Teko ea Pezinho: ke eng, e etsoa neng le hore na e fumana mafu afe

Litaba

• E etsoa joang le hore na e etsoa neng
• Maloetse a khetholloang ke teko ea serethe
• 1. Phenylketonuria
• 2. Congenital hypothyroidism
• 3. Sickle cell anemia
• 4. Congenital adrenal hyperplasia
• 5. Leqhubu la cystic fibrosis
• 6. Ho haella ha Biotinidase
• Teko ea maoto e atolositsoeng

Teko ea serethe, e tsejoang hape e le ho hlahloba masea, ke tlhatlhobo e tlamang e etsoang ho masea ohle a sa tsoa tsoaloa, hangata kamora letsatsi la boraro la bophelo, mme e thusang ho fumana mafu a mang a liphatsa tsa lefutso le a ts'oaetso, mme ka hona haeba ho na le liphetoho kalafo e ka qalisoa hang kamora moo, ho qoba mathata le ho khothaletsa boleng ba bophelo ba ngoana.

Serethe se khothalletsa ho fumanoa ha mafu a 'maloa, leha ho le joalo a maholo ke a congenital hypothyroidism, phenylketonuria, sickle cell anemia le cystic fibrosis, hobane li ka tlisa mathata ho lesea selemong sa pele sa bophelo haeba li sa tsejoe le ho phekoloa.

E etsoa joang le hore na e etsoa neng

Teko ea serethe e etsoa ka ho bokella marotholi a manyane a mali seretheng sa lesea, a behiloeng pampiring ea sefa ebe a romelloa laboratoring bakeng sa tlhahlobo le boteng ba liphetoho.

Teko ena e etsoa sepetleleng sa bakhachane kapa sepetlele moo ngoana a hlahetseng teng, ho bontšoa ho tloha letsatsing la boraro la bophelo ba ngoana, leha ho le joalo e ka etsoa ho fihlela khoeling ea pele ea bophelo ba ngoana.

Tabeng ea liphetho tse ntle, ho koptjoa lelapa la lesea e le hore ho ka etsoa liteko tse ncha tse tobileng mme, ka hona, tlhahlobo e ka netefatsoa mme kalafo e nepahetseng e qaliloe.

Maloetse a khetholloang ke teko ea serethe

Teko ea serethe e bohlokoa ho khetholla maloetse a 'maloa, a maholo ke:

1. Phenylketonuria

Phenylketonuria ke phetoho e sa tloaelehang ea liphatsa tsa lefutso e khetholloang ke ho bokella phenylalanine maling, hobane enzyme e ikarabellang bakeng sa ho nyenyefatsa phenylalanine e na le ts'ebetso ea eona e fetotsoeng. Kahoo, pokello ea phenylalanine, e ka fumanoang ka tlhaho mahe le nama, mohlala, e ka ba chefo ho ngoana, e ka sitisang kholo ea methapo. Bona ho eketsehileng ka phenylketonuria.

Kalafo e etsoa joang? Kalafo ea phenylketonuria e na le taolo le phokotso ea enzyme ena e maling mme, ho sena, ho bohlokoa hore ngoana a qobe ts'ebeliso ea lijo tse nang le phenylalanine, joalo ka nama, mahe le peo ea oli. Kaha lijo li ka ba thata haholo, ho bohlokoa hore ngoana a felehelletsoe ke setsebi sa phepo ho thibela khaello ea phepo e nepahetseng.

2. Congenital hypothyroidism

Congenital hypothyroidism ke boemo boo qoqotho ea lesea e ke keng ea hlahisa lihormone tse tloaelehileng le tse lekaneng, tse ka sitisang kholo ea ngoana, hape tsa baka kholofalo ea kelello, mohlala. Tseba ho tseba matšoao a congenital hypothyroidism.

Kalafo e etsoa joang? Kalafo ea congenital hypothyroidism e qala hang ha ts'oaetso e etsoa mme e sebelisa ts'ebeliso ea lithethefatsi ho khutlisa lihormone tsa qoqotho tse seng li fetotsoe, molemong oa ho netefatsa kholo le kholo ea ngoana.

3. Sickle cell anemia

Sickle cell anemia ke bothata ba lefutso bo khetholloang ke liphetoho sebopehong sa lisele tse khubelu tsa mali, ho fokotsa bokhoni ba ho tsamaisa oksijene likarolong tse fapaneng tsa 'mele, tse ka bakang tieho kholisong ea litho tse ling.

