Kodi Mucopolysaccharidosis ndi chiyani?

Zamkati

• Mitundu ya mucopolysaccharidosis
• Zomwe zingayambitse
• Zizindikiro zake ndi ziti
• Kodi matendawa ndi ati?
• Momwe mankhwalawa amachitikira

Mucopolysaccharidosis imadziwika ndi gulu la matenda obadwa nawo omwe amabwera chifukwa chosowa enzyme, yomwe imagwira ntchito yokumba shuga wotchedwa mucopolysaccharide, wotchedwanso glucosaminoglycan.

Izi ndizosowa komanso zovuta kuzindikira matenda, chifukwa zimawonetsa zizindikilo zofananira kwambiri ndi matenda ena, monga kukulitsa chiwindi ndi ndulu, kufooka kwa mafupa ndi mafupa, kusokonezeka kwamawonedwe komanso mavuto am'mapapo, mwachitsanzo.

Mucopolysaccharidosis ilibe mankhwala, koma chithandizo chitha kuchitidwa chomwe chimachedwetsa kusintha kwa matendawa ndikupereka moyo wabwino kwa munthuyo. Chithandizo chimadalira mtundu wa mucopolysaccharidosis ndipo chitha kuchitidwa m'malo mwa ma enzyme, kupatsira mafuta m'mafupa, chithandizo chamankhwala kapena mankhwala mwachitsanzo.

Mitundu ya mucopolysaccharidosis

Mucopolysaccharidosis itha kukhala yamitundu ingapo, yomwe imakhudzana ndi michere yomwe thupi silingathe kutulutsa, motero kuwonetsa zizindikiritso zosiyanasiyana za matenda aliwonse. Mitundu yosiyanasiyana ya mucopolysaccharidosis ndi iyi:

• Lembani 1: Matenda a Hurler, Hurler-Schele kapena Schele;
• Lembani 2: Matenda a Hunter;
• Lembani 3: Matenda a Sanfilippo;
• Mtundu 4: Matenda a Morquio. Dziwani zambiri za mucopolysaccharidosis mtundu wachinayi;
• Lembani 6: Matenda a Maroteux-Lamy;
• Lembani 7: Matenda a Sly.

Zomwe zingayambitse

Mucopolysaccharidosis ndi matenda obadwa nawo, omwe amatanthauza kuti amapita kuchokera kwa makolo kupita kwa ana ndipo ndi matenda obwerezabwereza autosomal, kupatula mtundu wachiwiri. Matendawa amadziwika ndi kulephera kwa thupi kutulutsa ma enzyme omwe amanyoza mucopolysaccharides.

Mucopolysaccharides ndi shuga wamtali wautali, wofunikira pakupanga matupi osiyanasiyana, monga khungu, mafupa, mafupa ndi minyewa, yomwe imadziunjikira m'matumbawa, koma yomwe imayenera kukonzedwanso. Pachifukwa ichi, ma enzyme amafunikira kuti awaswe, kuti athe kuchotsedwa ndikusinthidwa ndi mucopolysaccharides atsopano.

Komabe, mwa anthu omwe ali ndi mucopolysaccharidosis, ena mwa michereyi sangakhalepo pakuwonongeka kwa mucopolysaccharide, ndikupangitsa kuti kusinthaku kusokonezeke, zomwe zimapangitsa kuti shuga izi zitheke mu lysosomes ya maselo amthupi, zomwe zimawononga magwiridwe ake ndi kupereka kuuka kwa matenda ena ndi malformations.

Zizindikiro zake ndi ziti

Zizindikiro za mucopolysaccharidosis zimadalira mtundu wamatenda omwe munthuyo ali nawo ndipo akupita patsogolo, zomwe zikutanthauza kuti zimawonjezeka matendawa akamakula. Zina mwazizindikiro ndi izi:

• Kukulitsa chiwindi ndi ndulu;
• Kupindika kwa mafupa;
• Mavuto olowa ndi kuyenda;
• Mfupi;
• Matenda opatsirana;
• Chimbudzi kapena inguinal chophukacho;
• Matenda opuma ndi mtima;
• Mavuto akumva ndi zowonera;
• Kugonana;
• Zosintha mu Central Nervous System;
• Mutu wokulitsidwa.

Kuphatikiza apo, anthu ambiri omwe ali ndi matendawa amakhalanso ndi mawonekedwe owonera nkhope.

Kodi matendawa ndi ati?

Nthawi zambiri, kuzindikira kwa mucopolysaccharidosis kumakhala ndi kuwunika kwa zizindikilo ndi mayesero a labotale.

Momwe mankhwalawa amachitikira

Chithandizo chimadalira mtundu wa mucopolysaccharidosis womwe munthuyo ali nawo, momwe matendawa alili komanso zovuta zomwe zimabwera ndipo ziyenera kuchitidwa posachedwa.

Dokotala atha kupereka upangiri wothandizira ma enzyme, kupatsira mafuta m'mafupa kapena magawo azithandizo zakuthupi, mwachitsanzo. Kuphatikiza apo, zovuta zomwe zimayambitsidwa ndi matendawa ziyeneranso kuthandizidwa.