Propionic acidemia cuta ce mai matuƙar hatsari wadda ba kasafai ake samunta ba a cikin kwayoyin halitta, wadda ke shafar tsarin jiki da dama, ciki har da kwakwalwa da zuciya. Mafi yawan lokuta ana gano ta ne jim kaɗan bayan haihuwa. Tana shafar mutane 3,000 zuwa 30,000 a Amurka.
Saboda lahani a cikin kwayoyin halitta, jiki ba zai iya sarrafa wasu sassan furotin da mai yadda ya kamata ba. Wannan daga ƙarshe yana haifar da alamun cutar. Idan ba a gano cutar ba kuma ba a yi mata magani a kan lokaci ba, zai iya haifar da suma har ma da mutuwa.
Wannan labarin ya bayyana alamun cutar propionic acidemia da kuma yadda ake gano ta. Ya tattauna maganin wannan cuta, sauran matsalolin lafiya da ke tattare da ita, da kuma cikakken bayani game da tsawon rai na propionic acidemia.
A mafi yawan lokuta, alamun propionic acidemia suna bayyana cikin 'yan kwanaki da haihuwa. Jarirai suna haihuwa cikin koshin lafiya amma nan da nan suna nuna alamun kamar rashin abinci mai gina jiki da raguwar amsawa. Idan ba a gano su ba kuma ba a yi musu magani ba, wasu alamun na iya tasowa.
Ba kasafai ake samun alamun ba, alamun na iya bayyana a lokacin ƙuruciya, samartaka, ko kuma lokacin girma. Propionic acidemia kuma na iya haifar da matsaloli masu ɗorewa, komai lokacin da ya fara.
Propionic acidemia wani "kuskuren metabolism" ne da aka haifa a cikin jiki. Wannan rukuni ne na cututtuka marasa wuya da ke faruwa sakamakon lahani daban-daban na kwayoyin halitta. Suna iya haifar da matsaloli tare da metabolism, tsarin da ake mayar da sinadarai masu gina jiki a cikin abinci zuwa makamashi.
Tsarin narkewar abinci yana faruwa ne ta hanyar jerin halayen sinadarai masu rikitarwa da tsari mai kyau, don haka matsalolin da ke tattare da kwayoyin halitta daban-daban na iya haifar da wasu cikas ga tsarin narkewar abinci na yau da kullun.
Propionic acidemia kuma yana cikin wani ɓangare na waɗannan cututtuka da ake kira organic aciduria. Waɗannan cututtukan kwayoyin halitta suna faruwa ne sakamakon lalacewar metabolism na wasu nau'ikan amino acid (tushen gina furotin) da wasu sassan carbohydrates da fats.
Sakamakon haka, matakan wasu acid da ake samu a jiki na iya fara tashi zuwa matakan da ba su da kyau.
Lalacewar enzymes daban-daban tana haifar da nau'ikan aciduria na halitta daban-daban. Misali, cutar maple syrup wata cuta ce da ba kasafai ake samu ba a wannan rukunin. Ta samo sunanta ne daga ƙamshin da take da shi.
Ana kuma san warin kifi da warin propionic acidemia kuma an danganta shi da ɗaya daga cikin magungunan da yake amfani da su a tsawon rayuwarsa.
Propionic acidemia yana faruwa ne sakamakon lahani a cikin ɗaya daga cikin kwayoyin halitta guda biyu: PCCA ko PCCB. Waɗannan kwayoyin halitta guda biyu suna samar da sassa biyu na wani enzyme da ake kira propionyl-CoA carboxylase (PCC). Ba tare da wannan enzyme ba, jiki ba zai iya sarrafa wasu amino acid da wasu sassan kitse da cholesterol yadda ya kamata ba.
Ba tukuna ba. Masu bincike sun riga sun gano kwayoyin halittar PCCA da PCCB, amma yayin da kimiyya ke ci gaba, sun gano cewa har zuwa maye gurbi 70 na kwayoyin halitta na iya taka rawa. Magani na iya bambanta dangane da maye gurbi, kuma wasu nazarin maganin kwayoyin halitta sun nuna sakamako mai kyau ga magungunan da za a yi nan gaba. A halin yanzu, an fi mai da hankali kan magungunan da ake da su don wannan cuta.
Sauran alamun propionic acidemia na iya haɗawa da matsalolin samar da makamashi saboda rashin aikin metabolism.
