Ukunyanga amalungu omzimba

IHomocystinuria sisifo semfuza esichaphazela imetabolism ye-amino acid methionine. Ii-amino acid ziibhloko zokwakha zobomi.

I-Homocystinuria ifunyanwa njengelifa kwiintsapho njengophawu lwe-autosomal. Oku kuthetha ukuba umntwana kufuneka azuze ikopi engasebenziyo yemfuza kumzali ngamnye ukuze achaphazeleke ngamandla.

IHomocystinuria inezinto ezininzi ezifanayo ne-Marfan syndrome, kubandakanya utshintsho lwamathambo kunye neliso.

Iintsana ezisandul 'ukuzalwa zibonakala ziphilile. Iimpawu zokuqala, ukuba zikhona, azicacanga.

Iimpawu zinokwenzeka njengokulibaziseka kancinci kophuhliso okanye ukusilela ukukhula. Ukunyusa iingxaki ezibonakalayo kunokubangela ukuxilongwa kwale meko.

Ezinye iimpawu zibandakanya:

• Ukukhubazeka kwesifuba (pectus carinatum, pectus excavatum)
• Gcoba izidlele
• Iingqameko eziphakamileyo zeenyawo
• Ukukhubazeka kwengqondo
• Nkqonkqoza amadolo
• Imilenze emide
• Ukuphazamiseka kwengqondo
• Ukubona ngaphambili
• Iminwe ye-Spidery (arachnodactyly)
• Ukude, ukwakha okuncinci

Umboneleli wezempilo unokuqaphela ukuba umntwana mde kwaye ubhityile.

Ezinye iimpawu zibandakanya:

• Umqolo ogobileyo (scoliosis)
• Ukukhubazeka kwesifuba
• Iilensi ezikhutshiweyo zelihlo

Ukuba kukho umbono ombi okanye ophindwe kabini, ugqirha wamehlo (ophthalmologist) uya kwenza uvavanyo lwamehlo olucociweyo ukukhangela ukususwa kwelensi okanye ukubona kufutshane.

Kunokubakho imbali yamahlwili egazi. Ukukhubazeka kwengqondo okanye ukugula kwengqondo kunokwenzeka.

Uvavanyo olunoku-odolwa lubandakanya nayiphi na kwezi zilandelayo:

• Isikrini se-Amino acid yegazi kunye nomchamo
• Uvavanyo lwemfuzo
• I-biopsy yesibindi kunye ne-enzyme assay
• X-reyi yamathambo
• Ulusu lwe-biopsy kunye nenkcubeko ye-fibroblast
• Uvavanyo oluqhelekileyo lwamehlo

Akukho lonyango lwe-homocystinuria. Phantse isiqingatha sabantu abanesi sifo baphendula kwivithamini B6 (ekwabizwa ngokuba yi-pyridoxine).

Abo baphendulayo baya kufuna ukuthatha i-vitamin B6, i-B9 (folate), kunye ne-B12 yokuncedisa ubomi babo bonke. Abo bangaphenduliyo kwizongezo baya kufuna ukutya ukutya okuphantsi-methionine. Uninzi luya kufuna ukunyangwa nge-trimethylglycine (iyeza elaziwa ngokuba yi-betaine).

Nokuba ukutya okune-methionine esezantsi okanye amayeza akunakuphucula ukukhubazeka kwengqondo okukhoyo ngoku. Amayeza kunye nokutya kufuneka kubekwe esweni ngugqirha onamava okunyanga i-homocystinuria.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya malunga ne-homocystinuria:

• Inethiwekhi yeHCU eMelika- hcunetworkamerica.org
• Isalathiso sasekhaya se-NIH / NLM yemfuzo - ghr.nlm.nih.gov/condition/homocystinuria

Nangona lungekho unyango lwe-homocystinuria, unyango lwe-vitamin B lunokunceda malunga nesiqingatha sabantu abachaphazelekayo yile meko.

Ukuba isifo senziwe ebuntwaneni, ukuqala ukutya okuncinci kwe-methionine ngokukhawuleza kunokuthintela ukukhubazeka kwengqondo kunye nezinye iingxaki zesifo. Ngesi sizathu, abanye bathi isikrini se-homocystinuria kubo bonke abantwana abasandul 'ukuzalwa.

Abantu abanamanqanaba egazi e-homocysteine ​​aqhubeka nokunyuka basemngciphekweni wokonyuka kwamagazi. Amagqabi anokubangela iingxaki zonyango kwaye anciphise ixesha lokuphila.

Uninzi lweengxaki ezinzulu zenzeka ngenxa yegazi. Ezi ziqendu zingasongela ubomi.

Iilensi ezikhutshiweyo zamehlo zingonakalisa kakhulu umbono. Unyango olwenziwa endaweni yelensi kunokufuneka.

Ukukhubazeka kwengqondo sisiphumo esibi sesi sifo. Kodwa, inokuncitshiswa ukuba ifunyaniswe kwangethuba.

Tsalela umnikezeli wakho ukuba wena okanye ilungu losapho libonisa iimpawu zolu phazamiso, ngakumbi ukuba unembali yosapho ye-homocystinuria.

Ukucebisa ngemfuza kuyacetyiswa kubantu abanembali yosapho ye-homocystinuria abafuna ukuba nabantwana. Ukuxilongwa kwangaphambili kokubeleka kwe-homocystinuria kuyafumaneka. Oku kubandakanya ukukhulisa iiseli ze-amniotic okanye i-chorionic villi yokuvavanya i-cystathionine synthase (i-enzyme elahlekileyo kwi-homocystinuria).

Ukuba kukho iziphene zofuzo ezaziwayo kubazali okanye kusapho, iisampulu ezivela kwisampulu ye-chorionic villus okanye i-amniocentesis zinokusetyenziselwa ukuvavanya ezi ziphene.

Ukusilela kwe-cystathionine beta-synthase; Ukusilela kwe-CBS; HCY

• I-Pectus excavatum

I-Schiff M, i-Blom H. Homocystinuria kunye ne-hyperhomocysteinemia. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier Saunders; 2020: isahl. 198.

ISchechelochkov OA, iVenditti CP. Imethionine. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.3.