Mofuta oa IV oa Mucopolysaccharidosis

Mofuta oa IV oa Mucopolysaccharidosis (MPS IV) 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 IV e boetse e tsejoa e le lefu la Morquio.

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

MPS IV ke lefu le futsitsoeng. Sena se bolela hore e fetisoa ke malapa. 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. Sena se bitsoa tšobotsi e fetelletseng ea autosomal.

Ho na le mefuta e 'meli ea MPS IV: mofuta oa A le mofuta oa B.

• Mofuta oa A o bakoa ke phoso e hlahang ho MATLOTLO liphatsa tsa lefutso. Batho ba nang le mofuta oa A ha ba na enzyme e bitsoang N-acetylgalactosamine-6-sulfatase.
• Mofuta oa B o bakoa ke sekoli ho file TSEBISO liphatsa tsa lefutso. Batho ba nang le mofuta oa B ha ba hlahise enzyme e lekaneng e bitsoang beta-galactosidase.

'Mele o hloka li-enzyme tsena ho qhaqha likhoele tse telele tsa limolek'hule tsa tsoekere tse bitsoang keratan sulfate. Mefuteng eo ka bobeli, li-glycosaminoglycans tse ngata ka mokhoa o sa tloaelehang li a haha ​​'meleng. Sena se ka senya litho tsa 'mele.

Matšoao hangata a qala pakeng tsa lilemo tse 1 le 3. A kenyeletsa:

• Kholiso e sa tloaelehang ea masapo, ho kenyeletsoa le mokokotlo
• Sefuba se bopehileng joaloka tšepe se nang le likhopo se ile sa hlaha tlase
• Lefu le koahelang
• Lifahleho tsa sefahleho tse mahoashe
• Sebete se atolositsoeng
• Ho korotla ha pelo
• Hernia ka mpeng
• Manonyeletso a Hypermobile
• Kokota mangole
• Hlooho e kholo
• Ho lahleheloa ke tšebetso ea methapo ka tlasa molala
• Sekhutšoane se nang le kutu e khuts'oane haholo
• Meno a arohaneng haholo

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele ho bona matšoao a kenyeletsang:

• Ho kobeha ho sa tloaelehang ha mokokotlo
• Lefu le koahelang
• Ho korotla ha pelo
• Hernia ka har'a seretse
• Sebete se atolositsoeng
• Ho lahleheloa ke tšebetso ea methapo ka tlasa molala
• Nako e khuts'oane (haholo kutu e khuts'oane)

Liteko tsa moroto hangata li etsoa pele. Liteko tsena li ka bonts'a mucopolysaccharides e eketsehileng, empa li ke ke tsa tseba mofuta o khethehileng oa MPS.

Liteko tse ling li ka kenyelletsa:

• Tloaelo ea mali
• Echocardiogram
• Ho etsa liteko tsa lefutso
• Teko ea kutlo
• Tlhahlobo ea mahlo a lebone
• Setso sa letlalo la letlalo
• X-ray ea masapo a malelele, likhopo le mokokotlo
• MRI ea lehata le ka tlase le molala o kaholimo

Bakeng sa mofuta oa A, moriana o bitsoang elosulfase alfa (Vimizim), o nkelang enzyme e lahlehileng sebaka, o ka lekoa. E fanoa ka mothapo (IV, ka methapo). Bua le mofani oa hau bakeng sa tlhaiso-leseling e batsi.

Phekolo ea enzyme ha e fumanehe bakeng sa mofuta oa B.

Bakeng sa mefuta eo ka bobeli, matšoao a phekoloa kamoo a hlahang ka teng. Motsoako oa mokokotlo o ka thibela ts'enyo e sa feleng ea mokokotlo ho batho bao masapo a bona a molala a sa tsoelang pele.

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

• Mokhatlo oa Naha oa MPS - mpssociety.org
• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/morquio-syndrome
• Referense ea Lehae la NIH Genetics - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

Ts'ebetso ea kelello (bokhoni ba ho nahana ka mokhoa o hlakileng) hangata e tloaelehile ho batho ba nang le MPS IV.

Mathata a masapo a ka baka mathata a maholo a bophelo bo botle. Ka mohlala, masapo a manyenyane a ka holim’a molala a ka ’na a thella le ho senya lesapo la mokokotlo, a baka ho shoa litho. Ho buoa ho lokisa mathata a joalo ho lokela ho etsoa ha ho khonahala.

Mathata a pelo a ka lebisa lefung.

Mathata ana a ka hlaha:

• Mathata a phefumolohang
• Ho hloleha ha pelo
• Tšenyo ea mokokotlo le ho holofala ho ka bang teng
• Mathata a pono
• Mathata a ho tsamaea a amanang le ho kobeha ho sa tloaelehang ha mokokotlo le mathata a mang a masapo

Bitsa mofani oa hau haeba matšoao a MPS IV a etsahala.

Tlhabollo ea lefutso e khothalletsoa banyalani ba batlang ho ba le bana le ba nang le nalane ea lelapa ea MPS IV. Tlhahlobo ea bakhachane e ea fumaneha.

MPS IV; Lefu la Morquio; Mofuta oa Mucopolysaccharidosis IVA; MPS IVA; Khaello ea Galactosamine-6-sulfatase; Mofuta oa Mucopolysaccharidosis IVB; MPS IVB; Khaello ea Beta galactosidase; Lefu la ho boloka lysosomal - mofuta oa IV oa mucopolysaccharidosis

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.