Mofuta oa III oa Mucopolysaccharidosis

Mofuta oa III oa Mucopolysaccharidosis (MPS III) ke lefu le sa tloaelehang leo ho lona 'mele o haellang kapa o se nang li-enzyme tse itseng tse hlokahalang 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 Sanfilippo.

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 IV (lefu la Morquio)

MPS III 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.

MPS III e hlaha ha li-enzyme tse hlokahalang ho theola ketane ea tsoekere ea heparan sulphate li haella kapa ha li na thuso.

Hona le mefuta e mene e meholo ea MPS III. Mofuta oo motho a nang le oona o ipapisitse le enzyme e amehang.

• Mofuta oa A o bakoa ke phoso e hlahang ho SGSH genet mme ke foromo e matla ka ho fetisisa. Batho ba nang le mofuta ona ha ba na mofuta o tloaelehileng oa enzyme e bitsoang heparan N-sulphate.
• Mofuta oa B o bakoa ke sekoli ho file NAGLU liphatsa tsa lefutso. Batho ba mofuta ona ba haella kapa ha ba hlahise alpha- e lekanengN-acetylglucosaminidase.
• Mofuta oa C o bakoa ke sekoli ho file ea HGSNAT liphatsa tsa lefutso. Batho ba nang le mofuta ona ba haella kapa ha ba hlahise acetyl-CoA e lekaneng: alpha-glucosaminide N-acetyltransferase.
• Mofuta oa D o bakoa ke ho senyeha ha file GNS liphatsa tsa lefutso. Batho ba nang le mofuta ona ba haella kapa ha ba hlahise tse lekaneng N-acetylglucosamine 6-sulfatase.

Matšoao hangata a hlaha kamora selemo sa pele sa bophelo. Ho fokotseha ha bokhoni ba ho ithuta hangata ho ba teng lipakeng tsa lilemo tse 2 le 6. Ngoana a ka ba le kholo e tloaelehileng lilemong tsa pele tse 'maloa, empa bolelele ba ho qetela bo ka tlase ho karolelano. Nts'etsopele e liehang e lateloa ke boemo ba kelello bo mpefalang.

Matšoao a mang a kenyeletsa:

• Mathata a boits'oaro, ho kenyeletsoa ho hloka botsitso
• Lifahleho tse mahoashe tse nang le lintši tse boima tse kopanang bohareng ba sefahleho ka holim'a nko
• Letšollo le sa foleng
• Ho eketsa sebete le spleen
• Mathata a ho robala
• Manonyeletso a thata a ka 'nang a se ke a atoloha ka botlalo
• Mathata a pono le tahlehelo ea kutlo
• Mathata a ho tsamaea

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele.

Ho tla etsoa liteko tsa moroto. Batho ba nang le MPS III ba na le mucopolysaccharide e ngata e bitsoang heparan sulfate ka morong.

Liteko tse ling li ka kenyelletsa:

• Tloaelo ea mali
• Echocardiogram
• Ho etsa liteko tsa lefutso
• Khaola tlhahlobo ea mahlo a lebone
• Setso sa letlalo la letlalo
• X-ray ea masapo

Kalafo ea MPS III e reretsoe ho sebetsana le matšoao. Ha ho na kalafo e khethehileng bakeng sa lefu lena.

Bakeng sa tlhaiso-leseling e batsi le tšehetso, ikopanye le o mong oa mekhatlo e latelang:

• Mokhatlo oa Naha oa Mathata a Rare --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• Referense ea Lehae la NIH Genetics - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Sehlopha sa Sanfilippo Foundation - teamanfilippo.org

MPS III e baka matšoao a bohlokoa a sistimi ea methapo, ho kenyeletsoa le bokooa bo matla ba kelello. Boholo ba batho ba nang le MPS III ba phela lilemong tsa bocha. Ba bang ba phela halelele, ha ba bang ba nang le mefuta e matla ba shoa ba sa le banyenyane. Matšoao a matla haholo ho batho ba nang le mofuta oa A.

Mathata ana a ka hlaha:

• Bofofu
• Ho hloleha ho itlhokomela
• Bokooa ba kelello
• Tšenyo ea methapo e ntseng e mpefala butle mme qetellong e hloka tšebeliso ea setulo sa likooa
• Ho oa

Bitsa mofani oa ngoana oa hau haeba ngoana oa hau a sa bonahale a hola kapa a hola ka mokhoa o tloaelehileng.

Bona mofani oa hau haeba u rerile ho ba le bana 'me u na le nalane ea lelapa ea MPS III.

Ho khothaletsoa tlhabollo ea lefutso ho banyalani ba batlang ho ba le bana le ba nang le nalane ea lelapa ea MPS III. Tlhahlobo ea bakhachane e ea fumaneha.

MPS III; Lefu la Sanfilippo; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lefu la ho boloka lysosomal - mofuta oa III 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.