Matenda a Pompe ndi dzina lomwe limadziwika kuti "mtundu wachiwiri wa glycogenosis (GSD II)".

Kudwala Izi amakhala ndi kudzikundikira nthenda ya glycogen mu zimakhala.

Glycogen Izi polima shuga. Ndi kababohydrate wopangidwa kuchokera ku unyolo wautali wa mamolekyulu a shuga, omwe amapanga sitolo yayikulu ya glucose m'thupi motero amakhala gwero lofunikira lamphamvu kwa anthu.

Mitundu yosiyanasiyana yamatenda imakhalapo kutengera zisonyezo ndi mamolekyulu am'magazi omwe amapezeka mumisempha. Ma enzyme ena amaganiza kuti ndi omwe amachititsa kuti glycogen izi zitheke. Izi zikuphatikiza shuga 6-phosphatase, Muamylo- (1-6) -glucosidase koma koposa zonse kuchokeraα-1-4-glucosidase. (1)

Izi ndichifukwa choti enzyme yomalizayi imapezeka mu mawonekedwe a acidic m'thupi ndipo imatha kupangitsa hydrolyzing (kuwononga mankhwala ndi madzi) glycogen m'magawo a shuga. Chifukwa chake ma molekyuluwa amatsogolera ku intralysosomal (intracellular organelle in eukaryotic organism) kudzikundikira kwa glycogen.

Kuperewera kwa α-1,4-glucosidase kumafotokozedwa ndi ziwalo zina, makamaka mtima ndi mafupa. (2)

Matenda a Pompe amachititsa kuwonongeka kwa mafupa ndi kupuma kwa minofu. Matenda amtima wa hypertrophic (kukulitsa kwa kapangidwe ka mtima) nthawi zambiri kumalumikizidwa nawo.

Matendawa amakhudza achikulire kwambiri. Komabe, zizindikiro zomwe zimakhudzana ndi mawonekedwe achikulire zimasiyana ndi zomwe zimakhudzana ndi mawonekedwe achichepere. (2)

Ndi matenda omwe tidabadwa nawo opatsirana mwa autosomal.

Jini lomwe limasunga ma enzyme a α-1,4-glucosidase limanyamula ndi autosome (non-sex chromosome) ndipo mutu wokhazikika uyenera kukhala ndi ma alleles awiri ofanana kuti athe kufotokoza mawonekedwe a phenotypic a matendawa.

Matenda a Pompe amadziwika ndi kuchuluka kwa glycogen m'matumba a minofu ndi mtima. Komabe, kudwala kumeneku kumatha kukhudzanso zigawo zina za thupi: chiwindi, ubongo kapena msana.

Zizindikirozi ndizosiyana kutengera zomwe zakhudzidwa.

- Fomu yomwe imakhudza mwana wakhanda imadziwika kwambiri ndi matenda amtima wa hypertrophic. Ndimatenda amtima ndikukula kwa minofu.

- Maonekedwe achikulire amapezeka pakati pa miyezi 3 ndi 24. Fomuyi imafotokozedwa makamaka ndi zovuta za kupuma kapena kulephera kupuma.

- Mawonekedwe achikulire, mbali yake, amawonetsedwa ndi kutengapo gawo kwamtima kwa mtima. (3)

Zizindikiro zazikulu za mtundu wachiwiri wa glycogenosis ndi izi:

- kutopa kwamtundu wamtundu waminyewa yamatenda (kufooka ndi kufooka kwa ulusi wa minofu yomwe imachepetsa mphamvu) kapena myopathies (matenda omwe amakhudza minofu), omwe amabweretsa kutopa, kupweteka komanso kufooka. Minofu yomwe imakhudzidwa ndi matendawa ndimalo opumira, kupuma komanso minofu yamtima.

- Kulephera kwa thupi kuti liwononge glycogen yomwe imasonkhanitsidwa mu lysosome. (4)

Matenda apompe ndi matenda obadwa nawo. Kusamutsidwa kwa matendawa ndikowonongeka kwambiri. Ndikutumiza kwa jini losinthidwa (GAA), lomwe lili pa autosome (yosagonana chromosome) yomwe ili pa chromosome 17q23. Kuphatikiza apo, nkhani yotsitsimutsayi iyenera kukhala ndi jini losinthidwa mwanjira ziwiri kuti apange phenotype yokhudzana ndi matendawa. (2)

Kutengera cholowa cha jini lomasinthirali kumapangitsa kusowa kwa enzyme α-1,4-glucosidase. Glucosidase iyi ndiyosowa, chifukwa chake glycogen imatha kuchepetsedwa kenako imadzikundikira m'minyewa.

Zomwe zimayambitsa chiwopsezo cha matenda a Pompe zimangokhala munthawi ya makolo. Zowonadi, chiyambi cha matendawa kukhala cholowa chambiri, chimafunikira kuti makolo onse atenge jini yosinthika lomwe limasowa enzymatic ndikuti iliyonse yamtunduwu imapezeka m'maselo a wakhanda kuti matendawa ayambe.

Matendawa asanabadwe ndiosangalatsa kudziwa zoopsa zomwe mwanayo angadwale.

Kuzindikira Matenda a Pompe kuyenera kuchitika posachedwa.

Fomu yoyambirira ya wakhanda imadziwika msanga kudzera kukulitsa kwaminyewa yamtima. Kuzindikira mtundu wa matendawa kuyenera kuchitidwa mwachangu ndipo mankhwala ayenera kukhazikitsidwa mwachangu. Zowonadi, munthawiyi, kulosera kofunikira kwa mwanayo kumachitika mwachangu.

Mwa mawonekedwe a "mochedwa" aubwana ndi akulu, odwala amakhala pachiwopsezo chodalira (njinga ya olumala, kuthandizira kupuma, ndi zina zambiri) pakalibe chithandizo. (4)

Kuzindikira kumatengera kuyesa magazi komanso mtundu wina wa matendawo.

Kuwunika kwachilengedwe kumakhala ndi chiwonetsero cha kuchepa kwa enzymatic.

Matendawa asanabadwe ndiothekanso. Ndi muyeso wa zochitika za enzymatic mkati mwa trophoblast biopsy (cell wosanjikiza wopangidwa ndi ma fibroblast omwe amatulutsa nsengwa m'mwezi wachitatu wa mimba). Kapenanso pozindikira masinthidwe ena m'maselo a fetus pankhani yomwe yakhudzidwa. (2)

Mankhwala opatsirana ndi enzyme amatha kupatsidwa mwayi wokhala ndi matenda a Pompe. Izi ndi alglucosidase-α. Mankhwala othandizira mavitaminiwa ndi othandiza pa mawonekedwe oyamba koma sanatsimikizidwe kuti ndi othandiza m'mafomu amtsogolo. (2)