Ukuhlolwa kwePezinho: kuyini, kwenziwa nini nokuthi kutholakala ziphi izifo

-Delile

• Kwenziwa kanjani nokuthi kufanele kwenziwe nini isithende
• Izifo ezikhonjwe ukuhlolwa kwesithende
• 1. I-Phenylketonuria
• 2. I-hypothyroidism yokuzalwa
• 3. Sickle cell anemia
• 4. I-hyperplasia yokuzalwa ye-adrenal
• 5. ICystic fibrosis
• 6. Ukushoda kweBiotinidase
• Ukuhlolwa kwezinyawo okunwetshiwe

Ukuhlolwa kwesithende, okwaziwa nangokuthi ukuhlolwa kwe-neonatal, ukuhlolwa okuphoqelekile okwenziwa kuzo zonke izingane ezisanda kuzalwa, imvamisa ngemuva kosuku lwesithathu lokuphila, futhi okusiza ukuxilonga ezinye izifo zofuzo neze-metabolic, ngakho-ke, uma ngabe kukhona ushintsho ikhonjwe, ukwelashwa kungaqalwa ngokushesha ngemuva kwalokho, kugweme izinkinga kanye nokukhuthaza ikhwalithi yempilo yengane.

Isithende esithende sithuthukisa ukuxilongwa kwezifo eziningana, kepha okuyinhloko i-congenital hypothyroidism, i-phenylketonuria, i-sickle cell anemia kanye ne-cystic fibrosis, ngoba zingaletha ubunzima enganeni onyakeni wokuqala wokuphila uma ingaziwa futhi yelashwa.

Kwenziwa kanjani nokuthi kufanele kwenziwe nini isithende

Ukuhlolwa kwesithende kwenziwa ngokuqoqa amaconsi amancane egazi esithendeni somntwana, afakwa ephepheni lokuhlunga bese ethunyelwa elabhorethri ukuyohlaziywa nokuba khona kwezinguquko.

Lokhu kuhlolwa kwenziwa esibhedlela uqobo noma esibhedlela lapho umntwana azalelwa khona, kukhonjiswa kusukela osukwini lwesithathu lokuzalwa kwengane, kepha kungenziwa kuze kube yinyanga yokuqala yokuphila kwengane.

Endabeni yemiphumela emihle, kuthintwa umndeni wengane ukuze kwenziwe izivivinyo ezintsha, eziqonde kakhulu futhi, ngalokho, ukuxilongwa kungaqinisekiswa futhi kuqalwe ukwelashwa okufanele.

Izifo ezikhonjwe ukuhlolwa kwesithende

Ukuhlolwa kwesithende kuyasiza ukukhomba izifo eziningana, okuyizona eziyinhloko:

1. I-Phenylketonuria

I-Phenylketonuria inguquko engavamile yezakhi zofuzo ebonakala ngokunqwabelana kwe-phenylalanine egazini, ngoba i-enzyme ebhekele ukwehlisa i-phenylalanine inomsebenzi wayo oguqukile. Ngakho-ke, ukuqoqwa kwe-phenylalanine, engatholakala ngokwemvelo emaqandeni nasenyameni, ngokwesibonelo, ingaba yingozi enganeni, engathikameza ukukhula kwe-neuronal. Bona okuningi mayelana ne-phenylketonuria.

Ukwelashwa kwenziwa kanjani: Ukwelashwa kwe-phenylketonuria kuqukethe ukulawula nokunciphisa inani lale enzyme egazini futhi, ngenxa yalokhu, kubalulekile ukuthi ingane igweme ukusetshenziswa kokudla okunothe ku-phenylalanine, njengenyama, amaqanda nembewu kawoyela. Njengoba indlela yokudla ingavimbela kakhulu, kubalulekile ukuthi ingane ihambisane nesazi sokudla ukuze kuvinjelwe ukuswela kokudla.

2. I-hypothyroidism yokuzalwa

I-Congenital hypothyroidism yisimo lapho i-thyroid yengane ingeke ikhiqize inani elijwayelekile nelanele lamahomoni, elingaphazamisa ukukhula kwengane, futhi libangele nokuwohloka kwengqondo, ngokwesibonelo. Yazi ukuthi ungazibona kanjani izimpawu zokuzalwa kwe-hypothyroidism.

Ukwelashwa kwenziwa kanjani: Ukwelashwa kwe-hypothyroidism azalwe nakho kuqala ngokushesha nje lapho kutholakala ukuxilongwa futhi kuqukethe ukusetshenziswa kwezidakamizwa ukufaka ama-hormone e-thyroid asezingeni elishintshiwe, ukuze kube nokuqinisekisa ukukhula nokukhula kwengane okunempilo.

3. Sickle cell anemia

I-Sickle cell anemia yinkinga yezofuzo ebonakala ngokushintsha kwesimo samaseli abomvu egazi, kunciphisa amandla okuhambisa i-oxygen ezingxenyeni ezahlukahlukene zomzimba, okungadala ukubambezeleka ekukhuleni kwezinye izitho.

