Ingabe ingane yakho encane inalezi zimpawu? Masiqaphele i-Pearson Syndrome

Ingabe ingane yakho encane ihlala igula? Ingabe ibonakala ikhathele? Ingabe ngezinye izikhathi ithola imihuzuko kalula? Ngisho noma lokhu kungase kubonakale njengezinto ezivamile, ngezinye izikhathi kungase kube nesizathu esingathi sína ngemuva kwalokhu esingasazi. Namuhla sizokhuluma ngesimo sezokwelapha esingavamile, kodwa esingathi sína kakhulu. Leso yisifo esibizwa ngokuthi i-Pearson Syndrome.

Iyini i-Pearson Syndrome?

Kalula nje, i-Pearson Syndrome iyisifo esingavamile kakhulu futhi esibi kakhulu se-mitochondria. Manje ungase uzibuze ukuthi ziyini lezi mitochondria. Cabanga ukuthi wonke amaseli emzimbeni wethu afana nefektri encane. Lezi zimboni zidinga amandla ukuze zisebenze. Izingxenye ezenza lawo mandla, njengezitshalo zamandla ezincane, zibizwa ngokuthi i-mitochondria. Yilezi mitochondria eziguqula ukudla esikudlayo kube amandla futhi zinikeze amandla adingekayo ukuze zonke izitho kanye nohlelo emzimbeni wethu, njengesibindi, inhliziyo, kanye nobuchopho, zisebenze.

Kumntwana one-Pearson Syndrome, kunezinguquko ezithile, noma izinguquko, ezintweni zofuzo kulezi mitochondria, okungukuthi, i-DNA ye-mitochondrial. Lokhu kuvimbela amangqamuzana ekukhiqizeni amandla ngendlela efanele. Lokhu kuthinta kakhulu izitho ezibalulekile zengane njengomongo wamathambo, i-pancreas, nesibindi.

Lesi simo sivame ukutholakala ebuntwaneni. Singabangela izinkinga ezahlukahlukene egazini lengane. Isibonelo:

• Ukwehla kwamangqamuzana abomvu egazi, okungukuthi , i-anemia .
• Ukwehla kwamangqamuzana amhlophe egazi, okungukuthi , i-neutropenia .
• Ukwehla kwama-platelet (amaseli asiza ukujiya kwegazi), okwaziwa ngokuthi i-thrombocytopenia .

Lesi sifo sibizwa nangokuthi i-Pearson bone marrow pancreatic syndrome.

Ziyini lezi zimpawu?

Ingane ene-Pearson Syndrome ingabonisa izimpawu ezahlukahlukene. Akuzona zonke izingane ezizoba nazo zonke izimpawu. Kodwa-ke, kunezimpawu ezithile ezivamile.

Izimpawu zokuqala ezibonakalayo

• Ukuphuka kalula: Ngisho neqhubu elincane lingabangela ukuphuka okukhulu noma ukuphuka.
• Ukukhathala nobuthakathaka obuhlala njalo: Ingane ingase izizwe ilala ngaso sonke isikhathi, sengathi ayinawo amandla okudlala.
• Uhudo oluvamile (uhudo): Uhudo luhlala izinsuku eziningana futhi kunzima ukuluyeka.
• Izifo ezivamile: Ukugula ngisho nasezintweni ezincane kakhulu, ukuthola imfiva kanye nomkhuhlane njalo.
• Ukwehluleka kokukhula: Ukungakhuli isikhathi eside noma ukukhuluphala ngokushesha njengabanye abantwana abaneminyaka efanayo. Kufana nokungakhuluphala ngisho nalapho udla.
• Isikhumba esiphaphathekile: Ngenxa yokuntuleka kwegazi emzimbeni, umbala wesikhumba uyashintsha futhi uphaphathekile.
• Ubuthakathaka bemisipha: Izitho zomzimba zizizwa zibuthakathaka futhi zibuthakathaka.
• Ukuhlanza: Ukuhlanza njalo, ukungakwazi ukugcina ukudla okudlayo.
• Ukuphuzi kwesikhumba kanye nokumhlophe kwamehlo (i-jaundice): Lesi sibonakaliso singavela uma ukusebenza kwesibindi kuthinteka.

Ezinye izinkinga ezingase zivele ngokuhamba kwesikhathi

Njengoba uphila nalesi sifo, kungase kuvele izinkinga eziningi ngokuhamba kwesikhathi. Ezinye zazo zifaka:

• Isifo Sikashukela: Isifo sikashukela singakhula ngenxa yokulimala kwe-pancreas.
• Ukulahlekelwa ukuzwa: Ukulahlekelwa ukuzwa kungenzeka kancane kancane.
• I-Kearns-Sayre syndrome: Lesi futhi yisifo se-mitochondrial. Sithinta uhlelo lwezinzwa kanye nenhliziyo.
• Ukuphazamiseka kokunyakaza noma ukuxhuzula: Lokhu kungafaka phakathi ukuthuthumela kanye nokugxumagxuma okungalawuleki kwezitho.
• Izinkinga zokubona: Izimo ezifana nokugoba kwamehlo, i-retinitis pigmentosa, kanye ne-cataracts zingase zivele.

