Chirwere chePompe izita rinowanzo kupihwa ku "type II glycogenosis (GSD II)".

Iyi pathology inoratidzwa nekuunganidza kusingawanzo kwe glycogen mumatishu.

Iyi glycogen i polymer yeglucose. Iyo carbohydrate yakaumbwa kubva kumaketani marefu emamorekuru eglucose, ichigadzira chitoro chikuru cheglucose mumuviri uye nekudaro ichiumba kwakakosha sosi yesimba kuvanhu.

Mhando dzakasiyana dzechirwere dziripo zvichienderana nezviratidzo uye mamorekuru emakemikari anowanikwa mumatishu. Mamwe ma enzymes anofungidzirwa kuve ane mhosva yekuunganidza kusiri kwemaitiro eglycogen. Izvi zvinosanganisira glucose 6-phosphatase, Muamylo-(1-6)-glucosidase asi pamusoro pezvose kubvaα-1-4-glucosidase. (1)

Izvi zvinodaro nekuti iyo enzyme yekupedzisira inowanikwa mune acidic fomu mumuviri uye inokwanisa kuita hydrolyzing (kuparadza kemikari nemvura) glycogen kuita mayunitsi eglucose. Ichi chiitiko chemolecular saka chinotungamira kune intralysosomal (intracellular organelle mueukaryotic organisms) kuunganidzwa kweglycogen.

Iyi α-1,4-glucosidase inoshaya inoratidzwa chete nedzimwe nhengo, uye kunyanya mwoyo uye skeletal muscle. (2)

Chirwere chePompe chinoguma nekukuvara kweskeletal uye kufema tsandanyama. Hypertrophic heart disease (kuwedzera kwechimiro chemoyo) inowanzobatanidzwa nayo.

Chirwere ichi chinobata vanhu vakuru zvakanyanya. Zvisinei, zviratidzo zvinosangana nefomu revakuru zvakasiyana nezviratidzo zvinosanganiswa nefomu recheche. (2)

Iyo inhaka yekugara nhaka ne autosomal recessive kutapurirana.

Iyo gene encoding iyo α-1,4-glucosidase enzyme inotakurwa ne autosome (isina-yepabonde chromosome) uye iyo recessive nyaya inofanirwa kunge iine maviri akafanana alleles kuitira kuratidza phenotypic maitiro echirwere.

Chirwere chePompe saka chinoratidzwa nekuunganidza glycogen mu lysosomes ye skeletal muscles uye mwoyo. Nekudaro, iyi pathology inogona zvakare kukanganisa mamwe matunhu emuviri: chiropa, uropi kana musana.

Zviratidzo zvakare zvakasiyana zvichienderana nenyaya yakabatwa.

- Chimiro chinokanganisa mwana achangoberekwa chinonyanya kuratidzwa ne hypertrophic heart disease. Ichirwere chemoyo nekukora kwechimiro chemhasuru.

- Chimiro chemucheche chinowanzoonekwa pakati pemwedzi mitatu ne3. Iyi fomu inotsanangurwa kunyanya nekukanganiswa kwekufema kana kutadza kufema.

- Chimiro chevakuru, kune chikamu chayo, chinoratidzwa nekufambira mberi kwekubatanidzwa kwemoyo. (3)

Zviratidzo zvikuru zverudzi rwechipiri glycogenosis ndezvi:

- kupera simba muscular dystrophies (kushaya simba uye kupera kwefibers yemhasuru inorasikirwa nehuwandu hwavo) kana myopathies (seti yezvirwere zvinokanganisa misumbu), izvo zvinoguma nekuneta kusingaperi, kurwadziwa uye kupera simba. Mimhasuru inobatwa nechirwere ichi zvese zviri zviviri locomotor, kufema uye tsandanyama dzemwoyo.

- kusakwanisa kwehupenyu kusvibisa glycogen yakaunganidzwa mu lysosome. (4)

Chirwere chePompe chirwere chinogarwa nhaka. Kuendeswa kweiyi pathology ndeye autosomal recessive. Naizvozvo ndiko kutapurirana kwejini rakashandurwa (GAA), riri pane autosome (isina-yepabonde chromosome) iri pachromosome 17q23. Mukuwedzera, iyo recessive nyaya inofanirwa kunge iine mutated gene mune duplicate kugadzira phenotype ine chekuita nechirwere ichi. (2)

Kutapurirana kwenhaka yeiyi mutated gene kunoguma nekushayikwa kwe enzyme α-1,4-glucosidase. Iyi glucosidase haina kukwana, saka glycogen haigone kuderedzwa uye yobva yaungana mumatishu.

Zvikonzero zvengozi yekuvandudza chirwere chePompe zvinongori mugenotype yevabereki. Chokwadi, kwakabva chirwere ichi kuve autosomal recessive nhaka, zvinoda kuti vabereki vese vatakure mutated gene encoding kushomeka kweenzymatic uye kuti imwe neimwe yemajini aya inowanikwa mumasero emwana achangoberekwa kuitira kuti chirwere chibude.

The pre-natal diagnosis saka inofadza kuziva njodzi dzinogona kuitika kuti mwana aite chirwere chakadaro.

Kuongororwa kweChirwere chePompe kunofanirwa kuitwa nekukurumidza sezvinobvira.

Mafomu ekutanga emucheche anokurumidza kuonekwa kuburikidza nekukura kukuru kwemhasuru yemwoyo. Kuongororwa kwechimiro chechirwere ichi kunofanirwa kuitwa nekukurumidza uye kurapwa kunofanirwa kuiswa panzvimbo nekukurumidza. Zvechokwadi, mumamiriro ezvinhu aya, kufungidzira kwakakosha kwemwana kunoitwa nokukurumidza.

Kune "kunonoka" chimiro chehuduku nevakuru, varwere vari pangozi yekuva vanovimba (wiricheya, rubatsiro rwekufema, nezvimwewo) pasina kurapwa. (4)

Kuongororwa kunonyanya kubva pakuongorora ropa uye chaiyo genetic test yechirwere.

Biological screening ine ratidziro yekushomeka kwe enzymatic.

A pre-natal diagnosis inogonekawo. Icho chiyero chekushanda kweenzymatic mukati megadziriro ye trophoblast biopsy (cell layer inoumbwa ne fibroblasts inopa kukwira kwe placenta mumwedzi wechitatu wemimba). Kana nekuziva shanduko chaiyo mumaseru e "fetus" mumusoro wabatwa. (2)

Enzyme replacement therapy inogona kurongerwa kune chidzidzo chine chirwere chePompe. Izvi zvinonzi alglucosidase-α. Iyi recombinant enzyme kurapwa inoshanda kune yekutanga fomu asi haina, zvisinei, yakaratidza kuve inobatsira mune inotevera mafomu ekutanga. (2)