Kalafo e etsoa joang? Ho latela boholo ba lefu lena, ngoana a ka hloka ho tšeloa mali molemong oa ho tsamaisa oksijene lithong ho etsahala hantle. Leha ho le joalo, kalafo e hlokahala feela ha tšoaetso e kang pneumonia kapa tonsillitis e hlaha.

4. Congenital adrenal hyperplasia

Congenital adrenal hyperplasia ke lefu le etsang hore ngoana a haelloe ke lihormone lihormonng tse ling le pheteletso ho hlahiseng tse ling, tse ka bakang ho tlola, ho kena bohlankaneng kapa boroetsaneng kapa mathata a mang a mmele.

Kalafo e etsoa joang? Maemong a joalo, ho bohlokoa hore li-hormone tse fetotsoeng li khetholloe e le hore phetoho ea lihormone e etsoe, 'me maemong a mangata ho hlokahala hore e etsoe bophelo bohle.

5. Leqhubu la cystic fibrosis

Cystic fibrosis ke bothata boo ho hlahisoang mamina a mangata, a sitisang tsamaiso ea ho hema hape a amang manyeme, ka hona ho bohlokoa hore lefu lena le tsejoe tekong ea maoto e le hore kalafo e ka qalisoa le ho qalisoa. lia thibeloa. Ithute ho khetholla cystic fibrosis.

Kalafo e etsoa joang? Kalafo ea cystic fibrosis e kenyelletsa ts'ebeliso ea lithethefatsi tse khahlano le ho ruruha, phepo e lekaneng le kalafo ea ho hema ho kokobetsa matšoao a lefu lena, haholo bothata ba ho hema.

6. Ho haella ha Biotinidase

Khaello ea biotinidase ke bothata ba tlhaho bo bakang ho sitoa ha mmele ho nchafatsa biotin, e leng vithamine ea bohlokoa haholo ho netefatsa bophelo bo botle ba sistimi ea methapo. Kahoo, masea a nang le bothata bona a kanna a oa, a hloka tšebelisano ea makoloi, a lieha ho hola le ho lahleheloa ke moriri.

Kalafo e etsoa joang? Maemong a joalo, ngaka e supa ho noa vithamine biotin bophelo bohle ho lefella ho sitoa ha 'mele ho sebelisa vithamine ena.

Teko ea maoto e atolositsoeng

Teko e atolositsoeng ea serethe e etsoa ka sepheo sa ho supa mafu a mang a sa tloaelehang khafetsa, empa ho ka etsahala haholoholo haeba mosali a bile le liphetoho kapa tšoaetso nakong ea bokhachane. Kahoo, teko e atolositsoeng ea serethe e ka thusa ho khetholla:

• Galactosemia: lefu le etsang hore ngoana a sitoe ho sila tsoekere e teng lebeseng, e ka lebisang ho senyeheng ha methapo ea methapo;
• Toxoplasmosis ea tlhaho: Boloetse bo ka bolaeang kapa ba lebisa bofofu, lerootho le letlalo le bosehla, ho tsitsipana kapa ho holofala kelellong;
• Khaello ea Glucose-6-phosphate dehydrogenase: e thusa ho hlaha ha li-anemias, tse ka fapaneng ka matla;
• Sesepa sa tlhaho: bokuli bo tebileng bo ka lebisang ho ameheng ha methapo ea methapo e bohareng;
• AIDS: Boloetse bo lebisang ho senyeheng ho tebileng ha sesole sa 'mele, se ntseng se sena pheko;
• Tsoalo ea rubella: e baka mathata a tsoalo a kang leihlo, ho se utloe, ho holofala kelellong esita le ho holofala ha pelo;
• Herpes ea tlhaho: lefu le sa tloaelehang le ka bakang liso tsa sebakeng seo letlalong, lera la mahlo le mahlo, kapa la phatlalatsoa, ​​le ama tsamaiso e kholo ea methapo;
• Lefu la Congenital cytomegalovirus: e ka hlahisa lipalo tsa boko le phokotso ea kelello le makoloi;
• Boloetse ba tlhaho ea tlhaho: lefu le tšoaetsanoang le ka bakang ho holofala kelellong, psychomotor le liphetoho tsa mahlo.

Haeba sehlaba sa serethe se fumana a mang a mafu ana, laboratori e ikopanya le ba lelapa la ngoana ka mohala mme lesea le tlameha ho etsa liteko tse ling ho netefatsa lefu lena kapa le isoa lipuisanong tse khethehileng tsa bongaka. Tseba liteko tse ling tseo ngoana a lokelang ho li etsa kamora ho hlaha.