Ese umwana wawe afite ibi bimenyetso? Reka tumenye Pearson Syndrome

Ese umwana wawe ahora arwaye? Ese asa n'unaniwe? Ese rimwe na rimwe arwara ibisebe byoroshye? Nubwo ibi bishobora gusa n'ibisanzwe, rimwe na rimwe hashobora kuba hari impamvu ikomeye inyuma y'ibi tutazi. Uyu munsi tugiye kuvuga ku ndwara idasanzwe ariko ikomeye cyane. Iyo ni indwara yitwa Pearson Syndrome.

Indwara ya Pearson Syndrome ni iki?

Mu magambo make, Pearson Syndrome ni indwara idasanzwe kandi ikomeye ya mitochondria. Noneho ushobora kuba wibaza ibyo mitochondria ari byo. Tekereza ko buri karemangingo ko mu mubiri wacu kameze nk'uruganda ruto. Utu turemangingo dukeneye ingufu kugira ngo dukore. Ibice bituma izo ngufu, nk'inganda nto zitanga ingufu, byitwa mitochondria. Ni mitochondria ihindura ibiryo turya mo ingufu kandi igatanga ingufu zikenewe kugira ngo buri rugingo n'imikorere y'umubiri wacu, nk'umwijima, umutima, n'ubwonko, bikore.

Ku mwana urwaye Pearson Syndrome, hari impinduka zimwe na zimwe, cyangwa impinduka, mu bigize imiterere y’uturemangingo muri iyo mitochondria, ni ukuvuga ADN ya mitochondria. Ibi bibuza uturemangingo gukora ingufu neza. Ibi bigira ingaruka cyane cyane ku ngingo z’ingenzi z’umwana nka umworo w’amagufwa, pancreas n’umwijima.

Iyi ndwara ikunze gupimwa mu bwana. Ishobora gutera ibibazo bitandukanye mu maraso y'umwana. Urugero:

• Kugabanuka k'uturemangingo dutukura tw'amaraso, ni ukuvuga kubura amaraso .
• Kugabanuka kw'uturemangingo tw'amaraso twera, ni ukuvuga neutropenia .
• Kugabanuka kwa platelets (uturemangingo dufasha kubumba amaraso), bizwi nka thrombocytopenia .

Iyi ndwara yitwa kandi Pearson bone marrow pancreatic syndrome.

Ibi bimenyetso ni ibihe?

Umwana urwaye Pearson Syndrome ashobora kugaragaza ibimenyetso bitandukanye. Si buri mwana wese uzagira ibimenyetso byose. Ariko hari ibimenyetso bimwe na bimwe bisanzwe.

Ibimenyetso bya mbere bigaragara

• Gukomeretsa byoroshye: Ndetse n'igisebe gito gishobora gutera igisebe kinini cyangwa igisebe.
• Umunaniro n'intege nke bihoraho: Umwana ashobora kumva asinziriye igihe cyose, nk'aho adafite imbaraga zo gukina.
• Impiswi ikunze kugaragara (diarrhea): Impiswi imara iminsi myinshi kandi biragoye kuyihagarika.
• Indwara zikunze kugaragara: Kurwara no mu bintu bito cyane, kurwara umuriro n'ibicurane kenshi.
• Kunanirwa gukura: Kudakura muremure cyangwa kwiyongera ibiro vuba nk'abandi bana b'ikigero kimwe. Ni nko kutagira ibiro byinshi ndetse no mu gihe cyo kurya.
• Uruhu rwerurutse: Kubera kubura amaraso mu mubiri, ibara ry'uruhu rirahinduka kandi rikarushaho kuba ibara ry'uruhu.
• Intege nke z'imitsi: Amaguru yumva adafite imbaraga kandi arembye.
• Kuruka: Kuruka kenshi, kudashobora kugabanya ibyo urya.
• Umuhondo w'uruhu n'umweru by'amaso (jaundice): Iki kimenyetso gishobora kubaho iyo imikorere y'umwijima yangiritse.

Ibindi bibazo bishobora kuvuka uko igihe kigenda

Uko ubana n'iyi ndwara, ingorane nyinshi zishobora kuvuka uko igihe kigenda gihita. Zimwe muri zo zirimo:

• Diyabete: Diyabete ishobora kwandura bitewe no kwangirika kwa pancreas.
• Gutakaza amatwi: Gutakaza amatwi bishobora kubaho buhoro buhoro.
• Kearns-Sayre syndrome: Iyi nayo ni indwara ifata mitochondrial. Igira ingaruka ku mitsi n'umutima.
• Indwara zo kugenda cyangwa gucika intege: Ibi bishobora kuba birimo kunyeganyega no gutitira amaguru n'amaboko mu buryo butagenzurwa.
• Ibibazo byo kureba: Indwara nk'iz'amaso zihumye, retinitis pigmentosa, na cataract zishobora kubaho.

