Ingabe ingane yakho ayiphefumuli? Ingabe kungaba yisifo sikaPompe?

Ingabe ingane yakho encane izizwa ibuthakathaka futhi ikhathele? Ingabe ihleli nje lapho, inganyakazi njengezinye izingane ezingontanga yayo? Noma ingabe kunzima ngengane encane endala ukuhamba, ukugijima, noma ukugxuma? Kuvamile ukuthi umama noma ubaba azizwe esaba kakhulu uma ebona into efana nale. Kodwa lezi zinto azivamile ngaso sonke isikhathi. Namuhla sikhuluma ngesimo esingavamile esibangela ubuthakathaka bemisipha, kodwa esingaziwa kahle ezweni lakithi. Leso yisifo sePompe.

Kalula nje, siyini isifo iPompe?

Isifo se-Pompe yisifo esibangelwa izakhi zofuzo esibangela ukuqongelela ushukela oyinkimbinkimbi obizwa ngokuthi i-glycogen ngaphakathi kwamaseli emizimba yethu. Singeqembu lezifo ezibizwa ngokuthi izifo zokugcina i-glycogen.

Kulungile, manje ake sikuqonde lokhu kalula. Umzimba wethu une-enzyme ebizwa ngokuthi i-acid alpha-glucosidase , noma i-GAA ngamafuphi. Umsebenzi oyinhloko wale enzyme ukuphula ushukela oyinkimbinkimbi obizwa ngokuthi i-glycogen engikhulume ngawo ekuqaleni bese uwuguqula ube ushukela olula, i-glucose, osiza umzimba wethu ukukhiqiza amandla owadingayo.

Kumuntu onesifo sePompe, umzimba awukhiqizi le enzyme ye-GAA, noma ukhiqiza okuncane kakhulu. Ngakho-ke kwenzekani-ke? Njengoba kungekho ndlela yokuphula i-glycogen, kancane kancane iqala ukuqongelela ngaphakathi kwamaseli ethu.

Ngaphakathi kwamaseli ethu kukhona ama-organelle amancane abizwa ngokuthi ama-lysosome . Lawa yiwo asebenza njengezikhungo zokuvuselela udoti. I-enzyme ye-GAA kufanele isebenze ngaphakathi kwala ma-lysosome. Uma i-enzyme ingekho, i-glycogen iqoqana ngaphakathi kwala ma-lysosome, iwalimaze futhi ekugcineni yonakalise lonke iseli. Lo monakalo uvame ukuthinta imisipha yenhliziyo yethu kanye nemisipha yamathambo. Yingakho kuvela izimpawu ezifana nobuthakathaka bemisipha.

Lesi sifo saziwa ngamanye amagama:

• Ukuntuleka kwe-asidi ye-maltase
• Uhlobo lwesifo sokugcina i-Glycogen II (GSD2)

Yiziphi izinhlobo eziyinhloko zalesi sifo?

Isifo se-Pompe singahlukaniswa ngezinhlobo ezimbili eziyinhloko, ngokusekelwe eminyakeni yokuqala kanye nobunzima bezimpawu. Ukuze sikusize uqonde umehluko phakathi kwalezi zinhlobo ezimbili, ake sibheke leli thebula .

Yiziphi izimpawu ezingaba khona zesifo sikaPompe?

Izimpawu ziyahlukahluka kuye ngohlobo lwesifo.

Izimpawu zokuqala kwezinsana

Kulolu hlobo, umntwana angase angakhombisi zimpawu lapho ezalwa, kodwa lezi zimpawu ziqala ukuvela zingakapheli izinyanga ezimbalwa.

