Cutar Pompe ita ce sunan da aka saba bayarwa ga "nau'in II glycogenosis (GSD II)".

Wannan nau'in cutar tana da alaƙa da haɗarin haɗarin glycogen a cikin kyallen takarda.

Wannan glycogen shine polymer na glucose. Yana da carbohydrate wanda aka samo shi daga dogayen sarƙoƙi na ƙwayoyin glucose, yana samar da babban kantin glucose a cikin jiki don haka ya zama babban tushen kuzari ga mutane.

Akwai nau'ikan cututtuka daban -daban dangane da alamomin da ƙwayoyin sunadarai da ke cikin kyallen takarda. Ana tsammanin wasu enzymes suna da alhakin wannan haɓakar haɗuwar glycogen. Waɗannan sun haɗa da glucose 6-phosphatase, A cikinamylo-(1-6) -glucosidase amma sama da duka daga1-4-XNUMX-XNUMX-glucosidase. (1)

Wannan saboda enzyme na ƙarshe ana samun shi a cikin nau'in acidic a cikin jiki kuma yana da ikon hydrolyzing (lalata sinadarai ta ruwa) glycogen cikin raka'a glucose. Don haka wannan aikin kwayoyin yana haifar da raunin intralysosomal (ƙwayoyin sel a cikin ƙwayoyin eukaryotic) na glycogen.

Wannan rashi α-1,4-glucosidase yana bayyana ne kawai ta wasu gabobi, kuma musamman zuciya da tsokar kasusuwa. (2)

Cutar Pompe tana haifar da lalacewar tsokar kasusuwa da na numfashi. Ciwon zuciya na hawan jini (kaurin tsarin zuciya) galibi ana alakanta shi.

Wannan cuta ta fi shafar manya. Duk da haka, alamun da ke tattare da sifar babba sun bambanta da alamun da ke da alaƙa da yanayin jariri. (2)

Cutar cuta ce ta gado ta hanyar watsawa ta atomatik.

Jigon da ke ɗauke da en-1,4,-XNUMX-glucosidase enzyme ana ɗaukar shi ta hanyar autosome (chromosome ba na jima'i ba) kuma jigon jigon dole ne ya kasance yana da alaƙa guda biyu don bayyana halayen phenotypic na cutar.

Saboda haka ana fama da cutar Pompe ta tarin glycogen a cikin lysosomes na tsokar kasusuwan da zuciya. Koyaya, wannan cututtukan na iya shafar sauran yankuna na jiki: hanta, kwakwalwa ko kashin baya.

Alamomin cutar ma sun bambanta dangane da abin da abin ya shafa.

- Siffar da ke shafar jariri galibi tana fama da cututtukan zuciya. Ciwon zuciya ne tare da kaurin tsarin tsoka.

- Siffar jariri gaba ɗaya yana bayyana tsakanin watanni 3 zuwa 24. An bayyana wannan fom musamman ta hanyar cututtukan numfashi ko ma gazawar numfashi.

- Siffar babba, a nata ɓangaren, yana bayyana ta hanyar shigar da bugun zuciya. (3)

Babban alamomin nau'in II glycogenosis sune:

- gajiyawar tsoka a cikin yanayin dystrophies na muscular (rauni da lalacewar fibers na tsokoki waɗanda ke rasa ƙarar su) ko myopathies (saitin cututtukan da ke shafar tsokoki), wanda ke haifar da gajiya mai ɗorewa, zafi da tsokar rauni. Tsokar da wannan cuta ta shafa duka locomotor, na numfashi da tsokar zuciya.

- rashin iyawa ga kwayoyin halittar glycogen da aka tara a cikin lysosome. (4)

Cutar Pompe cuta ce ta gado. Canja wurin wannan cututtukan yana da rashi na autosomal. Don haka shine watsa kwayar halittar da aka canza (GAA), wacce ke kan autosome (chromosome mara jima'i) wanda ke kan chromosome 17q23. Bugu da ƙari, batun da ke recessive dole ne ya ƙunshi juzu'i mai rikitarwa a cikin kwafi don haɓaka samfuri mai alaƙa da wannan cutar. (2)

Isar da gadon wannan kwayar halittar da aka canza tana haifar da rashi na enzyme α-1,4-glucosidase. Wannan glucosidase yana da rauni, don haka glycogen ba za a iya ƙasƙantar da shi ba sannan ya tara cikin kyallen takarda.

Abubuwan haɗari don haɓaka cutar Pompe sun ta'allaka ne kawai a cikin nau'in halittar iyaye. Lallai, asalin wannan cututtukan shine kasancewar gado mai ratsa jiki, yana buƙatar cewa duka iyaye suna ɗauke da ƙwayoyin halittar da ke rikitar da raunin enzyme kuma kowane ɗayan waɗannan kwayoyin ana samun su a cikin sel na jariri don cutar ta barke.

Sabili da haka kafin haihuwar haihuwa yana da ban sha'awa don sanin haɗarin da yaron zai iya kamuwa da irin wannan cutar.

Yakamata a yi gwajin cutar Pompe da wuri -wuri.

Ana iya gano sifar farkon jariri da sauri ta hanyar faɗaɗa tsokar zuciya. Don haka dole ne a hanzarta gano wannan nau'in cutar kuma a gaggauta sanya magani a wuri. Tabbas, a cikin wannan mahallin, mahimmancin hangen nesa na yaron yana cikin hanzari.

Ga nau'in “marigayi” na ƙuruciya da manya, marasa lafiya na haɗarin zama dogaro (keken hannu, taimakon numfashi, da sauransu) idan babu magani. (4)

Ana gano cutar musamman akan gwajin jini da takamaiman gwajin kwayoyin cutar.

Binciken halittu ya ƙunshi nuna rashi na enzyme.

Hakanan ana iya gano cutar kafin haihuwa. Yana auna ma'aunin aikin enzymes a cikin tsarin biopsy na trophoblast (sel ɗin da aka yi da fibroblasts wanda ke haifar da mahaifa a cikin watan uku na ciki). Ko ta hanyar gano takamaiman maye gurbi a cikin sel tayi a cikin abin da abin ya shafa. (2)

Za'a iya ba da izinin maye gurbin enzyme don batun da ke da cutar Pompe. Wannan shine alglucosidase-α. Wannan maganin enzyme recombinant yana da tasiri ga farkon tsari amma ba a tabbatar da cewa yana da fa'ida ba a cikin sifofin farkon farawa. (2)