Menene gangliosidosis, bayyanar cututtuka da magani

Wadatacce

• Babban bayyanar cututtuka
• Yadda ake ganewar asali
• Jiyya na gangliosidosis

Gangliosidosis cuta ce mai saurin yaduwa wacce ake alakanta ta da raguwa ko rashi aikin beta-galactosidase enzyme, wanda ke da alhakin lalacewar ƙwayoyin cuta masu rikitarwa, wanda ke haifar da haɗuwarsu a cikin kwakwalwa da sauran gabobin.

Wannan cuta tana da tsanani musamman lokacin da ta bayyana a farkon shekarun rayuwa kuma ana yin binciken ne bisa alamomin da halaye da mutum ya gabatar, da kuma sakamakon gwaje-gwajen da suka nuna aikin beta-galactosidase enzyme da kuma kasancewar na maye gurbi a cikin kwayar GBL1, wanda ke da alhakin tsara aikin wannan enzyme.

Babban bayyanar cututtuka

Kwayar cututtukan gangliosidosis sun bambanta gwargwadon shekarun da suka bayyana, kuma ana daukar cutar da sauki yayin da alamun suka bayyana tsakanin shekarun 20 zuwa 30:

• Rubuta I ko jarirai gangliosidosis: Kwayar cututtukan suna bayyana kafin watanni 6 da haihuwa kuma ana nuna su da lalacewar jijiyoyin ci gaba, rashin ji da makanta a gaba, raunin tsokoki, ƙwarewa ga hayaniya, faɗaɗa hanta da baƙin ciki, nakasar ilimi, babban fuska da canjin zuciya, misali. Saboda yawancin alamun bayyanar da za a iya haɓaka, ana ɗaukar wannan nau'in gangliosidosis a matsayin mafi tsanani kuma tsawon rai shine 2 zuwa 3 shekaru;
• Gangliosidosis nau'in II: Wannan nau'in gangliosidosis ana iya sanya shi azaman mara-haihuwa, lokacin da alamomi suka bayyana tsakanin shekara 1 zuwa 3, ko yara, lokacin da suka bayyana tsakanin shekaru 3 da 10. Babban alamun wannan nau'in na gangliosidosis sun jinkirta ko motsawa mai motsi da haɓaka haɓaka, atrophy na kwakwalwa da canje-canje a hangen nesa. Gangliosidosis type II ana ɗaukarta mai tsananin matsakaici kuma tsawon rai ya bambanta tsakanin shekaru 5 da 10;
• Gangliosidosis type II ko babba: Kwayar cututtukan na iya bayyana daga shekara 10, duk da cewa ya fi bayyana tsakanin shekaru 20 zuwa 30, kuma ana yin ta ne da karfin jijiyoyi ba tare da son rai ba da canjin kashin kashin baya, wanda hakan na iya haifar da kyphosis ko scoliosis, misali . Wannan nau'in gangliosidosis ana ɗaukarsa mai taushi, amma tsananin alamun yana iya bambanta gwargwadon aikin enzyme beta-galactosidase.

Gangliosidosis shine cututtukan cututtukan cututtukan cututtukan mutum, wanda shine, don mutumin da ya gabatar da cutar, ya zama dole iyayensu su kasance aƙalla masu ɗauke da kwayar halittar maye gurbin. Don haka, akwai damar 25% na mutumin da aka haifa tare da maye gurbi a cikin kwayar GBL1 kuma kashi 50% na mutumin yana ɗaukar jigilar.

Yadda ake ganewar asali

Ganewar cutar ta gangliosidosis ana yin ta ne ta hanyar tantance halayen asibiti da mutum ya gabatar, kamar su fuska mai girma, fadada hanta da hanta, jinkirin psychomotor da sauyin gani, alal misali, wadanda suka fi saurin bayyana a farkon matakan cuta.

Bugu da ƙari, ana yin gwaje-gwaje don taimakawa tabbatar da ganewar asali, kamar su hotunan jijiyoyin jiki, ƙididdigar jini, inda ake lura da kasancewar ƙwayoyin lymphocytes tare da tsinkaye, gwajin fitsari, wanda a ciki ne ake gano yawan ƙwayoyin oligosaccharides a cikin fitsarin, kuma ana samun kwayar halitta gwaji, wanda ke nufin gano maye gurbi da ke haifar da cutar.

Hakanan za'a iya yin binciken asali yayin daukar ciki ta hanyar gwajin kwayoyin halitta ta amfani da kwayar villus ko kuma kwayoyin halittar ruwan ciki. Idan wannan gwajin ya tabbata, yana da mahimmanci a yiwa dangi jagoranci game da alamomin da yaro zai iya haɓaka a tsawon rayuwarsa.

Jiyya na gangliosidosis

Saboda karancin mitar wannan cuta, har zuwa yanzu babu ingantaccen magani, tare da sarrafa alamomin, kamar wadataccen abinci mai gina jiki, sa ido kan ci gaban, maganin magana da kuma ilimin motsa jiki don motsa motsi da magana.

Bugu da kari, ana yin gwaje-gwajen ido na lokaci-lokaci da sa ido kan hatsarin kamuwa da cututtukan zuciya.