• I-Hypotonia: Lolu uphawu oluyinhloko. Umzimba womntwana uba buthaka futhi uzizwe njengodoli ogqokile. Kunzima ukuphakamisa ikhanda noma ukugoqa.
• I-Cardiomegaly: Inhliziyo iyakhula ngenxa yokuqongelela kwe-glycogen emisipheni yenhliziyo.
• Isibindi esikhulu (i-Hepatomegaly)
• Ulimi olukhulu (i-Macroglossia)
• Izinkinga zokukhula nokukhula kwesisindo: Ingane ayikhuli futhi ayikhuli kahle.
• Ubunzima bokuphefumula: Ubuthakathaka bemisipha yesifuba kwenza kube nzima ukuphefumula.
• Ubunzima bokudla nokuphuza: Ubunzima bokuncela nokugwinya, okungabangela izinkinga ngezinto ezifana nokuphuza ubisi.
• Izifo zokuphefumula ezivame ukwenzeka (ukukhwehlela, umkhuhlane).
• Ukukhubazeka kokuzwa.

Izimpawu zokuqala sekwephuzile

Lezi zinhlobo zezimpawu zincane futhi zikhula kancane, kodwa zingaba zimbi kakhulu ngokuhamba kwesikhathi.

• Ubuthakathaka kancane kancane kwemisipha yemilenze nomzimba.
• Ubunzima bokuhamba kanye nokuwa njalo.
• Ubuhlungu bemisipha endaweni enkulu.
• Ukungakwazi ukuzivocavoca.
• Izifo zokuphefumula ezivame ukwenzeka.
• Ubunzima bokuphefumula uma ukhathele (i-Dyspnea).
• Ikhanda elibuhlungu ekuseni: Lokhu kungaba uphawu lokuphefumula okungajwayelekile ebusuku.
• Ukukhathala ngokweqile kanye nokulala emini.
• Ukwehlisa isisindo.
• Ubunzima bokugwinya (i-Dysphagia).
• Ukushaya kwenhliziyo okungajwayelekile (i-Arrhythmia).
• Ukukhubazeka kokuzwa.

Kungani lesi sifo senzeka? Iyini imbangela?

Lesi yisifo esibangelwa imbangela yofuzo ngokuphelele. Kukhona i -gene ebizwa ngokuthi i-GAA emzimbeni wethu. Le gene yiyo eqondisa ukukhiqizwa kwe-enzyme ye-GAA eshiwo ngenhla. Isifo se-Pompe sibangelwa ukuguquka kwezakhi zofuzo ze-GAA. Lokhu kuguquka kunciphisa noma kumisa ngokuphelele ukukhiqizwa kwe-enzyme ye-GAA.

Lesi sifo sizuzwa njengefa ngendlela 'ye-Autosomal Recessive' . Kusho ukuthini lokho?

Uma bobabili abazali bengabathwali balesi sifo, kunethuba elingu-25% lokuthi ingane izoba nalesi sifo, ithuba elingu-50% lokuthi ingane nayo izoba ngumthwali waso, kanye nethuba elingu-25% lokuthi ingane ngeke izuze noma yiziphi izakhi zofuzo ezinephutha futhi izoba nempilo enhle.

Udokotela usithola kanjani lesi sifo?

Uma uyisa ingane yakho noma wena ngokwakho kudokotela, into yokuqala abayenzayo ukuhlola umzimba bese bebuza ngomlando wezokwelapha womndeni wakho. Bese benza izivivinyo ezimbalwa ukuqinisekisa ukuxilongwa.

• Ukuhlolwa kwegazi:
• Ukuhlolwa Kwezinga Le-Creatine Kinase: Le enzyme ikhishwa egazini uma imisipha yonakele. Uma izinga layo liphakeme, kungabonisa ukuthi imisipha yonakele.
• Ukuhlolwa komsebenzi we-enzyme ye-GAA: Lolu ukuhlolwa okuqondile kakhulu . Kuthathwa isampula yegazi bese kulinganiswa umsebenzi we-enzyme ye-GAA. Uma unesifo se-Pompe, lo msebenzi uphansi kakhulu.
• Ukuhlolwa Kwezakhi Zofuzo: Lokhu kuhlolwa kwenziwa ukuqinisekisa ukuthi kukhona yini izinguquko ku-gene ye-GAA.
• Ezinye izivivinyo:
• Ukuhlolwa kokusebenza kwamaphaphu: Kala ubuthakathaka bemisipha yokuphefumula.
• I-Electromyography (EMG): Kala umsebenzi kagesi wemisipha.
• Ukuhlolwa kwenhliziyo: Ukuhlolwa okufana ne-ECG kanye ne-Echocardiogram kuhlola isimo senhliziyo.
• Izifundo zokulala: Thola izinkinga zokuphefumula ngesikhathi sokulala.

