Phenylketonuria - chiyani komanso mmene kukhala nawo

Matenda, amagwirizana ndi mkhutu kagayidwe wa amino zidulo. Makamaka, phenylalanine. Chifukwa cha zochita matenda kutembenuka asidi izi kwa amino ndi mzake (tyrosine) kuti akusowa anakhumba enzyme ndi mankhwala ake poizoni (phenyl ketone) kudziunjikira mu thupi. Iwo ndi zoipa, makamaka pa wamanjenje dongosolo. Kwenikweni anawamasulira ku Latin - "kukhalapo phenyl ketone mu mkodzo" - ndicho chimene akuti "phenylketonuria". Kodi matenda kagayidwe kachakudya panopa momveka, ndi vuto lagona anomaly chibadwa. Imafalikira mu autosomal unsembe recessive.

Kodi kudwala

Ngati munthu ali ndi chilema jini udindo kupanga enzyme anakhumba, pali phenylketonuria. Kodi zimenezi zikutanthauza ife kumvetsa. Pamene anaika matenda izi? Matendawa zikuoneka alibe kuonekera yomweyo pambuyo pa kubadwa, ana zikuoneka kuti zabwinobwino, anabadwa pa akuti ndi chitukuko yachibadwa. Komabe, pambuyo pake (mu miyezi 2-6) zizindikiro amaoneka:

• ndi backlog chitukuko thupi ndi m'maganizo;
• thukuta anatsindika ndi kukhalapo kwa mtundu wa "mbewa" fungo la mwanayo;
• irritability, tearfulness;
• kusinza kapena ulesi;
• khunyu
• Mwina kusanza.

Komanso, maonekedwe a zotupa (dermatitis, chikanga) kukuonetsedwa phenylketonuria. Ndichiyani ndi momwe izo zikuwoneka ngati wodwala, zikuonekeratu, koma zizindikiro si yeniyeni - ambiri matenda mwina zofanana zizindikiro.

Kodi kudziwa matenda

Ngati dotolo amaganiziridwa matenda zochokera zizindikiro matenda, izo akapatsidwa wina kuchuluka kwa phenylalanine m'magazi.

Komanso mu malo zachipatala anapandukira mkodzo chitsanzo, phenylketonuria Zimenezi apezeke ndi masiku 10-12 zakubadwa. Tsopano zipatala tsiku 3-4 ndi kubadwa kwa mwana wanu amathera mayesero ena mosamala kudziwa matenda kagayidwe kachakudya osiyana. The chiyeso kudwala kumeneku ndi chimodzi mwa iwo. The matenda kawirikawiri matenda phenylketonuria, munthu mwana 8,000 amabadwa ndi izi vuto. Zilipo njira matenda ndi matenda majini: kudziwika masinthidwe jini lolingana.

Kodi kuchiza wodwala

Ife timvetsetsa kuti matenda majini zokhudza matenda monga phenylketonuria. Kodi zikutanthauza chiyani? Pali njira ziwiri za mankhwala anthu ndi akusowa tinatengera kwa enzyme: kubweretsa kale mu L thupi amachotsedwa kudya zinthu zimene chimbudzi, kuloŵerera, wapakatikati kagayidwe amafuna enzyme izi. Pankhani ya matenda pogwiritsa ntchito Baibulo posachedwapa. Odwala mosamalitsa kuchepetsa kadyedwe wa phenylalanine chakudya. Izi zichitike mwamsanga kuteteza sizingasinthe ubongo kuledzera. Chakudya ntchito yapadera mapuloteni osakaniza popanda phenylalanine, kukwaniritsa chosowa mapuloteni.

Yopangidwa ndi njira chithandizo pa njira zosiyana - kumayambiriro wogwirizira masamba enzyme. Komanso anayesedwa ano mankhwala majini njira: powapatsa jini kulamulira ulimi wa enzyme chosowacho.