Rashin daidaiton urea sake zagayowar

Rashin haɗarin urea sake zagayowar yanayi yanayin gado ne. Yana iya haifar da matsala tare da cire sharar daga jiki a cikin fitsari.

Tsarin urea tsari ne wanda ake cire sharar (ammoniya) daga jiki. Lokacin da kuka ci sunadarai, jiki yakan rarraba su cikin amino acid. Ammonia ana samunta ne daga ragowar amino acid, kuma dole ne a cire shi daga jiki.

Hanta tana samar da sinadarai da yawa (enzymes) wadanda suke canza ammoniya zuwa wani nau'i da ake kira urea, wanda jiki zai iya cire shi a cikin fitsarin. Idan wannan matsalar ta rikice, matakan ammoniya zasu fara tashi.

Yanayi da yawa na gado na iya haifar da matsaloli tare da wannan aikin cire shara. Mutanen da ke fama da matsalar rashin fitsarin fitsari suna da nakasar kwayar halitta wacce ke sanya enzymes da ake buƙata don lalata ammoniya a jiki.

Wadannan cututtukan sun hada da:

• Argininosuccinic aciduria
• Rashin arginase
• Carbamyl phosphate synthetase (CPS) rashi
• Citrullinemia
• N-acetyl glutamate synthetase (NAGS) rashi
• Ornithine transcarbamylase (OTC) rashi

A zaman ƙungiya, waɗannan rikice-rikicen suna faruwa ne a cikin 1 cikin jarirai dubu 30,000. Rashin OTC shine mafi yawan waɗannan rikice-rikice.

Samari sun fi kamuwa da karancin OTC fiye da 'yan mata. 'Yan mata ba safai abin ya shafa ba. Waɗannan girlsan matan da abin ya shafa suna da alamun rashin lafiya kuma suna iya kamuwa da cutar daga baya.

Don samun wasu nau'ikan cututtukan, kuna buƙatar karɓar kwafin da ba ya aiki daga asalin daga iyayen biyu. Wani lokaci iyaye ba su san suna ɗaukar kwayar halitta ba har sai yaronsu ya kamu da cutar.

Yawanci, jariri yana farawa jinya da kyau kuma yana da alama al'ada. Koyaya, bayan wani lokaci jariri ya kan fara samun abinci mara kyau, amai, da kuma bacci, wanda ƙila yana da zurfin da ba zai iya farkawa daga yaron ba. Wannan galibi yakan faru ne a cikin makon farko bayan haihuwa.

Kwayar cutar sun hada da:

• Rikicewa
• Rage cin abinci
• Likeaunar abincin da ke dauke da furotin
• Sleepara yawan bacci, wahalar tashi
• Tashin zuciya, amai

Mai ba da sabis na kiwon lafiya zai binciko waɗannan rikice-rikicen yayin da yaron har yanzu jariri ne.

Alamomin na iya haɗawa da:

• Rashin amino acid a cikin jini da fitsari
• Matsanancin matakan orotic acid a cikin jini ko fitsari
• Babban jinin ammoniya
• Matsayi na al'ada na acid a cikin jini

Gwaje-gwaje na iya haɗawa da:

• Gas na jini na jini
• Ammonia na jini
• Glucosewar jini
• Amino acid din Plasma
• Fitsari kwayoyin acid
• Gwajin kwayoyin halitta
• Gwajin hanta
• MRI ko CT scan

Iyakance furotin a cikin abinci na iya taimakawa magance waɗannan rikice-rikice ta rage rage yawan sharar nitrogen da jiki ke samarwa. (Sharar tana cikin sifar ammoniya.) Akwai wadatattun hanyoyin samar da jarirai da kananan yara.

Yana da mahimmanci mai bayarwa ya jagoranci cin abincin furotin. Mai bayarwa zai iya daidaita adadin furotin da jariri ya samu don ya isa girma, amma bai isa ya haifar da alamun ba.

Yana da matukar mahimmanci ga masu wannan larurar su guji yin azumi.

Dole ne mutanen da ba su da matsala a cikin urea su ma su yi taka-tsantsan a lokacin da suke cikin damuwa na zahiri, kamar lokacin da suke da cuta. Danniya, kamar zazzabi, na iya haifar da jiki ya lalata furotin nasa. Wadannan karin sunadaran na iya wahalar da zagayowar urea mara kyau don cire kayan aikin.

Irƙira shiri tare da mai ba ku sabis don lokacin da ba ku da lafiya don kauce wa duk furotin, ku sha manyan abubuwan sha na carbohydrate, kuma ku sami isassun ruwaye.

Yawancin mutane da ke fama da rikicewar zagayen urea za su buƙaci zama a asibiti a wani lokaci. A lokacin irin wannan lokutan, za a iya yi musu magani da magunguna waɗanda ke taimakawa jiki cire ƙwayoyin da ke dauke da nitrogen. Dialysis na iya taimakawa kawar da yawan ammoniya a lokacin rashin lafiya mai tsanani. Wasu mutane na iya buƙatar dashen hanta.

RareConnect: Urea Cycle Disorder Official Community - www.rareconnect.org/en/community/urea-cycle-disorders

Yadda mutane suke yi ya dogara da:

• Wace cuta mara zagayowar urea suke da ita
• Yaya tsananin yake
• Yaya aka gano shi da wuri
• Yaya yadda suke bin tsarin abinci mai ƙayyade gina jiki

Jarirai da aka binciko a makon farko na rayuwa kuma suka sanya abinci mai ƙayyade furotin yanzunnan na iya yin kyau.

Manne wa abincin na iya haifar da hankali na manya. Maimaitawa ba bin abincin ba ko samun alamun damuwa da ke haifar da damuwa na iya haifar da kumburin kwakwalwa da lalacewar kwakwalwa.

Babban damuwa, kamar tiyata ko haɗari, na iya zama mai rikitarwa ga mutanen da ke wannan yanayin. Ana buƙatar cikakken kulawa don kauce wa matsaloli a lokacin waɗannan lokuta.

Matsaloli na iya haɗawa da:

• Coma
• Rikicewa da ƙarshe rikicewa
• Mutuwa
• Inara yawan jini ammoniya
• Kumburin kwakwalwa

Akwai gwajin haihuwa. Ana iya yin gwajin kwayar halitta kafin a dasa amfrayo ga wadanda ke amfani da in vitro idan aka san takamaiman dalilin kwayoyin.

Masanin ilimin abinci yana da mahimmanci don taimakawa tsarawa da sabunta ƙayyadadden tsarin abinci mai gina jiki yayin yaro ya girma.

Kamar yadda yake da yawancin cututtukan da aka gada, babu yadda za ayi a hana waɗannan rikice-rikice ci gaba bayan haihuwa.

Yin aiki tare tsakanin iyaye, ƙungiyar likitanci, da yaron da abin ya shafa don bin tsarin abincin da aka ba su na iya taimakawa hana cutar mai tsanani.

Abubuwa mara kyau na zagayar urea - gado; Urea sake zagayowar - rashin lafiyar gado

• Urea sake zagayowar

Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Laifi a cikin metabolism na amino acid. 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.

Konczal LL, Zinn AB. Kuskuren da aka haifa na metabolism. A cikin: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff da Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020: babi na 90.

Nagamani SCS, Lichter-Konecki U. Kuskuren da aka haifa na urea kira. A cikin: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Neurology na Yara: Ka'idoji da Ayyuka. Na 6 ed. Philadelphia, PA: Elsevier; 2017: babi na 38.