Yiziphi izindlela zokwelapha lokhu?

Nakuba isifo sikaPompe singelapheki ngokuphelele, kunezindlela zokwelapha ezingalawula izimpawu futhi zithuthukise ikhwalithi yokuphila.

Ukwelashwa okuyinhloko yi -Enzyme Replacement Therapy (ERT) , okuhilela ubunjiniyela bezakhi zofuzo i-enzyme ye-GAA engekho bese uyinikeza nge-intravenously nge-saline.

• I-Alglucosidase alfa
• I-Avalglucosidase alfa

Ngale mithi,

• Kunciphisa usayizi wenhliziyo ekhulisiwe.
• Ibuyisela ukusebenza kwenhliziyo.
• Kuthuthukisa amandla emisipha kanye nokusebenza kwayo.
• Yehlisa ukufakwa kwe-glycogen kumaseli.

Ngaphezu kwalokhu kwelashwa kwe-ERT, isiguli sidinga ukunakekelwa okusekelwayo.Kubalulekile futhi ukukuqinisekisa lokhu. Ithimba lodokotela abangochwepheshe abahlukahlukene kanye nabelaphi lisebenza ndawonye kulokhu.

• Abelaphi bomzimba: Nikeza izivivinyo zokuqinisa imisipha nokuthuthukisa ukunyakaza.
• Abelaphi bomsebenzi: Siza abantu benze imisebenzi yansuku zonke ngokuzimela.
• Abelaphi bokuphefumula: Yelapha izinkinga zokuphefumula.
• Odokotela benhliziyo
• Odokotela bezinzwa

Kuye ngobukhulu besifo, isiguli singadinga izinto ezifana nokufaka umoya ngomshini noma ipayipi lokuphakela .

Ngaphezu kwalokho, ososayensi bacwaninga futhi ngezindlela zokwelapha zesimanje ezifana nokwelashwa ngezakhi zofuzo , okuhlose ukwenza umzimba ukhiqize i-enzyme ye-GAA ngokwawo ngokufaka esikhundleni sezakhi zofuzo ezonakele endaweni yazo.

Yini ongayenza uma wena noma ingane yakho ninalesi sifo?

Uma usola ngisho nokuncane ukuthi wena noma ingane yakho inalezi zimpawu, sicela ungachithi isikhathi futhi ubone udokotela ngokushesha. Uma lesi sifo sisheshe sitholakale futhi ukwelashwa kuqala, izinga lempilo yesiguli lingaba ngcono.

Ukubhekana nesimo esinjengalesi akulula. Yingakho kubalulekile ukufuna usizo kudokotela wengqondo. Futhi, ukujoyina amaqembu okusekelana nabanye abantu abanezifo ezifanayo kanye nemindeni yabo kungaba amandla amakhulu. Okuwukuphela kwento enhle ukuzizwa sengathi awuwedwa.

Udinga nokuphumula kanye nenhlalakahle yengqondo ukuze unakekele ingane yakho. Ungakhohlwa lokho.

Buza udokotela wakho imibuzo efana nale:

• Uhlobo luni lwesifo sePompe ingane yami enalo?
• Yibaphi abanye ochwepheshe okudingeka sibabone?
• Yini engingayenza ukuze ingane yami ikhululeke?
• Ingabe kuwumqondo omuhle ukwenza ukuhlolwa kofuzo kwamanye amalungu omndeni?
• Ngingaluthola kanjani usizo lokuhlala ngiqinile engqondweni ngalesi sifo?