Mofuta oa Mucopolysaccharidosis I

Mofuta oa Mucopolysaccharidosis I (MPS I) ke lefu le sa tloaelehang leo ho lona 'mele o haellang kapa o se nang enzyme e lekaneng ho theola liketane tse telele tsa limolek'hule tsa tsoekere. Liketane tsena tsa limolek'hule li bitsoa glycosaminoglycans (eo pele e neng e bitsoa mucopolysaccharides). Ka lebaka leo, limolek'hule li haella likarolong tse fapaneng tsa 'mele' me li baka mathata a fapaneng a bophelo.

Boemo bona ke ba sehlopha sa mafu a bitsoang mucopolysaccharidoses (MPSs). MPS I ke eona e atileng ka ho fetisisa.

Ho na le mefuta e meng e mengata ea li-MPS, ho kenyeletsoa:

• MPS II (lefu la Hunter)
• MPS III (lefu la Sanfilippo)
• MPS IV (lefu la Morquio)

MPS ke lefa, ho bolelang hore batsoali ba hau ba tlameha ho u fetisetsa lefu lena. Haeba batsoali ka bobeli ba jere kopi e sa sebetseng ea lefutso e amanang le boemo bona, ngoana e mong le e mong oa bona o na le monyetla oa 25% (1 ho 4) oa ho ba le lefu lena.

Batho ba nang le MPS ha ke etse enzyme e bitsoang lysosomal alpha-L-iduronidase. Enzyme ena e thusa ho theola liketane tse telele tsa limolek'hule tsa tsoekere tse bitsoang glycosaminoglycans. Limolek'hule tsena li fumaneha hohle 'meleng, hangata li le ka har'a mameno le mokelikeli o potileng manonyeletso.

Ntle le enzyme, li-glycosaminoglycans lia haha ​​le ho senya litho, ho kenyeletsoa le pelo. Matšoao a ka tloha bobeng ho ea bohlokong. Foromo e bonolo e bitsoa MPS e fokolitsoeng 'me mofuta o thata o bitsoa MPS I.

Matšoao a li-MPS hangata ke hlaha lipakeng tsa lilemo tse 3 ho isa ho tse 8. Bana ba nang le li-MPS tse matla ke ba le matšoao kapele ho feta ba nang le foromo e seng matla haholo.

Matšoao a mang a kenyelletsa:

• Masapo a sa tloaelehang mokokotlong
• Ho hloleha ho bula menoana ka botlalo (claw hand)
• Li-corneas tse koahetsoeng ke maru
• Ho se utloe litsebeng
• Ho emisa kholo
• Mathata a li-valve tsa pelo
• Maloetse a kopaneng, ho kenyelletsa le ho satalla
• Bokooa ba kelello bo ntseng bo mpefala ha nako e ntse e feta ho MPS I e matla
• Botenya, mahoashe sefahleho le borokho bo tlase ba nko

Linaheng tse ling, masea a lekoa bakeng sa MPS I e le karolo ea liteko tsa masea a sa tsoa tsoaloa.

Liteko tse ling tse ka etsoang ho latela matšoao, li kenyelletsa:

• ECG
• Ho hlahloba liphatsa tsa lefutso bakeng sa liphetoho ho lefutso la alpha-L-iduronidase (IDUA)
• Liteko tsa moroto bakeng sa mucopolysaccharides e eketsehileng
• X-ray ea mokokotlo

Phekolo ea enzyme e ka buelloa. Moriana, o bitsoang laronidase (Aldurazyme), o fanoa ka mothapo (IV, ka methapo). E nkela enzyme e lahlehileng sebaka. Bua le mofani oa ngoana oa hau bakeng sa tlhaiso-leseling e batsi.

Ho 'nile ha lekoa ho kenyelletsa masapo. Phekolo e bile le litholoana tse fapaneng.

Kalafo e meng e latela litho tse amehileng.

Lisebelisoa tsena li ka fana ka tlhaiso-leseling e batsi ka MPS I:

• Mokhatlo oa Naha oa MPS - mpssociety.org
• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• Setsi sa Boitsebiso ba Mafu a Rare le Mafu a Rare - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

Bana ba nang le li-MPS tse matla hangata ha ke sebetse hantle. Mathata a bona a bophelo a mpefala ha nako e ntse e feta, a baka lefu ka lilemo tse 10.

Bana ba nang le li-MPS tse fokolitsoeng ba na le mathata a fokolang a bophelo bo botle, 'me ba bangata ba phela bophelo bo tloaelehileng ho ba batho ba baholo.

Bitsa mofani oa hau haeba:

• U na le nalane ea lelapa ea MPS I mme u nahana ho ba le bana
• Ngoana oa hau o qala ho bontša matšoao a MPS I

Litsebi li khothaletsa tlhabollo le tlhatlhobo ea lefutso ho banyalani ba nang le nalane ea lelapa ea MPS I ba nahanang ho ba le bana. Tlhahlobo ea bakhachane e ea fumaneha.

Khaello ea Alpha-L-iduronate; Mofuta oa Mucopolysaccharidosis I; MPS e matla I; Litokelo tsa MPS I; MPS I H; MPS I S; Lefu la Hurler; Lefu la Scheie; Lefu la Hurler-Scheie; MPS 1 H / S; Lefu la ho boloka lysosomal - mofuta oa mucopolysaccharidosis I

• Borokho bo tlase ba nko

Pyeritz RE. Lefu le futsitsoeng la lisele tse sebetsang. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: khaolo ea 260.

Spranger JW. Mucopolysaccharidoses. Ka: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 107.

Turnpenny PD, Ellard S. Liphoso tsa tlhaho ea metabolism. Ka: Turnpenny PD, Ellard S, bahlophisi. Lintho tsa Emery tsa Bongaka ba Liphatsa tsa lefutso. 15th ed. Philadelphia, PA: Elsevier; 2017: khaolo ea 18.