Homocystinuria

Homocystinuria ke lefu la lefutso le amang metabolism ea amino acid methionine. Li-amino acid ke motheo oa bophelo.

Homocystinuria e futsitsoe malapeng e le tšobotsi e fetelletseng ea maikutlo. Sena se bolela hore ngoana o tlameha ho rua kopi e sa sebetseng ea lefutso ho motsoali ka mong hore a amehe hampe.

Homocystinuria e na le likarolo tse 'maloa tse tšoanang le Marfan syndrome, ho kenyeletsoa liphetoho tsa masapo le mahlo.

Masea a sa tsoa tsoaloa a bonahala a phetse hantle. Matšoao a pele, haeba a le teng, ha a bonahale.

Matšoao a ka hlaha ha nts'etsopele e liehile kapa e sa atlehe. Ho eketsa mathata a pono ho ka lebisa tlhokomelong ea boemo bona.

Matšoao a mang a kenyelletsa:

• Ho holofala sefubeng (pectus carinatum, pectus excavatum)
• Fula marameng
• Litšiea tse phahameng tsa maoto
• Bokooa ba kelello
• Kokota mangole
• Maoto a malelele
• Mathata a kelello
• Ho se bone haufi
• Menoana ea spidery (arachnodactyly)
• Bolelele, moaho o mosesane

Mofani oa tlhokomelo ea bophelo a ka hlokomela hore ngoana o molelele ebile o mosesane.

Lipontšo tse ling li kenyelletsa:

• Mokokotlo o kobehileng (scoliosis)
• Ho holofala ha sefuba
• Lense e tlositsoeng ea leihlo

Haeba ho na le pono e fosahetseng kapa e habeli, ngaka ea mahlo (ophthalmologist) e tla etsa tlhahlobo ea mahlo e ntlafalitsoeng ho sheba lense kapa ho bona haufi.

Ho kanna ha ba le nalane ea mali a koetsoeng. Bokooa ba kelello kapa bokuli ba kelello le bona bo a khonahala.

Liteko tse ka laeloang li kenyelletsa tse ling tsa tse latelang:

• Sesebelisoa sa amino acid sa mali le moroto
• Ho etsa liteko tsa lefutso
• Tlhahlobo ea sebete le tlhahlobo ea enzyme
• X-ray ea masapo
• Letlalo la biopsy le setso sa fibroblast
• Teko e tloaelehileng ea ophthalmic

Ha ho na pheko ea homocystinuria. Hoo e ka bang halofo ea batho ba nang le lefu lena ba arabela vithamine B6 (e tsejoang hape e le pyridoxine).

Ba arabelang ba tla hloka ho noa vithamine B6, B9 (folate), le B12 bakeng sa bophelo bohle ba bona. Ba sa arabeleng litlatsong ba tla hloka ho ja lijo tse nang le methionine e tlase. Boholo bo tla hloka ho phekoloa ka trimethylglycine (moriana o tsejoang hape e le betaine).

Ha ho na lijo tse nang le methionine e tlase kapa meriana e tla ntlafatsa bokooa bo seng bo ntse bo le teng. Meriana le lijo li lokela ho behoa leihlo ke ngaka e nang le boiphihlelo ba ho phekola homocystinuria.

Lisebelisoa tsena li ka fana ka tlhaiso-leseling e batsi ka homocystinuria:

• HCU Network America - hcunetworkamerica.org
• Tshupiso ea Lehae la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/homocystinuria

Le ha ho se na pheko ea homocystinuria, kalafo ea vithamine B e ka thusa halofo ea batho ba anngoeng ke boemo bona.

Haeba tlhahlobo e etsoa bongoaneng, ho qala ho ja lijo tse nang le methionine e nyane kapele ho ka thibela bokooa bo bong ba kelello le mathata a mang a lefu lena. Ka lebaka lena, ba bang ba re ba shebile homocystinuria ho masea ohle a sa tsoa tsoaloa.

Batho bao maemo a mali a homocysteine ​​a ntseng a phahama ba kotsing e kholo ea ho koaloa ha mali. Liaparo li ka baka mathata a tebileng a bongaka mme tsa khutsufatsa nako ea bophelo.

Mathata a mangata ka ho fetisisa a hlaha ka lebaka la mali a mali. Likarolo tsena li ka beha bophelo kotsing.

Lilense tse tlositsoeng tsa mahlo li ka senya pono e tebileng. Ho ka hlokahala opereishene e ncha ea lense.

Bokooa ba kelello ke phello e tebileng ea lefu lena. Empa, e ka fokotsoa haeba e ka fumanoa kapele.

Bitsa mofani oa hau haeba uena kapa setho sa lelapa se bontša matšoao a lefu lena, haholo haeba o na le nalane ea lelapa ea homocystinuria.

Ho khothaletsoa tlhabollo ea lefutso ho batho ba nang le nalane ea lelapa ea homocystinuria ba batlang ho ba le bana. Tlhahlobo ea bakhachane ea homocystinuria ea fumaneha. Sena se kenyelletsa ho hlahisa lisele tsa amniotic kapa chorionic villi ho leka cystathionine synthase (enzyme e haellang ho homocystinuria).

Haeba ho na le liphoso tse tsebahalang tsa lefutso ho batsoali kapa ba lelapa, mehlala ea chorionic villus sampling kapa amniocentesis e ka sebelisoa ho leka liphoso tsena.

Khaello ea cystathionine beta-synthase; Khaello ea CBS; HCY

• Pectus e hlahisitsoeng

Schiff M, Blom H. Homocystinuria le hyperhomocysteinemia. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 26th. Philadelphia, PA: Elsevier Saunders; 2020: khaolo ea 198.

Shchelochkov OA, Venditti CP. Methionine. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 103.3.