Mucopolysaccharidosis mhando III

Mucopolysaccharidosis mhando III (MPS III) hosha isingawanzo iyo muviri unoshaikwa kana isina kukwana mamwe maenzymes anodikanwa kukamura ngetani refu dzemamorekuru eshuga. Aya ngetani emamorekuru anonzi glycosaminoglycans (yaimbove inonzi mucopolysaccharides). Nekuda kweizvozvo, mamorekuru anovakwa munzvimbo dzakasiyana dzemuviri uye zvinokonzeresa matambudziko akasiyana ehutano.

Mamiriro acho ndeweboka rezvirwere zvinodaidzwa kuti mucopolysaccharidoses (MPSs). MPS II inozivikanwawo seSanfilippo syndrome.

Kune mamwe marudzi akati wandei emaMPS, anosanganisira:

• MPS I (Hurler chirwere; Hurler-Scheie syndrome; Scheie syndrome)
• MPS II (Hunter chirwere)
• MPS IV (Morquio syndrome)

MPS III idambudziko rekugara nhaka. Izvi zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Kana vese vabereki vakatakura kopi isingashande yegene inoenderana nemamiriro aya, mumwe nemumwe wevana vavo ane 25% (1 mu4) mukana wekuvandudza chirwere. Izvi zvinodaidzwa kuti autosomal recessive hunhu.

MPS III inoitika apo ma enzymes anodikanwa kupaza iyo heparan sulphate shuga cheni isipo kana yakaremara.

Kune mhando ina dzakakosha dzeMPS III. Rudzi rune munhu runobva pane iyo enzyme inobatika.

• Type A inokonzerwa nehurema mu SGSH geni uye ndiyo yakaoma fomu. Vanhu vane mhando iyi havana chimiro chakajairika cheiyo enzyme inonzi heparan N-sulfatase.
• Type B inokonzerwa nehurema mu NAGLU geni. Vanhu vane mhando iyi vanoshaya kana havaunze zvakakwana alpha-N-acetylglucosaminidase.
• Type C inokonzerwa nehurema mu HGSNAT geni. Vanhu vane mhando iyi vanoshayikwa kana vasingagadzire zvakakwana acetyl-CoA: alpha-glucosaminide N-acetyltransferase.
• Type D inokonzerwa nehurema mu GNS geni. Vanhu vane mhando iyi vanoshaya kana vasingaburitsi zvakakwana N-acetylglucosamine 6-sulfatase.

Zviratidzo zvinowanzoonekwa mushure megore rekutanga rehupenyu. Kudzikira kwekugona kwekudzidza kunowanzoitika pakati pemakore maviri ne6. Mwana anogona kuve neyakajairika kukura mukati memakore mashoma ekutanga, asi kureba kwekupedzisira kuri pazasi pevhareji. Kunonoka kukura kunoteverwa nekuwedzera mamiriro epfungwa.

Zvimwe zviratidzo zvinogona kusanganisira:

• Matambudziko ekuzvibata, kusanganisira kusagadzikana
• Yakakora kumeso maficha ane anorema tsiye dzinosangana pakati pechiso pamusoro pemhino
• Chirwere chisingaperi
• Yakawedzera chiropa uye spleen
• Kurara matambudziko
• Mapfundo akaomarara ayo anogona kutadza kuwedzera zvizere
• Matambudziko ekuona uye kurasikirwa kwekunzwa
• Matambudziko ekufamba

Anopa hutano anoita bvunzo dzepanyama.

Weti miedzo ichaitwa. Vanhu vane MPS III vane huwandu hwakawanda hwemucopolysaccharide inonzi heparan sulfate mumurini.

Mimwe bvunzo inogona kusanganisira:

• Tsika yeropa
• Echocardiogram
• Kuongorora genetic
• Cheka rambi ziso bvunzo
• Ganda fibroblast tsika
• X-ray yemapfupa

Kurapa kweMPS III kunoitirwa kugadzirisa zviratidzo. Iko hakuna chaiyo kurapwa kwechirwere ichi.

Kuti uwane rumwe ruzivo uye rutsigiro, bata imwe yemasangano anotevera:

• National Sangano reRare Dambudziko --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Chikwata Sanfilippo Foundation - teamanopilippo.org

MPS III inokonzeresa zvakakosha zviratidzo zvehurongwa hwetsinga, kusanganisira hurema hwakanyanya hwepfungwa Vazhinji vanhu vane MPS III vanorarama mumakore avo ekuyaruka. Vamwe vanorarama kwenguva yakareba, nepo vamwe vane mafomu akakomba vanofa pazera rekutanga. Zviratidzo zvakanyanyisa kune vanhu vane mhando A.

Aya matambudziko anogona kuitika:

• Bofu
• Kutadza kuzvitarisira
• Urema hwekuziva
• Kukuvara kwemitsipa kunowedzera zvishoma nezvishoma uye pakupedzisira kunoda kushandisa wiricheya
• Kufenda

Fonera mupi wemwana wako kana mwana wako asingaite kunge ari kukura kana kukura zvakajairika.

Ona mupi wako kana uchironga kuita vana uye une nhoroondo yemhuri yeMPS III.

Genetic counselling inokurudzirwa kune vakaroorana vanoda kuve nevana uye vane nhoroondo yemhuri yeMPS III. Kuongororwa kwepamuviri kunowanikwa.

MPS III; Sanfilippo chirwere; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal kuchengetedza chirwere - mucopolysaccharidosis mhando III

Pyeritz RE. Nhaka yezvirwere zvezvibatanidza. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: chitsiko 260.

Mushambadzi JW. Mucopolysaccharidoses. Mune: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 107.

Turnpenny PD, Ellard S. Zvikanganiso zvekuzvarwa kwemetabolism.Mune: Turnpenny PD, Ellard S, eds. Zvinhu zveEmery zveMedical Genetics. Wechi15 ed. Philadelphia, PA: Elsevier; 2017: chits. 18.