Propionic acidemia cuta ce ta kwayoyin halitta ta autosomal recessive. Wannan yana nufin cewa dole ne mutum ya gaji kwayar halittar da abin ya shafa daga iyayensa domin ya kamu da cutar.
Idan ma'aurata suka haifi ɗa da propionic acidemia, akwai yiwuwar kashi 25 cikin ɗari na yaron da ke gaba shi ma ya kamu da cutar. Haka kuma yana da mahimmanci a duba 'yan'uwan da ke akwai waɗanda za su iya samun alamun cutar daga baya. Ganewar cutar da wuri da kuma magani na iya taimakawa wajen hana rikitarwa na dogon lokaci na cutar.
Yin magana da mai ba da shawara kan kwayoyin halitta zai iya zama da amfani sosai ga iyalai da yawa. Wannan zai ba ku damar fahimtar haɗarin da ke tattare da yanayinku. Gwajin kafin haihuwa da zaɓin tayi suma na iya zama zaɓuɓɓuka.
Ganewar cutar propionic acidemia yana buƙatar cikakken tarihi da gwajin jiki, da kuma gwaje-gwajen dakin gwaje-gwaje. Yana da mahimmanci a yi ganewar asali da wuri-wuri, domin waɗanda abin ya shafa galibi suna rashin lafiya sosai.
Nau'o'in matsalolin lafiya daban-daban na iya haifar da mummunan alamun jijiyoyi da sauran alamu da ake gani a cikin propionic acidemia, gami da wasu cututtukan kwayoyin halitta marasa galihu. Ya kamata ƙwararrun ma'aikatan kiwon lafiya su kawar da wasu cututtukan da za a iya gano su ta hanyar rage takamaiman dalilin.
Mutanen da ke fama da propionic acidemia suma suna iya samun matsala a gwaje-gwaje na musamman. Misali, mutanen da ke fama da wannan matsalar suna da yawan sinadarin da ake kira propionylcarnitine.
Bisa ga waɗannan gwaje-gwajen farko, likitoci suna aiki don tabbatar da ganewar asali. Wannan na iya haɗawa da gwaje-gwaje don tantance yadda enzyme na PCC ke aiki. Hakanan ana iya amfani da gwajin kwayoyin halitta na kwayoyin halittar PCCA da PCCB don fayyace ganewar asali.
Wani lokaci ana fara gano jarirai bisa ga sakamakon gwaje-gwajen tantance jarirai na yau da kullun. Duk da haka, ba duk jihohi ko ƙasashe a duniya ake gwada wannan cutar ba. Bugu da ƙari, jarirai na iya nuna alamun kafin a sami sakamakon waɗannan gwaje-gwajen tantancewa.
Ciwon gaggawa da propionic acidemia ke haifarwa gaggawa ce ta lafiya. Ba tare da tallafi ba, mutane na iya mutuwa a lokacin waɗannan abubuwan. Suna iya faruwa kafin a fara gano cutar ko kuma a lokacin damuwa ko rashin lafiya. Waɗannan mutanen suna buƙatar tallafi mai ƙarfi a asibiti.
Mutane masu fama da propionic acidemia suna fuskantar matsaloli da yawa kuma galibi suna da wasu matsalolin lafiya. Misali, cututtukan zuciya da ke tasowa a lokacin ƙuruciya (matsakaicin shekaru 7) shine sanadin mace-mace da yawa. Amma kowane labari na musamman ne. Tare da kulawa mai inganci, mutane da yawa da ke fama da propionic acidemia za su iya rayuwa mai cike da rayuwa mai tsawo. Ƙungiyar ƙwararrun cututtukan kwayoyin halitta da ƙwararrun kiwon lafiya za su iya taimakawa.
Maganin acid na Propionic sau da yawa yakan haifar da matsalar lafiya a cikin 'yan kwanakin farko na rayuwa wanda zai iya zama mai wahala. Tsarin sarrafa abin da ke faruwa na iya ɗaukar lokaci. Yana buƙatar kulawa akai-akai, amma mutane da yawa da ke fama da cutar acid na Propionic suna ci gaba da rayuwa cikakke. Jin daɗin tuntuɓar abokai, dangi, da ma'aikatan lafiya don neman tallafi.
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Marubuci: Ruth Jessen Hickman, MD Ruth Jessen Hickman, MD, marubuciya ce mai zaman kanta ta likitanci da lafiya kuma marubuciyar littattafai da aka buga.