Mucopolysaccharidosis nooca II

Mucopolysaccharidosis type II (MPS II) waa cudur dhif ah oo jirku ku maqanyahay ama uusan ku filneyn enzyme loo baahan yahay si loo jajabiyo silsiladaha dhaadheer ee maaddooyinka sonkorta. Silsiladahan mecoculeesyada waxaa loo yaqaan glycosaminoglycans (oo horay loo oran jiray mucopolysaccharides). Natiijo ahaan, moleculesku waxay ku dhismaan qaybaha kala duwan ee jirka waxayna keenaan dhibaatooyin caafimaad oo kala duwan.

Xaaladda waxaa iska leh koox cudurro ah oo loo yaqaan 'mucopolysaccharidoses' (MPSs). MPS II waxaa sidoo kale loo yaqaan Hunter syndrome.

Waxaa jira dhowr nooc oo kale oo MPS ah, oo ay ka mid yihiin:

• MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
• MPS III (Sanfilippo syndrome)
• MPS IV (Morquio syndrome)

MPS II waa cillad la iska dhaxlo. Tan macnaheedu waxa weeye inay u sii gudbiso qoysaska. Hidda-wadaha ay dhibaatadu saameysey wuxuu ku jiraa koromosoomka X. Wiilasha badiyaa waa la saameeyaa maxaa yeelay waxay ka dhaxlaan hooyooyinkood koromosoomka X. Hooyooyinkood ma laha astaamaha cudurka, laakiin waxay wataan nuqul hidde ah oo aan shaqeynayn.

MPS II waxaa sababa la'aanta ah enzyme iduronate sulfatase. Iyadoo aan la helin enzyme-kaan, silsiladaha mecoleelada sonkorta waxay ku soo baxaan unugyo kala duwan oo jirka ah, iyagoo waxyeello keena

Bilawga hore, nooca daran ee cudurka wuxuu bilaabmaa waxyar kadib da'da 2. Bilowga hore, qaabka khafiifka ah wuxuu keenaa calaamado aan sidaa u sii buurnayn inay u muuqdaan nolosha dambe.

Bilowga hore, qaabka daran, astaamaha waxaa kamid ah:

• Dabeecad dagaal
• Kacsanaanta
• Shaqada maskaxdu way kasii xumaataa waqtiga
• Curyaannimo daran oo xagga maskaxda ah
• Dhaqdhaqaaqa jirka ee Jerky

Qaabka dambe (khafiifka ah), waxaa jiri kara khafiif illaa maskax la'aan.

Labada noocba, astaamaha waxaa ka mid ah:

• Cudurka 'tunpal tunnel syndrome'
• Waxyaabaha aan fiicnayn ee wajiga
• Dhago la'aan (waa ka sii xumaataa waqtiga)
• Kordhinta timaha
• Qalafsanaan wadajir ah
• Madax weyn

Baadhitaanka jirka iyo tijaabooyinka ayaa laga yaabaa inay muujiyaan:

• Rinji aan caadi ahayn (isha gadaal)
• Wax-u-dhimista iduronate sulfatase enzyme-ka ku jira dhiigga dhiigga ama unugyada
• Wadne gunuus iyo qallooca wadnaha oo daadanaya
• Beerka oo weynaaday
• Beerka oo weynaaday
• Hernia gumaarka
• Qandaraasyada wadajirka ah (ka adkaanshaha wadajirka ah)

Tijaabooyinka waxaa ka mid noqon kara:

• Daraasada Enzyme
• Tijaabada hidda-socodka ee isbeddelka hidde-wadaha 'sulfronase'
• Tijaabada kaadi ee heparan sulfate iyo dermatan sulfate

Daawada loo yaqaan idursulfase (Elaprase), oo beddeleysa enzyme iduronate sulfatase ayaa lagula talin karaa. Waxaa lagu bixiyaa xididka (IV, intravenously). Wixii macluumaad dheeraad ah kala hadal daryeel caafimaad bixiyahaaga.

Beerista lafta lafta ayaa la isku dayay foomka bilowga hore, laakiin natiijooyinka way kala duwanaan karaan.

Dhibaato kasta oo caafimaad oo uu keeno cudurkan waa in si gooni ah loo daaweeyaa.

Kheyraadkaani waxay bixin karaan macluumaad dheeri ah oo ku saabsan MPS II:

• National MPS Society - mpssociety.org
• Ururka Qaranka ee Dhibaatooyinka Nadir - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• NIH Xarunta Macluumaadka Cudurrada Hiddaha iyo Caadiga - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

Dadka leh foomka bilowga hore (daran) badiyaa waxay noolaadaan 10 ilaa 20 sano. Dadka leh qaab-soo-daahay (khafiif ah) badanaa waxay noolaadaan 20 illaa 60 sano.

Dhibaatooyinkan ayaa dhici kara:

• Xannibaadda Hawada
• Cudurka 'tunpal tunnel syndrome'
• Maqal la'aanta oo kasii daraysa waqtiga
• Lumida awooda dhameystirka howlaha nolol maalmeedka
• Qalafsanaan wadajir ah oo u horseedda qandaraasyo
• Shaqada maskaxda oo ka sii xumaata waqtiga

Wac adeeg bixiyahaaga haddii:

• Adiga ama ilmahaagu waxaad leedihiin koox ka mid ah astaamahan
• Waad ogtahay inaad tahay hidde side oo aad ka fiirsaneyso inaad carruur dhasho

La-talinta hidda-sidaha waxaa lagula talinayaa lammaanaha doonaya inay carruur dhalaan oo taariikh qoys ku leh MPS II. Baaritaanka uurka kahor ayaa la heli karaa. Tijaabada xambaarsan ee dumarka qaraabada ah ee ragga ay dhibaatadu soo gaadhay ayaa sidoo kale la heli karaa.

MPS II; Cudurka Hunter; Cudurka kaydinta ee Lysosomal - nooca loo yaqaan 'mucopolysaccharidosis type II'; Yaraanta yaraanta 2-sulfatase; Yaraanta I2S

Pyeritz RE. Cudurrada laga dhaxlo unugyada isku xira. Gudaha: Goldman L, Schafer AI, eds. Daawada Goldman-Cecil. 25aad. Philadelphia, PA: Elsevier Saunders; 2016: cutubka 260.

Xaraashka JW. Mucopolysaccharidoses. Gudaha: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Buugga Buugga Caafimaadka Caruurta. 21aad ed. Philadelphia, PA: Elsevier; 2020: cutubka 107.

Turnpenny PD, Ellard S. Khaladaadka ku dhasha dheef-shiid kiimikaadka. Gudaha: Turnpenny PD, Ellard S, eds. Emery Qaybaha Cilmiga Genetics-ka Caafimaadka. 15aad. Philadelphia, PA: Elsevier; 2017: cutubka 18.