Ciwon Hartnup

Cutar Hartnup wani yanayi ne na kwayar halitta wanda a cikin sa akwai nakasa a safarar wasu amino acid (kamar su tryptophan da histidine) ta karamin hanji da koda.

Rashin lafiyar Hartnup yanayi ne na rayuwa wanda ya shafi amino acid. Yanayi ne na gado. Wannan yanayin yana faruwa ne saboda maye gurbi a cikin SLC6A19 kwayar halitta Yaro dole ne ya gaji kwafin kwayar cutar da ta lalace daga iyayen biyu don ya sami matsala sosai.

Yanayin yakan fi bayyana tsakanin shekaru 3 zuwa 9.

Yawancin mutane ba sa nuna alamun bayyanar. Idan bayyanar cututtuka ta faru, galibi suna bayyana a yarinta kuma suna iya haɗawa da:

• Gudawa
• Canjin yanayi
• Matsaloli na tsarin jijiyoyi (neurologic), kamar yanayin sautin tsoka da motsi mara motsi
• Ja, fatar fatar fata, yawanci idan fatar ta fallasa zuwa hasken rana
• Hankali ga haske (hotuna)
• Girman jiki

Mai ba da sabis na kiwon lafiya zai ba da umarnin gwajin fitsari don bincika manyan matakan amino acid. Matakan sauran amino acid na iya zama na al'ada.

Mai ba da sabis ɗinku na iya yin gwaji don kwayar halittar da ke haifar da wannan yanayin. Hakanan za'a iya yin oda ga gwajin Biochemical.

Magunguna sun haɗa da:

• Guje wa fitowar rana ta hanyar sanya tufafi masu kariya da amfani da hasken rana tare da abin kariya na 15 ko sama da haka
• Cin abinci mai gina jiki
• Shan kari dauke da nicotinamide
• Yin jurewa game da lafiyar kwakwalwa, kamar shan antidepressants ko masu sanyaya rai, idan yanayi ya canza ko wasu matsaloli na rashin hankalin

Yawancin mutane da ke da wannan cuta na iya tsammanin rayuwarsu ta yau da kullun ba tare da wata nakasa ba. Ba da daɗewa ba, akwai rahotanni game da mummunan tsarin jijiyoyi har ma da mutuwa a cikin iyalai masu wannan matsalar.

A mafi yawan lokuta, babu rikitarwa. Matsalolin lokacin da suka faru na iya haɗawa da:

• Canje-canje a cikin launin fata waɗanda suke dindindin
• Matsalar rashin tabin hankali
• Rash
• Movementsungiyoyin da ba a haɗa su ba

Yawancin lokaci ana iya juyawa alamun cututtuka na jijiyoyi. Koyaya, a cikin al'amuran da ba safai ba zasu iya zama mai tsanani ko barazanar rai.

Kira ga mai ba ku sabis idan kuna da alamun wannan yanayin, musamman ma idan kuna da tarihin iyali na rashin lafiyar Hartnup. Ana ba da shawarar ba da shawara kan kwayar halitta idan kuna da tarihin iyali na wannan yanayin kuma kuna shirin ɗaukar ciki.

Shawarwarin kwayoyin halitta kafin aure da ɗaukar ciki na iya taimakawa hana wasu lamura. Cin abinci mai gina jiki mai gina jiki na iya hana ƙarancin amino acid da ke haifar da bayyanar cututtuka.

Bhutia YD, Ganapathy V. Narkar da furotin da sha. A cikin: Ya ce HM, ed. Ilimin halittar jiki na Cutar Tashin Ciki. Na 6 ed. Philadelphia, PA: Elsevier; 2018: babi na 47.

Gibson KM, Lu'u-lu'u PL. Kuskuren da aka haifa na metabolism da tsarin juyayi. A cikin: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology a cikin Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016: babi na 91.

Kliegman RM, Stanton BF, St. Geme JW, et al. 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.