Kuki Pearson Syndrome ibaho?

Twavuze ko Pearson Syndrome iterwa n'ubusembwa bwa ADN ya mitochondrial (mtDNA) . Wibuke ko mitochondria ari ibice bitanga ingufu hafi ya buri turemangingo two mu mubiri wacu. Rero, iyo habayeho inenge muri izi mitochondria, uturemangingo ntitubona ingufu dukeneye. Hanyuma utwo turemangingo turangirika cyangwa tugapfa imburagihe.

Tekereza kuri ubu buryo: Mitochondria ni nk'umuyoboro w'imodoka. Iyo moteri igize ikibazo, imodoka ntikora. Ibyo ni nako bigenda ku turemangingo.

Abahanga mu bya siyansi ntibarasobanukirwa neza impamvu izi nenge za ADN (mtDNA) zibaho, n'uburyo izi nenge zitera izi bimenyetso.

Ese ibi ni ibintu bikomoka ku bisekuruza?

Akenshi, Pearson Syndrome ibaho nta mpamvu igaragara. Ni ukuvuga ko iterwa n'impinduka mu miterere y'uturemangingo. Ariko, ni gake cyane , ishobora kuragwa, bivuze ko ishobora guhererekanywa kuva ku mubyeyi umwe ijya ku wundi. Ariko bene ibyo bihe ni gake cyane, kandi ntibirasobanuka neza.

Abaganga babibona bate ibi?

Niba umuganga wawe akeka ko umwana wawe afite Pearson Syndrome, azagutegeka gupimwa bimwe na bimwe. Bimwe muri ibyo birimo:

• Ibizamini by'amaraso: Reba umubare w'uturemangingo dutukura tw'amaraso, uturemangingo twera tw'amaraso, n'uturemangingo twa plaquettes mu maraso. Reba kandi imikorere y'umwijima n'impyiko.
• Isuzuma ry'umusemburo w'amagufwa:Ibi bikubiyemo gufata umwongo muke mu kibuno cyangwa ahandi hantu hakwiye ukoresheje umuti woroshye wo kugabanya ububabare hanyuma ukawusuzuma ukoresheje mikorosikopi. Ibi bishobora kugaragaza ibitagenda neza mu turemangingo tw’amaraso, nko mu dufuka twuzuyemo amazi mu turemangingo cyangwa mu duce tw’icyuma dutukura.
• Ikizamini cy'imyenge: Ibi bifasha kumenya imikorere ya pancreas.
• Isuzuma ry'inkari/isuzuma ry'inkari: Risuzuma imikorere y'impyiko n'ibindi bibazo.

Ibisubizo by'ibi bizamini, cyane cyane biopsy y'umusemburo w'amagufwa, byigwa neza n'inzobere mu ndwara kugira ngo byemeze ko byagaragaye.

Ni ubuhe buryo bwo kuvura Pearson Syndrome?

Ikibabaje ni uko nta muti uhari wa Pearson Syndrome. Ubu buryo bwo kuvura bugamije kugabanya ibimenyetso no gutuma umwana yumva amerewe neza uko bishoboka kose. Harimo:

• Guterwa amaraso: Amaraso atangwa mu rwego rwo kuvura indwara nka anemia.
• Ubuvuzi bw'umubiri n'ubuvuzi bw'akazi: Ibi ni ingenzi mu gukomeza imitsi y'umwana no kumufasha gukora imirimo ya buri munsi.
• Gutera uturemangingo tw’inyuma: Ubu buryo bwo kuvura bushobora kugira icyo bugeraho ku bana bamwe, ariko ni uburyo bugoye cyane bwo kuvura.
• Inyongeramusaruro: Inyongeramusaruro nka coenzyme Q10, L-carnitine, na vitamine zitandukanye bifasha uturemangingo gukora ingufu.
• Kuvura indwara zandura: Kubera ko indwara zikunze kugaragara, imiti yica udukoko ikoreshwa mu kwandura bagiteri itangwa n'imiti yica udukoko ikoreshwa mu kwandura virusi.

Abana babayeho mbere y’ubuto bwabo bagomba gukurikiranwa n’inzobere zitandukanye ku bijyanye n’umwijima wabo, impyiko, umutima, na pancreas, kuko izi ngingo zishobora no kugira ingaruka uko igihe kigenda gihita.

Abantu bafite iyi ndwara bashobora kubaho igihe kingana iki?

