Homocystinuria

Homocystinuria cuta ce ta kwayar halitta wacce ke shafar metabolism na amino acid methionine. Amino acid sune tubalin ginin rayuwa.

An gaji Homocystinuria a cikin iyalai azaman yanayin haɓakar autosomal. Wannan yana nufin cewa dole ne yaro ya gaji kwafin halittar da ba ya aiki daga kowane mahaifa don abin ya shafa da gaske.

Homocystinuria yana da fasali da yawa iri ɗaya tare da cutar Marfan, gami da kwarangwal da canjin ido.

Sabbin jarirai sun bayyana cikin koshin lafiya. Bayyanan cututtukan farko, idan sun kasance, ba bayyane bane.

Kwayar cututtukan cututtuka na iya faruwa kamar jinkirta jinkiri ci gaba ko gazawar bunƙasa. Problemsara matsalolin gani na iya haifar da ganewar asali na wannan yanayin.

Sauran cututtukan sun hada da:

• Lalacewar kirji (pectus carinatum, pectus excavatum)
• Tafasa a gefen kumatu
• Babban baka na ƙafa
• Rashin hankali
• Buga gwiwoyi
• Dogayen gabobi
• Rashin hankali
• Dubawa
• Yatsun Spidery (arachnodactyly)
• Dogaye, sirara gini

Mai kula da lafiyar na iya lura cewa yaron dogo ne kuma siriri.

Sauran alamun sun hada da:

• Mai lankwasa kashin baya (scoliosis)
• Lalacewar kirji
• Rarrabe ruwan tabarau na ido

Idan akwai rashin kyau ko gani biyu, likitan ido (likitan ido) zai yi gwajin faɗaɗa ido don neman ɓar da tabarau ko hangen nesa.

Za a iya samun tarihin daskarewar jini. Rashin ikon tunani ko rashin tabin hankali ma yana yiwuwa.

Gwajin da za'a iya yin oda ya haɗa da ɗayan masu zuwa:

• Allon amino acid na jini da fitsari
• Gwajin kwayoyin halitta
• Harshen biopsy da gwajin enzyme
• Kwarangwal x-ray
• Biopsy na fata tare da al'adun fibroblast
• Gwajin ophthalmic na yau da kullun

Babu magani ga homocystinuria. Kimanin rabin mutanen da ke fama da cutar suna amsa ga bitamin B6 (wanda aka fi sani da pyridoxine).

Wadanda suka amsa zasu buƙaci shan bitamin B6, B9 (folate), da B12 kari na sauran rayuwarsu. Wadanda basu amsa kari zasu bukaci cin abinci mai karamin methionine. Yawancin za su buƙaci a bi da su tare da trimethylglycine (magani wanda aka fi sani da betaine).

Babu cin abinci mai ƙananan methionine ko magani wanda zai inganta ƙarancin ilimin ilimi. Magani da abinci yakamata likitan ya lura dasu sosai wanda yake da masaniyar maganin homocystinuria.

Waɗannan albarkatun na iya samar da ƙarin bayani game da homocystinuria:

• HCU Network America - hcunetworkamerica.org
• NIH / NLM Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/homocystinuria

Kodayake babu magani don homocystinuria, maganin bitamin B na iya taimakawa kusan rabin mutanen da yanayin ya shafa.

Idan aka gano cutar a lokacin yarinta, fara abinci mai ƙananan methionine da sauri na iya hana wasu nakasuwar hankali da sauran rikicewar cutar. A saboda wannan dalili, wasu jihohi suna binciken homocystinuria a cikin dukkan jarirai.

Mutanen da matakan homocysteine ​​na jini ke ci gaba da tashi suna cikin haɗarin haɗarin jini. Makirci na iya haifar da mummunan matsalolin likita da rage tsawon rai.

Yawancin rikitarwa masu tsanani suna faruwa ne saboda daskarewar jini. Waɗannan abubuwan na iya zama barazanar rai.

Rarragen ruwan tabarau na idanu na iya lalata gani sosai. Ana iya buƙatar tiyata maye gurbin tabarau.

Rashin hankali na hankali mummunan sakamako ne na cutar. Amma, ana iya rage shi idan aka gano shi da wuri.

Kira mai ba ku sabis idan ku ko dangin ku sun nuna alamun wannan cuta, musamman idan kuna da tarihin iyali na homocystinuria.

Ana ba da shawara game da kwayar halitta don mutanen da ke da tarihin iyali na homocystinuria waɗanda suke son haihuwar yara. Samun ciki na haihuwa na homocystinuria yana nan. Wannan ya haɗa da haɓaka ƙwayoyin amniotic ko villi chorionic don gwada cystathionine synthase (enzyme ɗin da ya ɓace a cikin homocystinuria).

Idan akwai sanannun lalatattun larura a cikin iyaye ko dangi, za'a iya amfani da samfura daga samfurin chorionic villus ko amniocentesis don gwada waɗannan lahani.

Cystathionine beta-synthase rashi; Rashin CBS; HCY

• Pectus excavatum

Schiff M, Blom H. Homocystinuria da hyperhomocysteinemia. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 26th ed. Philadelphia, PA: Elsevier Saunders; 2020: babi 198.

Shchelochkov OA, Venditti CP. Methionine. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 103.3.