Mofuta oa II oa Mucopolysaccharidosis

Mofuta oa II oa Mucopolysaccharidosis (MPS II) 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 II e boetse e tsejoa e le lefu la Hunter.

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

• MPS I (Lefu la Hurler; Lefu la Hurler-Scheie; Lefu la Scheie)
• MPS III (lefu la Sanfilippo)
• MPS IV (lefu la Morquio)

MPS II ke lefu le futsitsoeng. Sena se bolela hore e fetisoa ke malapa. Lefu le amehileng le ho X chromosome. Bashemane ba ameha hangata hobane ba futsa chromosome ea X ho bo-mme ba bona. Bo-'m'a bona ha ba na matšoao a lefu lena, empa ba na le kopi e sa sebetseng ea lefutso.

MPS II e bakoa ke khaello ea enzyme iduronate sulfatase. Ntle le enzyme ena, liketane tsa limolek'hule tsa tsoekere li ba teng liseleng tse fapaneng tsa 'mele,' me li baka tšenyo.

Mofuta oa lefu lena o qalang kapele, o matla o qala nakoana kamora lilemo tsa 2. Ho qala ho fihla kamora nako, 'mele o bonolo o etsa hore matšoao a seng matla a hlahe hamorao bophelong.

Qalong, sebopeho se matla, matšoao a kenyelletsa:

• Boitšoaro bo mabifi
• Ho hloka botsitso
• Mosebetsi oa kelello o mpefala ha nako e ntse e feta
• Bokooa bo matla ba kelello
• Tsamaiso ea 'mele ea Jerky

Sebakeng sa morao (bonolo), ho ka ba le khaello ea kelello e bonolo.

Ka mefuta ena ka bobeli, matšoao a kenyelletsa:

• Lefu la Carpal tunnel
• Likarolo tse mahoashe tsa sefahleho
• Bokooa (bo mpefala ho feta nako)
• Ho eketseha ha moriri
• Ho satalla ho kopaneng
• Hlooho e kholo

Tlhahlobo ea 'mele le liteko li ka bonts'a:

• Retina e sa tloaelehang (ka morao ho leihlo)
• Ho fokotsa enzyme ea iduronate sulfatase ka serum ea mali kapa liseleng
• Ho korotla ha pelo le li-valve tsa pelo tse dutlang
• Sebete se atolositsoeng
• Spleen e atolositsoeng
• Hernia ka har'a seretse
• Likonteraka tse kopanetsoeng (ho tloha ho satalla ho kopaneng)

Liteko li ka kenyelletsa:

• Boithuto ba enzyme
• Ho etsa liteko tsa lefutso bakeng sa phetoho liphatseng tsa lefutso tsa iduronate sulfatase
• Teko ea moroto bakeng sa heparan sulfate le dermatan sulfate

Ho ka buelloa moriana o bitsoang idursulfase (Elaprase), o nkelang enzyme iduronate sulfatase sebaka. E fanoa ka mothapo (IV, ka methapo). Bua le mofani oa tlhokomelo ea bophelo bakeng sa tlhaiso-leseling e batsi.

Ho 'nile ha lekoa ho kenyelletsa masapo molemong oa ho qala, empa litholoana li ka fapana.

Bothata bo bong le bo bong ba bophelo bo bakoang ke lefu lena bo lokela ho phekoloa ka thoko.

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

• Mokhatlo oa Naha oa MPS - mpssociety.org
• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• Setsi sa Boitsebiso ba Mafu le a Rare a NIH - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

Batho ba nang le foromo ea pele-pele (e matla) hangata ba phela lilemo tse 10 ho isa ho tse 20. Batho ba nang le mofuta oa ho lieha ho fihla (bonolo) hangata ba phela lilemo tse 20 ho isa ho tse 60.

Mathata ana a ka hlaha:

• Tšitiso ea sefofane
• Lefu la Carpal tunnel
• Ho lahleheloa ke kutlo ho ntseng ho mpefala ha nako e ntse e feta
• Ho lahleheloa ke bokhoni ba ho phethela mesebetsi ea letsatsi le letsatsi ea bophelo
• Ho satalla ho kopaneng ho lebisang ho likonteraka
• Mosebetsi oa kelello o mpefala ha nako e ntse e feta

Bitsa mofani oa hau haeba:

• Uena kapa ngoana oa hau le na le sehlopha sa matšoao ana
• Ua tseba hore u motho ea tsamaisang liphatsa tsa lefutso 'me u nahana ho ba le bana

Ho khothaletsoa tlhabollo ea lefutso ho banyalani ba batlang ho ba le bana le ba nang le nalane ea lelapa ea MPS II. Tlhahlobo ea bakhachane e ea fumaneha. Ho etsa liteko tsa bajari bakeng sa beng ka bona ba batona ba amehileng le hona hoa fumaneha.

MPS II; Lefu la Hunter; Lefu la polokelo ea lysosomal - mofuta oa II oa mucopolysaccharidosis; Khaello ea Iduronate 2-sulfatase; Khaello ea I2S

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.