Ibi birababaje kuvuga. Abana benshi barwaye Pearson Syndrome, hafi kimwe cya kabiri, bapfa bakiri bato cyangwa bakiri bato. Bake cyane ni bo barokoka kugeza bakuze. Iyi ndwara ishobora gutera aside lacticosis ikomeye (kwiyongera kwa aside lactic mu maraso) no kunanirwa kw'ingingo.

Ndabizi ko uzumva ubabaye cyane, ufite ubwoba, kandi ubabaye niwumva ibi. Iki ni ikibazo gikomeye cyane kwihanganira.

Ubigenza ute mu gihe nk'iki kigoye?

Iyo umenye ko umwana wawe afite Pearson Syndrome, bishobora kuba ihungabana rikomeye n'ububabare ku muryango wose. Ibyo ni ibisanzwe.

• Nturi wenyine: Icya mbere, ibuka ko utanyura muri ibi wenyine. Ukikijwe n'abaganga, abaforomo, umuryango n'inshuti bashobora kugufasha no kukumva.
• Amatsinda yo gushyigikira: Hari amatsinda yo gushyigikira yashinzwe n'ababyeyi b'abana bafite indwara zidasanzwe. Kwinjira muri rimwe bishobora kugufasha kumva uri wenyine. Iyo abandi basangije ibyababayeho, ushobora no kubona ihumure n'ibitekerezo.
• Iga, ariko...: Si inshingano zawe kwigisha abandi ibyerekeye mitochondria na Pearson Syndrome. Hari ahantu henshi ho gusanga amakuru kuri yo.
• Saba ubufasha: Abantu bagukikije bashobora kuba biteguye kugufasha, ariko bashobora kutamenya uburyo bwo kugufasha. Garagaza neza icyo ukeneye. Wenda ukeneye umwanya wo kuba wenyine n'umwana wawe, cyangwa ukeneye umwanya wo kuba wenyine. Ntugatinye gusaba ubufasha, nko kujya mu iduka, gukora imirimo yo mu rugo, cyangwa kwita ku bana.
• Guhangana n'amarangamutima: Bishobora kugorana guhangana n'amarangamutima aterwa no kumenya ko umwana wawe afite indwara ishobora kumuhitana. Kubera ko iyi ndwara idakunze kubaho, ushobora kumva uri wenyine kurushaho. Mu ntangiriro, kujya mu matsinda y'ubufasha nk'aya no gushaka amakuru bishobora gusa nkaho bitari ngombwa. Ni ibisanzwe gushaka kumarana igihe kinini n'umwana wawe uko bishoboka kose. Ariko, ibuka ko hari ahantu ushobora kubona ubufasha nk'ubwo. Ubufasha nk'ubwo ni ingirakamaro cyane mu gusangira agahinda kawe, ububabare bwawe, no kubona imbaraga zo guhangana nabwo.

Buri gihe ibuka ko "utari wenyine." Ushobora kubona imbaraga n'ubuyobozi ukeneye binyuze mu baganga, umuryango, inshuti, n'andi matsinda y'abaterankunga.

Amaherezo, ibuka ibi.

Indwara ya Pearson Syndrome ni indwara idasanzwe ariko ikomeye cyane. Iterwa n'ikibazo cya mitochondria, ari zo ngirabuzimafatizo nto zitanga imbaraga ku turemangingo twacu. Ibi bishobora kugira ingaruka ku ngingo z'ingenzi nk'umusemburo w'amagufwa y'umwana na pancreas.

• Menya ibimenyetso: Niba umwana wawe afite ibimenyetso nko kugira umunaniro uhoraho, kutagira uruhu, gucika intege byoroshye, cyangwa indwara zikunze kugaragara, shaka ubufasha kwa muganga.
• Gusuzuma indwara neza ni ingenzi: Hakenewe ibizamini byihariye kugira ngo hamenyekane indwara idakunze kugaragara nk'iyi.
• Ubuvuzi bugamije kurwanya ibimenyetso: Nubwo nta muti wuzuye uhari, hari uburyo bwo kugabanya ibimenyetso no gutanga ihumure ku mwana.
• Ubufasha mu by'imitekerereze ni ingenzi: Ubufasha mu by'imitekerereze ni ingenzi cyane ku muryango uhanganye n'ikibazo nk'iki. Batume bumva ko batari bonyine.

Ndizera ko aya makuru yagufashije gusobanukirwa neza iyi ndwara idasanzwe. Niba ufite ikindi kibazo kuri iyi ndwara, nyamuneka ntutindiganye kuvugana na muganga wawe.

Pearson syndrome, mitochondria, umwongo w'amagufwa, pancreas, kubura amaraso, indwara z'uturemangingo, indwara z'abana