Yintoni iNoonan Syndrome? Musa ukoyika, masiqaphele oku

Ngaba wakha waphawula into engaqhelekanga ebusweni bomntwana wakho? Mhlawumbi amehlo akhe akude kancinci, okanye intamo yakhe imfutshane kancinci... Ukuba ukukhula komntwana wakho kubonakala kuhamba kancinci kunye nezi zinto, isizathu sinokuba yimeko ongazange uyive ebizwa ngokuba yi-'Noonan Syndrome.' Ungakhathazeki, le asiyonto abantu abaninzi abayaziyo. Ngoko masithethe ngayo namhlanje.

Yintoni kanye kanye iNoonan Syndrome?

Ngamafutshane, i-Noonan syndrome yimeko yemfuza umntwana azalwa nayo. Oku kunokuchaphazela uphuhliso lwamalungu ahlukeneyo omzimba womntwana. Abanye abantwana baneempawu ezincinci kakhulu ngenxa yesi simo. Oko kukuthi, azibonakali ngaphandle. Nangona kunjalo, abanye abantwana banokuba neengxaki zempilo ezinzulu ngakumbi.

Kule meko, umntwana unokuba neempawu ezithile zobuso (umzekelo, ibunzi elibanzi, amehlo avulekileyo), ubude obufutshane (ubude obufutshane), iingxaki zamehlo, kunye neziphene zentliziyo zokuzalwa nazo.

Ngubani ofumana le meko? Ixhaphake kangakanani?

I-Noonan syndrome yimeko enokwenzeka xa umntu ezalwa. Ayibangelwanga yimpazamo yomntu.

• Ilifa elivela kubazali: Malunga nama-50% abantwana abane-Noonan syndrome banomzali onesi sifo. Oku kuthetha ukuba ukuba omnye wabazali unaso, umntwana unethuba lama-50% lokusifumana njengelifa.
• Ukwenzeka okungacwangciswanga: Ngamanye amaxesha, le meko inokwenzeka ngenxa yotshintsho olungacwangciswanga (ukuguquka okuzenzekelayo) kwiijini zomntwana, ngaphandle kokuba nabani na kusapho abe nale meko.

Esi asisosifo singaqhelekanga njengoko unokucinga. Ngokomyinge, umntwana omnye kwi-1,000 ukuya kwi-2,500 ezizalwayo uchatshazelwa sesi sifo.

Yintoni ebangela i-Noonan syndrome?

Kukho ii-genes ezithile ezixelela izicubu zomzimba wethu ukuba zikhule kwaye zahlukane. I-Noonan syndrome idla ngokubangelwa lutshintsho ('iinguqu') kwezi genes. Ngenxa yolu tshintsho, iiproteni eziveliswa zezo genes zihlala zisebenza ixesha elide kunokuba kufanele. Kufana nesibane esihlala sikhanya endaweni yokucima xa kufuneka sicime. Oku kuphazamisa ukukhula okuqhelekileyo kunye nokwahlukana kweeseli.

Ngaba kukho ezinye iimeko ezifana nale?

Ewe, i-Noonan syndrome yimeko ekwiqela lezifo ezibizwa ngokuba yi-'RASopathies'. Ezinye izifo kweli qela nazo zinezizathu ezifanayo zemfuza. Ke ngoko, iimpawu zazo zihlala zifana.

Nazi ezinye zeemeko ezinjalo:

• ``Isifo sentliziyo esibangelwa kukulunywa kwesikhumba```
• `Isifo sikaCostello`
• ``Uhlobo lwe-Neurofibromatosis 1 (NF1)''
• `Isifo sikaLegius`
• 'Isifo seTurner'

Zithini iimpawu zeNoonan syndrome?

Iimpawu zingahluka kakhulu kumntwana ngamnye. Abanye abantwana banokuba neempawu ezincinci kakhulu, ngelixa abanye banokuba neempawu ezinzima nezisongela ubomi. Iimpawu ezininzi ziqala esibelekweni okanye zivele ngaphambi kokuba zibe neminyaka eli-11 ubudala.

Kodwa into entle kukuba njengoko umntwana ekhula, uninzi lweempawu zobuso ezicacileyo ziyaphela kancinci kancinci.

Ukuze kube lula ukuqonda, masizahlule ezi mpawu zibe ziitheyibhile ezahlukeneyo.

Iingxaki ezinxulumene nentliziyo

Abantwana abaninzi abane-Noonan syndrome banokuba nesifo sentliziyo sokuzalwa. Abanye abantwana banokufuna unyango olukhawulezileyo . Abanye abantwana banokuba nesifo sentliziyo kamva ebomini. Iimeko zentliziyo eziqhelekileyo ziquka:

• Umngxuma ophakathi kwe-atria yentliziyo (i-atrial septal defect).
• Ukutyeba kwemisipha yentliziyo (i-hypertrophic cardiomyopathy).
• I-stenosis yemithambo yemiphunga.

