanamava kunye neengcali zempilo ezixhasa usapho lwakho kunokwenza umahluko omkhulu kubomi bakho bemihla ngemihla.

Inqabile kangakanani i-nail-patella syndrome?

Abaphandi baqikelela ukuba i-Nail-Patella Syndrome ichaphazela umntu omnye kwabangama-50,000. Nangona kunjalo, isenokuba yinto eqhelekileyo kuba abantu abaneempawu ezincinci kakhulu abafumani zimpawu.

Ngaba kukho amanye amagama alo mba?

``Isifo sikaFong`` lelinye igama le-Nail-Patella Syndrome. Eli gama lalisetyenziswa rhoqo ngaphambili. Namhlanje, abantu abaninzi bayibiza ngokuba yi-Nail-Patella Syndrome.

Elinye igama lemeko efanayo yi-``hereditary onycho-osteodysplasia``. Makhe sijonge intsingiselo yenxalenye nganye yeli gama:

• ``Ilifa`` lithetha ukuba linokubonwa kwiintsapho.
• ``Onycho`` uthetha iinzipho.
• Igama elithi ``Osteo`` lithetha amathambo.
• ``I-Dysplasia'' ithetha ukuba kukho uphuhliso olungaqhelekanga okanye isiphene sophuhliso kwinxalenye yomzimba.

Ngoko ke, zeziphi izinto ezibalulekileyo ekufuneka sizikhumbule kwizinto esithethe ngazo?

Xa umntwana wakho enesifo semfuza esifana ne-Nail-Patella Syndrome ubomi bakhe bonke, izinto zinokuba nzima kancinci. Usenokuba ukhathazekile ngempilo-ntle yomntwana wakho, ikamva lakhe. Usenokuba uzibuza ukuba yintoni oyifunayo kuye ukuze amncede akhule, aphumelele, kwaye abe nobomi obonwabisayo. Ngumthwalo omkhulu, kodwa akufuneki uwuthwale wedwa. Thetha neqela lezonyango lomntwana wakho malunga neendlela zokuxhasa iimfuno zomntwana wakho - nezakho.

Khumbula, ukubhaqwa kwangoko kunye nolawulo olufanelekileyo lwesifo kuya kunceda kakhulu umntwana wakho aphile ubomi obuqhelekileyo nobunempilo. Musa ukoyika okanye uxhalabe. Eyona nto ibalulekileyo kukuphatha umntwana wakho ngothando nangokuqonda ngelixa ulandela iingcebiso zonyango.

Isifo seZinzipho-Patella, Izifo zofuzo, Izinzipho, iDolo, iPatella, Isifo sezintso, i-LMX1B, Isifo sikaFong, Impilo yabantwana