Mucopolysaccharidosis nooca III

Mucopolysaccharidosis nooca III (MPS III) waa cudur dhif ah oo jirku ku maqanyahay ama uusan ku filneyn enzymes gaar ah oo loo baahan yahay si loo jebiyo silsiladaha dhaadheer ee maadooyinka 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 Sanfilippo 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 II (Hunter syndrome)
• MPS IV (Morquio syndrome)

MPS III waa cillad la iska dhaxlo. Tan macnaheedu waxa weeye inay u sii gudbiso qoysaska. Haddii labada waalidba ay wataan nuqul aan shaqeynayn oo ah hiddo-wadaha la xiriira xaaladdan, mid kasta oo ka mid ah carruurtooda ayaa leh 25% (1 ka mid ah 4-tiiba) fursadda ah inuu ku dhaco cudurka. Tan waxaa loo yaqaan 'autosomal recessive reitive'.

MPS III waxay dhacdaa markii enzymes-ka loo baahan yahay in la jajabiyo silsiladda sonkorta ee heparan ay maqan tahay ama cilladaysan tahay.

Waxaa jira afar nooc oo waaweyn oo ah MPS III. Nooca qofku qabo waxay kuxirantahay nooca enzyme-ka ay saameyso.

• Nooca A waxaa sababa cillad ku jirta SGSH hiddo sidaha waana qaabka ugu daran. Dadka nuucaan ah ma lahan qaab caadi ah enzyme loo yaqaan heparan N-sulfaata.
• Nooca B waxaa sababa cillad ku jirta NAGLU hiddo-wadaha Dadka noocan ah ayaa la la'yahay ama aan soo saarin alfa-N-acetylglucosaminidase.
• Nooca C waxaa sababa cillad ku jirta HGSNAT hiddo-wadaha Dadka noocan ah way maqan yihiin ama ma soo saaraan acetyl-CoA ku filan: alpha-glucosaminide N-acetyltransferase.
• Nooca D waxaa keena cillad ku jirta GNS hiddo-wadaha Dadka nuucaan ah ayaa la la'yahay ama aan soo saarin wax ku filan N-acetylglucosamine 6-sulfatase.

Astaamuhu badanaa waxay soo baxaan sanadka koowaad ee nolosha kadib. Hoosudhaca awooda barashada waxay caadi ahaan dhacdaa inta udhaxeysa 2 ilaa 6 sano. Canuga waxaa laga yaabaa inuu yeesho koritaan caadi ah sannadaha ugu horeeya, laakiin dhererka ugu dambeeya wuxuu ka hooseeyaa celceliska. Horumarka dib u dhaca waxaa ku xiga xaalad maskaxeed oo ka sii daraysa.

Calaamadaha kale waxaa ka mid noqon kara:

• Dhibaatooyinka habdhaqanka, oo ay ka mid tahay buurnida
• Astaamaha wajiga oo kacsan oo leh sunnayaasha culus ee ku kulmaya bartamaha wajiga sanka korkiisa
• Shuban joogto ah
• Beerka iyo beeryarada oo weynaaday
• Dhibaatooyinka hurdada
• Kala-goysyada adag ee laga yaabo inaanay si buuxda u kordhin
• Dhibaatooyinka aragga iyo maqal la'aanta
• Dhibaatooyinka socodka

Bixiyaha xanaanada caafimaadka ayaa sameyn doona baaritaan jireed.

Tijaabooyin kaadi ayaa la sameyn doonaa. Dadka qaba MPS III waxay leeyihiin qadar badan oo ah mucopolysaccharide oo loo yaqaan heparan sulfate kaadida.

Tijaabooyinka kale waxaa ka mid noqon kara:

• Dhaqanka dhiigga
• Echocardiogram
• Tijaabada hidaha
• Shumaca isha isha
• Dhaqanka fibroblastka maqaarka
• Raajooyinka lafaha

Daaweynta MPS III waxaa loogu talagalay maaraynta astaamaha. Ma jiro daaweyn gaar ah oo cudurkan ah.

Wixii macluumaad dheeraad ah iyo taageero, la xiriir mid ka mid ah ururada soo socda:

• Ururka Qaranka ee Dhibaatooyinka Naadiga ah --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• NIH Genetics Reference Home - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Kooxda Sanfilippo Foundation - teamsanfilippo.org

MPS III waxay sababtaa astaamaha nidaamka dareemayaasha ee muhiimka ah, oo ay kujiraan naafonimo maskaxeed oo daran. Dadka intooda ugu badan ee qaba MPS III waxay ku noolyihiin da'da dhallinyarnimada. Qaarkood way sii cimri dheeraadaan, halka kuwa kale oo qaabab daran ay ku dhintaan da 'hore. Calaamadaha ayaa ugu daran dadka qaba nooca A.

Dhibaatooyinkan ayaa dhici kara:

• Indho la’aan
• Awood la'aanta daryeelka naftaada
• Naafo maskaxeed
• Dhaawaca neerfaha oo si tartiib tartiib ah uga sii daraya aakhirkiina u baahan isticmaalka kursi curyaan
• Suuxdin

Wac daryeel bixiyaha ilmahaaga haddii ilmahaagu aanu u muuqan inuu korayo ama u kobcayo si caadi ah.

U tag daryeel bixiyahaaga haddii aad qorsheyneyso inaad carruur dhasho oo aad leedahay taariikh qoys oo ah MPS III.

La-talinta hidda-sidaha waxaa lagula talinayaa lammaanaha doonaya inay carruur dhalaan oo taariikh qoys ku leh MPS III. Baaritaanka uurka kahor ayaa la heli karaa.

MPS III; Sanfilippo syndrome; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Cudurka kaydinta Lysosomal - nooca loo yaqaan 'mucopolysaccharidosis type III'

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.