Ukwelashwa kwenziwa kanjani: Ngokuya ngobukhulu besifo, ingane ingadinga ukumpontshelwa igazi ukuze kuthuthwe umoya-mpilo ezithweni kwenzeke ngendlela efanele. Kodwa-ke, ukwelashwa kuyadingeka kuphela lapho kuvela izifo ezifana ne-pneumonia noma i-tonsillitis.

4. I-hyperplasia yokuzalwa ye-adrenal

I-congenital adrenal hyperplasia yisifo esidala ukuthi ingane ibe nokushoda kwamahomoni kwamanye ama-hormone kanye nehaba ekukhiqizeni amanye, okungadala ukukhula ngokweqile, ukuthomba kokuthomba noma ezinye izinkinga zomzimba.

Ukwelashwa kwenziwa kanjani: Ezimweni ezinjalo, kubalulekile ukuthi kukhonjwe ama-hormone aguquliwe ukuze kufakwe i-hormone, futhi ezimweni eziningi kuyadingeka ukwenziwa kuyo yonke impilo.

5. ICystic fibrosis

ICystic fibrosis yinkinga lapho kukhiqizwa khona inqwaba yamafinyila, ifaka engcupheni uhlelo lokuphefumula futhi ithinte namanyikwe, ngakho-ke kubalulekile ukuthi lesi sifo sikhonjwe ekuhlolweni kwezinyawo ukuze kuqale ukwelashwa futhi kungaqalwa. zivinjelwe. Funda ukuthi ungayibona kanjani i-cystic fibrosis.

Ukwelashwa kwenziwa kanjani: Ukwelashwa kwe-cystic fibrosis kubandakanya ukusetshenziswa kwemithi elwa nokuvuvukala, ukondleka okwanele kanye nokwelashwa kokuphefumula ukuqeda izimpawu zesifo, ikakhulukazi ubunzima bokuphefumula.

6. Ukushoda kweBiotinidase

Ukushoda kweBiotinidase kuyinkinga ezalwe nayo edala ukungakwazi komzimba ukusebenzisa kabusha i-biotin, eyi-vitamin ebaluleke kakhulu ukuqinisekisa impilo yohlelo lwezinzwa. Ngakho-ke, izingane ezinale nkinga zingaba nokuquleka, ukuntuleka kokuxhumanisa izimoto, ukubambezeleka kokukhula kanye nokulahleka kwezinwele.

Ukwelashwa kwenziwa kanjani: Ezimweni ezinjalo, udokotela ukhombisa ukuthi kudliwe ivithamini biotin impilo yonke ukukhokhela ukwehluleka komzimba ukusebenzisa le vithamini.

Ukuhlolwa kwezinyawo okunwetshiwe

Ukuhlolwa okwandisiwe kwesithende kwenziwa ngenhloso yokuthola ezinye izifo ezingajwayelekile, kepha lokho kungenzeka ikakhulukazi uma owesifazane eke waba nezinguquko noma ukutheleleka ngesikhathi sokukhulelwa. Ngakho-ke, ukuhlolwa kwesithende okukhulisiwe kungasiza ekuboneni:

• IGalactosemia: izifo ezenza ingane ingakwazi ukugaya ushukela okhona obisini, okungaholela ekukhubazekeni kwesimiso sezinzwa esiyinhloko;
• I-toxoplasmosis yokuzalwa: izifo ezingabulala noma ziholele ekungaboni, i-jaundice eyisikhumba esiphuzi, ukudlikizela noma ukukhubazeka kwengqondo;
• Ukushoda kwe-Glucose-6-phosphate dehydrogenase: kusiza ukubukeka kwama-anemias, angahluka ngamandla;
• Ugcunsula azalwa naso: ukugula okungathi sína okungaholela ekubandakanyeni kwesistimu yezinzwa emaphakathi;
• Ingculaza: izifo eziholela ekukhubazekeni okukhulu kwamasosha omzimba, angakabi nalo ikhambi;
• I-rubella yokuzalwa: kubangela ukukhubazeka okuzalwa njengokuzalwa ngamehlo, ukungezwa, ukukhubazeka kwengqondo kanye nokukhubazeka kwenhliziyo;
• I-herpes engokwemvelo: isifo esingajwayelekile esingadala izilonda zasendaweni esikhunjeni, ulwelwesi lwamafinyila namehlo, noma sisatshalaliswe, sithinte kakhulu uhlelo oluphakathi lwezinzwa;
• Isifo se-cytomegalovirus esizalwe naso: ingakhiqiza ukubalwa kobuchopho kanye nokubambezeleka kwengqondo kanye nezimoto;
• Isifo se-chagas sokuzalwa: isifo esithathelwanayo esingadala ukuwohloka kwengqondo, kwengqondo nokushintsha kwamehlo.

Uma isithende sithola noma yisiphi salezi zifo, ilabhorethri ixhumana nomndeni wengane ngocingo futhi ingane kufanele ihlolwe ngokuqhubekayo ukuqinisekisa lesi sifo noma idluliselwe ekubonisaneni nabezokwelapha abakhethekile. Yazi okunye ukuhlolwa okufanele kwenziwe yingane ngemuva kokuzalwa kwayo.