Isifo se-Pompe yigama elivame ukubizwa ngokuthi "uhlobo lwe-II glycogenosis (GSD II)".

Le pathology ibonakala ngokunqwabelana okungavamile kwe-glycogen ezicutshini.

Le glycogen iyi-polymer yeglucose. I-carbohydrate eyakhiwe ngamaketanga amade ama-molecule e-glucose, akha isitolo esikhulu se-glucose emzimbeni futhi ngaleyo ndlela yakha umthombo obalulekile wamandla kubantu.

Izinhlobo ezahlukene zesifo zikhona kuye ngokuthi izimpawu kanye nama-molecule amakhemikhali atholakala ezicutshini. Kucatshangwa ukuthi ama-enzyme athile anesibopho salokhu kunqwabelana kwe-glycogen okungavamile. Lezi zihlanganisa i-glucose 6-phosphatase, Kuamylo-(1-6)-glucosidase kodwa ngaphezu kwakho konke kusukaα-1-4-glucosidase. (I-1)

Lokhu kungenxa yokuthi i-enzyme yokugcina itholakala ohlotsheni olune-asidi emzimbeni futhi iyakwazi ukwenza i-hydrolyzing (icekele phansi ikhemikhali ngamanzi) i-glycogen ibe amayunithi eglucose. Ngakho-ke lo msebenzi wamangqamuzana uholela ekuqongeleleni kwe-intralysosomal (intracellular organelle e-eukaryotic organisms) ye-glycogen.

Lokhu kushoda kwe-α-1,4-glucosidase kuvezwa kuphela izitho ezithile, futhi ikakhulukazi inhliziyo nemisipha yamathambo. (2)

Isifo se-Pompe siphumela ekulimaleni kwamathambo nokuphefumula. Isifo senhliziyo se-hypertrophic (ukuqina kwesakhiwo senhliziyo) sivame ukuhlotshaniswa nayo.

Lesi sifo sithinta abantu abadala kakhulu. Kodwa-ke, izimpawu ezihambisana nefomu lomuntu omdala zihlukile ezimpawu ezihambisana nefomu lengane. (2)

Kuyi-pathology ezuzwe njengefa ngokudluliselwa kwe-autosomal recessive.

Isakhi sofuzo esifaka ikhodi ye-enzyme ye-α-1,4-glucosidase iphathwa i-autosome (i-chromosome engeyona ezocansi) futhi isihloko esiphindaphindayo kufanele sibe nama-allele amabili afanayo ukuze kuvezwe izici ze-phenotypic zesifo.

Ngakho-ke isifo sePompe sibonakala ngokunqwabelana kwe-glycogen kuma-lysosomes emisipha yamathambo nenhliziyo. Kodwa-ke, le pathology ingathinta nezinye izifunda zomzimba: isibindi, ubuchopho noma umgogodla.

Izimpawu nazo zihlukile kuye ngesihloko esithintekile.

- Ifomu elithinta usana olusanda kuzalwa libonakala ngokuyinhloko yi-hypertrophic heart disease. Kuyisifo senhliziyo esinokuqina kwesakhiwo semisipha.

– Ifomu losana ngokuvamile livela phakathi kwezinyanga ezi-3 nezingama-24. Leli fomu lichazwa ikakhulukazi ngokuphazamiseka kokuphefumula noma ngisho nokuphefumula.

- Ifomu lomuntu omdala, ngakolunye uhlangothi, livezwa ngokubandakanyeka kwenhliziyo okuqhubekayo. (3)

Izimpawu eziyinhloko zohlobo II lwe-glycogenosis yilezi:

- ukukhathala kwemisipha ngendlela ye-muscular dystrophies (ubuthakathaka kanye nokuwohloka kwemicu yemisipha elahlekelwa umthamo) noma i-myopathies (iqoqo lezifo ezithinta imisipha), okuholela ekukhathaleni okungapheli, ubuhlungu kanye nobuthakathaka bemisipha. Izicubu ezithintekayo yilesi sifo zombili ziyi-locomotor, imisipha yokuphefumula neyenhliziyo.

- ukungakwazi ukuthi umzimba wehlise isithunzi se-glycogen eqoqwe ku-lysosome. (4)

Isifo sePompe yisifo esitholakala ngofuzo. Ukudluliswa kwalesi sifo kuyi-autosomal recessive. Ngakho-ke kuwukudluliswa kofuzo oluguquliwe (GAA), olutholakala ku-autosome (i-chromosome engeyona ezocansi) etholakala ku-chromosome 17q23. Ukwengeza, isihloko esiphindaphindekayo kufanele siqukathe isakhi sofuzo esiguquliwe esiyimpinda ukuze kuthuthukiswe i-phenotype ehlobene nalesi sifo. (2)

Ukudluliswa kwefa kwalesi sakhi sofuzo esiguquliwe kubangela ukuntuleka kwe-enzyme i-α-1,4-glucosidase. Le glucosidase iyashoda, ngakho i-glycogen ayikwazi ukwehliswa bese inqwabelana ezicutshini.

Izici eziyingozi zokuthuthukisa isifo se-Pompe zilele kuphela ku-genotype yabazali. Ngempela, umsuka walesi sifo kuba ifa le-autosomal recessive, kudinga ukuthi bobabili abazali baphathe isakhi sofuzo esiguquliwe esifaka ukuntuleka kwe-enzymatic nokuthi ngayinye yalezi zakhi zofuzo zitholakala kumaseli osana olusanda kuzalwa ukuze kuqubuke isifo.

Ngakho-ke ukuxilongwa ngaphambi kokubeletha kuyathakazelisa ukwazi izingozi ezingaba khona ukuthi ingane ihlakulele isifo esinjalo.

Ukuxilongwa kwePompe Disease kufanele kwenziwe ngokushesha ngangokunokwenzeka.

Ifomu losana lokuqala libonakala ngokushesha ngokwandisa imisipha yenhliziyo. Ngakho-ke ukuhlonzwa kwalolu hlobo lwesifo kufanele kwenziwe ngokushesha futhi ukwelashwa kufanele kwenziwe ngokushesha ngangokunokwenzeka. Ngempela, kulo mongo, ukubikezela okubalulekile kwengane kuhileleka ngokushesha.

Ohlotsheni “lwasemuva” lobuntwana kanye nabantu abadala, iziguli zisengozini yokuncika (isihlalo sabakhubazekile, usizo lokuphefumula, njll.) lapho kungekho ukwelashwa. (4)

Ukuxilongwa kusekelwe kakhulu ekuhlolweni kwegazi kanye nokuhlolwa kofuzo oluthile lwesifo.

Ukuhlolwa kwezinto eziphilayo kuhlanganisa ukuboniswa kokushoda kwe-enzymatic.

Ukuxilongwa kwangaphambi kokubeletha nakho kungenzeka. Kuyisilinganiso somsebenzi we-enzymatic ngaphakathi kohlaka lwe-trophoblast biopsy (ungqimba lweseli olwakhiwe ngama-fibroblasts oludala i-placenta enyangeni yesithathu yokukhulelwa). Noma ngokuhlonza ukuguqulwa okuthile kumaseli engane esihlokweni esithintekile. (2)

Ukwelashwa kokubuyisela ama-enzyme kungase kunqunywe esihlokweni esinesifo se-Pompe. Lokhu i-alglucosidase-α. Lokhu kwelashwa kwe-enzayimu ehlanganisiwe kusebenza ngempumelelo efomini lokuqala kodwa akuzange, nokho, kuboniswe njengenzuzo kumafomu okuqala kamuva. (2)