Ezinye iingxaki zempilo ezinokubakho

• Ubunzima bokuphefumla: Umzekelo, iimeko ezifana ne-'laryngomalacia'.
• Ukudumba kwezandla neenyawo: Ukwanda kolwelo (i-lymphedema) ngenxa yengxaki kwinkqubo ye-lymphatic.
• Ukulibaziseka kophuhliso .
• Ukopha okanye ukukrweleka lula .
• Ubunzima bokuncancisa ngexesha lobuntwana.
• Amasende angaphumiyo kumakhwenkwe . Ukuba akanyangwa, oku kunokukhokelela ekubeni angafumani bantwana kwixesha elizayo.
• I-Scoliosis .
• Ukuphazamiseka kokubona okanye ukuva.
• Iziphene zokuzalwa ezinxulumene nezintso.

Zeziphi ezinye iingxaki eziza nale nto?

Abantwana abaninzi abane-Noonan syndrome bakhula kancinci kunesiqhelo, ingakumbi ngexesha lokufikisa. Kwakhona, malunga ne- 25% yabantwana banokuba neengxaki zokufunda. Nangona kunjalo, linani elincinci kakhulu elinokukhubazeka kwengqondo. Oku kuthetha ukuba uninzi lwabantwana lunokufunda ngokuqhelekileyo. Malunga ne-10-15% yabantwana banokufuna inkxaso ekhethekileyo yemfundo.

Ukongeza, abanye abantwana banomngcipheko omncinci kakhulu wokufumana imeko engaqhelekanga ye-leukemia yobuntwana ebizwa ngokuba yi-'juvenile myelomonocytic leukemia (JMML)' okanye eminye imidlaza yobuntwana. Kodwa ungakhathazeki, lo mngcipheko uphantsi kakhulu, kwi -4% xa uneminyaka engama-20.

Ugqirha uyifumanisa njani le nto? (Ukuxilongwa)

Ugqirha wakho unokurhanela ukuba umntwana wakho une-Noonan syndrome emva kokuba emhlolile emzimbeni aze abuze ngeempawu zakho. Ukuqinisekisa ukuba unesifo kwaye akhuphe ezinye iimeko, ugqirha wakho unokuyalela iimvavanyo ezahlukeneyo.

Olu vavanyo lungabandakanya:

• Ubalo lwegazi olupheleleyo (i-CBC)
• I-X-reyi yesifuba
• Iskeni ye-CT
• Uvavanyo lwe-'Echocardiogram' olujonga ukusebenza kwentliziyo
• Uvavanyo lwe-`Electrocardiogram (EKG)` olujonga umsebenzi wombane wentliziyo.
• Uvavanyo lwe-genetic
• Iskeni ye-ultrasound (`i-Ultrasound`)

Ngaba kukho unyango lwe-Noonan syndrome?

Akukho nyango lwe-Noonan syndrome okwangoku. Nangona kunjalo, kukho unyango oluninzi olusebenzayo olunokunceda ukulawula iimpawu kunye nokunceda umntwana aphile ubomi obusempilweni .

Iqela lezonyango elinyanga umntwana wakho liza kuyila isicwangciso sonyango ngokusekelwe kwiimpawu zomntwana wakho kunye nobunzima bazo. Esi sicwangciso singabandakanya:

• Izixhobo zokuncedisa: Izinto ezifana neeglasi zamehlo okanye izixhobo zokuncedisa ukuva.
• Unyango lokuziphatha okanye lokuthetha .
• Inkxaso yemfundo: Ukubonelela ngenkxaso ekhethekileyo kubantu abaneengxaki zokufunda.
• Amayeza: Amayeza okunyanga iingxaki zentliziyo, ukulawula ukopha, okanye ukuphucula ukukhula kancinci.
• Unyango lwehomoni yokukhula .
• Unyango oluncedisayo: Izinto ezifana nonyango lokucinezela i-lymphedema (ukudumba).

Kwezinye iimeko, ugqirha wakho unokucebisa utyando. Ukuxilongwa kwangoko kubalulekile ukuze unyango lusebenze kakuhle kwaye kulandelelwe.

Liza kuba njani ikamva? Kwaye ngaba oku kungathintelwa?

Le yeyona nto ibalulekileyo. Uninzi lwabantu abane-Noonan syndrome baphila ubomi obusempilweni nobuzimeleyo. Iqela lezonyango lomntwana wakho liza kukunceda ulawule iimpawu zomntwana wakho kwaye uthintele iingxaki.

Ekubeni le meko ibangelwa lutshintsho lwemfuza, akukho nto sinokuyenza ukuyithintela. Nangona kunjalo, ukuba umntu kusapho lwakho une-Noonan syndrome, ungathetha nogqirha wakho malunga novavanyo lwemfuza lwangaphambi kokuzalwa.

Kuqhelekile ukuziva usoyika xa umntwana efumana isifo esifana nesi. Kodwa khumbula, uninzi lwabantwana abane-Noonan syndrome baneempawu ezincinci. Banokuphila ubomi obupheleleyo nobusebenzayo. Ngoko ke thetha nogqirha wakho malunga nonyango olulungele umntwana wakho. Ukuqala unyango kwangethuba kunokunceda umntwana wakho abe neziphumo ezilungileyo zempilo.