Kungani i-Pearson Syndrome yenzeka?

Sesishilo kakade ukuthi i-Pearson Syndrome ibangelwa ukukhubazeka kwe-DNA ye-mitochondrial (mtDNA) . Khumbula, i-mitochondria yizingxenye ezikhiqiza amandla cishe kuwo wonke amaseli emzimbeni wethu. Ngakho-ke, uma kukhona ukukhubazeka kula ma-mitochondria, amaseli awatholi amandla awadingayo. Khona-ke lawo maseli ayalimala noma afe ngaphambi kwesikhathi.

Cabanga ngale ndlela: Ama-Mitochondria afana nenjini yemoto. Uma kunenkinga ngenjini, imoto ngeke isebenze. Kwenzeka into efanayo nakumaseli.

Ososayensi abakaqondi kahle ukuthi kungani kwenzeka la maphutha e-mitochondrial DNA (mtDNA), nokuthi la maphutha abangela kanjani lezi zimpawu.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Esikhathini esiningi, i-Pearson Syndrome yenzeka ngaphandle kwesizathu esicacile. Okusho ukuthi, ibangelwa ukuguquka kwezakhi zofuzo okungahleliwe. Kodwa-ke, akuvamile kakhulu , ingazuzwa njengefa, okusho ukuthi ingadluliselwa komunye umzali iye komunye. Kodwa izimo ezinjalo azivamile kakhulu, futhi azikaqondakali ngokugcwele.

Odokotela bakuthola kanjani lokhu?

Uma udokotela wakho esola ukuthi ingane yakho ine-Pearson Syndrome, uzoyala ukuhlolwa okuthile. Ezinye zalezi zifo zifaka:

• Ukuhlolwa kwegazi: Hlola inani lamaseli abomvu egazi, amaseli amhlophe egazi, nama-platelet egazini. Hlola futhi nokusebenza kwesibindi nezinso.
• Ukuhlolwa komnkantsha wethambo:Lokhu kuhilela ukuthatha inani elincane lomnkantsha ethangeni noma kwenye indawo efanele ngaphansi komuthi wokubulala izinzwa okhanyayo bese uwuhlola ngaphansi kwe-microscope. Lokhu kungabona ukukhubazeka emangqamuzaneni egazi, njengezikhwama ezigcwele uketshezi ngaphakathi kwamangqamuzana noma ukufakwa kwensimbi emangqamuzaneni abomvu egazi.
• Ukuhlolwa kwendle: Lokhu kusiza ukuthola umbono wokusebenza kwe-pancreas.
• Ukuhlolwa komchamo/umchamo: Kuhlola ukusebenza kwezinso kanye nezinye izinkinga.

Imiphumela yalezi zivivinyo, ikakhulukazi i-bone marrow biopsy, ifundwa ngokucophelela ngudokotela wezifo ukuze kuqinisekiswe ukuthi kutholakale lesi sifo.

Yiziphi izindlela zokwelapha i-Pearson Syndrome?

Ngeshwa, ayikho ikhambi le-Pearson Syndrome. Izindlela zokwelapha zamanje zihlose ukunciphisa izimpawu nokwenza ingane ikhululeke ngangokunokwenzeka. Lokhu kufaka phakathi:

• Ukumpontshelwa igazi: Igazi linikezwa njengendlela yokwelapha izimo ezifana ne-anemia.
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi: Lokhu kubalulekile ekuqiniseni imisipha yengane futhi kuyisize yenze imisebenzi yansuku zonke.
• Ukufakelwa kwamaseli e-stem: Lokhu kwelashwa kungase kuphumelele kwezinye izingane, kodwa kuyindlela yokwelapha eyinkimbinkimbi kakhulu.
• Izithasiselo: Izithasiselo ezifana ne-coenzyme Q10, i-L-carnitine, namavithamini ahlukahlukene zisiza amangqamuzana ukukhiqiza amandla.
• Ukwelashwa kwezifo: Ngenxa yokuthi izifo zenzeka njalo, kunikezwa ama-antibiotics ezifweni ezibangelwa amagciwane kanye nemithi yokulwa namagciwane ezifweni ezibangelwa amagciwane.

Izingane eziphile isikhathi eside zidinga ukubhekwa ochwepheshe abahlukahlukene mayelana nesibindi sazo, izinso, inhliziyo, kanye ne-pancreas, njengoba lezi zitho zingathinteka ngokuhamba kwesikhathi.

