Homocystinuria

Homocystinuria ndi matenda amtundu omwe amakhudza kagayidwe kake ka amino acid methionine. Ma amino acid ndi omwe amamanga moyo.

Homocystinuria imachokera m'mabanja ngati chikhalidwe chodziyimira payokha. Izi zikutanthauza kuti mwanayo ayenera kulandira cholowa chosagwira ntchito kuchokera kwa kholo lililonse kuti akhudzidwe.

Homocystinuria ili ndi zinthu zingapo zofananira ndi Marfan syndrome, kuphatikiza mafupa ndi kusintha kwa diso.

Makanda obadwa kumene amawoneka athanzi. Zizindikiro zoyambirira, ngati zilipo, sizowonekera.

Zizindikiro zimatha kuchitika ngati kuchepetsedwa pang'ono pang'onopang'ono kapena kulephera kukula. Kuchulukitsa kwamawonekedwe kumatha kudzetsa matendawa.

Zizindikiro zina ndizo:

• Zowonongeka pachifuwa (pectus carinatum, pectus excavatum)
• Yambani masaya
• Mapazi apamwamba a mapazi
• Kulemala kwamaluso
• Gogodani mawondo
• Miyendo yayitali
• Matenda amisala
• Kuyang'ana pafupi
• Zala za Spidery (arachnodactyly)
• Kutalika, kochepa

Wothandizira zaumoyo atha kuwona kuti mwanayo ndi wamtali komanso wowonda.

Zizindikiro zina ndizo:

• Msana wokhotakhota (scoliosis)
• Kupunduka kwa chifuwa
• Magalasi osunthika a diso

Ngati pali kusawona bwino kapena kuwonera kawiri, dokotala wamaso (ophthalmologist) amayesa mayeso owongoleredwa kuti ayang'ane disolo kapena kuyandikira.

Pakhoza kukhala mbiri yamagazi. Kulemala kwamalingaliro kapena matenda amisala ndizothekanso.

Mayeso omwe atha kulamulidwa ndi awa:

• Amino acid chophimba cha magazi ndi mkodzo
• Kuyesedwa kwachibadwa
• Chiwindi cha biopsy ndi enzyme assay
• X-ray ya mafupa
• Khungu lakhungu lokhala ndi chikhalidwe cha fibroblast
• Kuyesedwa kwapadera kwa ophthalmic

Palibe mankhwala a homocystinuria. Pafupifupi theka la anthu omwe ali ndi matendawa amayankha vitamini B6 (yemwenso amadziwika kuti pyridoxine).

Iwo omwe ayankha adzafunika kutenga vitamini B6, B9 (folate), ndi B12 zowonjezerapo moyo wawo wonse. Iwo omwe samayankha mankhwala owonjezera ayenera kudya zakudya zochepa za methionine. Ambiri adzafunika kuthandizidwa ndi trimethylglycine (mankhwala omwe amadziwikanso kuti betaine).

Ngakhale chakudya chotsika kwambiri cha methionine kapena mankhwala sichingathandize kuti munthu akhale wolumala. Mankhwala ndi zakudya ziyenera kuyang'aniridwa mosamala ndi dokotala yemwe akudziwa bwino zochizira homocystinuria.

Izi zitha kukupatsirani zambiri za homocystinuria:

• HCU Network America - hcunetworkamerica.org
• Buku Lofotokozera la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/homocystinuria

Ngakhale kulibe mankhwala a homocystinuria, mankhwala a vitamini B amatha kuthandiza pafupifupi theka la anthu omwe akhudzidwa ndi vutoli.

Ngati matendawa amapezeka ali mwana, kuyamba kudya zakudya zochepa zotchedwa methionine msanga kungalepheretse ena kukhala olumala komanso zovuta zina zamatendawa. Pachifukwa ichi, ena amati amafufuza homocystinuria mwa ana onse obadwa.

Anthu omwe magazi awo amapitilira kuchuluka akukhala pachiwopsezo chachikulu chamagazi. Zofunda zimatha kubweretsa zovuta zamankhwala ndikuchepetsa moyo.

Zovuta kwambiri zimachitika chifukwa chamagazi. Magawo awa atha kukhala owopsa.

Magalasi osunthika amaso amatha kuwononga kwambiri masomphenya. Kuchita opaleshoni m'malo mwa lensi kungafunike.

Kulemala kwamalingaliro ndi zotsatira zoyipa za matendawa. Koma, imatha kuchepetsedwa ikapezeka msanga.

Itanani omwe akukuthandizani ngati inu kapena wachibale wanu akuwonetsa zizindikiro za matendawa, makamaka ngati muli ndi mbiri ya banja la homocystinuria.

Upangiri wamtunduwu umalimbikitsidwa kwa anthu omwe ali ndi mbiri ya banja la homocystinuria omwe akufuna kukhala ndi ana. Matendawa asanabadwe a homocystinuria amapezeka. Izi zimaphatikizapo kupanga ma cell amniotic kapena chorionic villi kuti ayesere cystathionine synthase (enzyme yomwe imasowa mu homocystinuria).

Ngati pali zolakwika zamtundu wa makolo kapena mabanja, zitsanzo kuchokera ku chorionic villus sampling kapena amniocentesis zitha kugwiritsidwa ntchito kuyesa zolakwika izi.

Kusowa kwa cystathionine beta-synthase; Kulephera kwa CBS; HCY

• Pectus excavatum

Schiff M, Blom H. Homocystinuria ndi hyperhomocysteinemia. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier Saunders; 2020: chap 198.

Shchelochkov OA, Venditti CP. Methionine. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 103.3.