Abantu abanalesi simo bangaphila isikhathi esingakanani?

Lokhu kuyinto edabukisayo ukusho. Iningi lezingane ezine-Pearson Syndrome, cishe ingxenye yazo, ziyafa zisencane noma zisencane. Zimbalwa kakhulu ezisindayo zize zibe ngabantu abadala. Lesi sifo singagcina siholele ku-lactic acidosis enkulu (ukunqwabelana kwe-lactic acid egazini) kanye nokwehluleka kwezitho zomzimba.

Ngiyazi ukuthi uzozizwa udabuke kakhulu, wesaba, futhi uphatheke kabi uma uzwa lokhu. Lesi isimo esinzima ngempela ukusibekezelela.

Ubhekana kanjani nesimo esinzima kangaka?

Uma uthola ukuthi ingane yakho ine-Pearson Syndrome, kungaba ukushaqeka nobuhlungu obungabekezeleleki emndenini wonke. Lokho kungokwemvelo.

• Awuwedwa: Okokuqala, khumbula ukuthi awuwedwa kulokhu. Uzungezwe odokotela, abahlengikazi, umndeni nabangane abangakusiza futhi bakuqonde.
• Amaqembu okusekela: Kuneqembu lokusekela elakhiwe abazali bezingane ezinezifo ezingavamile. Ukujoyina elilodwa kungakusiza uzizwe ungedwa kangako. Lapho abanye babelana ngolwazi lwabo, ungathola nenduduzo nemibono.
• Funda, kodwa...: Akuyona isibopho sakho ukufundisa abanye nge-mitochondria kanye ne-Pearson Syndrome. Kunezindawo eziningi zokuthola ulwazi ngayo.
• Cela usizo: Abantu abakuzungezile bangase bazimisele ukukusiza, kodwa bangase bangazi ukuthi kanjani. Cacisa ukuthi yini oyidingayo. Mhlawumbe udinga isikhathi sokuba wedwa nengane yakho, noma udinga nje isikhathi sokuba wedwa. Ungabi namahloni okucela usizo, njengokuya esitolo, ukwenza imisebenzi yasekhaya, noma ukunakekela izingane.
• Ukubhekana nemizwa: Kungaba nzima ukubhekana nemizwa ehambisana nokufunda ukuthi ingane yakho inesifo esisongela impilo. Njengoba lesi sifo singavamile, ungase uzizwe uwedwa nakakhulu. Ekuqaleni, ukuya emaqenjini okusekela afana nalawa nokufuna ulwazi kungase kubonakale kungadingekile. Kungokwemvelo ukufuna ukuchitha isikhathi esiningi ngangokunokwenzeka nengane yakho. Kodwa-ke, khumbula ukuthi kunezindawo lapho ungathola khona usizo olunjalo. Ukusekelwa okunjalo kubaluleke kakhulu ekwabelaneni ngosizi lwakho, ubuhlungu, nokuthola amandla okubhekana nakho.

Khumbula njalo ukuthi "awuwedwa." Ungathola amandla nesiqondiso osidingayo ngodokotela, umndeni, abangani, kanye namanye amaqembu okusekelana.

Ekugcineni, khumbula lokhu.

I-Pearson Syndrome iyisimo esingavamile kodwa esibucayi kakhulu. Sibangelwa inkinga nge-mitochondria, izindawo ezincane zamandla ezinika amandla amangqamuzana ethu. Lokhu kungathinta izitho ezibalulekile njengomongo wethambo wengane kanye ne-pancreas.

• Qaphela izimpawu: Uma ingane yakho inezimpawu ezifana nokukhathala okuqhubekayo, ukuba mhlophe, ukuphuka kalula, noma ukugula okuvamile, funa iseluleko sezokwelapha.
• Ukuxilongwa okunembile kubalulekile: Kudingeka ukuhlolwa okukhethekile ukuze kutholakale isifo esingavamile njengalesi.
• Ukwelashwa kuhloswe ukulawula izimpawu: Nakuba kungekho ukwelashwa okuphelele, kunezindlela zokwelapha zokunciphisa izimpawu nokunikeza ingane impumuzo.
• Ukusekelwa ngokwengqondo kubalulekile: Ukusekelwa ngokwengqondo kubaluleke kakhulu emndenini obhekene nenselele enjalo. Benze bazizwe sengathi ababodwa.

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde lesi simo esingavamile. Uma uneminye imibuzo mayelana nalokhu, sicela ungangabazi ukukhuluma nodokotela wakho.

I- Pearson syndrome, i-mitochondria, umongo wamathambo, i-pancreas, i-anemia, izifo zofuzo, izifo zezingane