Mucopolysaccharidosis mhando IV

Mucopolysaccharidosis mhando IV (MPS IV) chirwere chisina kujairika umo muviri unoshaikwa kana kushaya enzyme inodiwa kuputsa 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 IV inozivikanwawo seMorquio syndrome.

Kune mamwe marudzi akati wandei emaMPS, anosanganisira:

• MPS I (Hurler chirwere; Hurler-Scheie syndrome; Scheie syndrome)
• MPS II (Hunter chirwere)
• MPS III (Sanfilippo chirwere)

MPS IV chirwere chakagara 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.

Kune maviri mafomu eMPS IV: mhando A uye mhando B.

• Type A inokonzerwa nehurema mu GALNS geni. Vanhu vane type A havana enzyme inonzi N-acetylgalactosamine-6-sulfatase.
• Type B inokonzerwa nehurema mu GLB1 geni. Vanhu vane mhando B havabudise zvakakwana enzyme inonzi beta-galactosidase.

Mutumbi unoda ma enzymes aya kuti aputse tambo refu dzeshuga mamorekuru anonzi keratan sulfate. Mumarudzi ese ari maviri, akawandisa akaenzana eglycosaminoglycans anovaka mumuviri. Izvi zvinogona kukuvadza nhengo.

Zviratidzo zvinowanzotanga pakati pemakore 1 ne3. Zvinosanganisira:

• Kukura kusina kujairika kwemapfupa, kusanganisira musana
• Chipfuva chakaita sebhero chine mbabvu dzakabuda panze
• Cloudy cornea
• Yakakomba kumeso maficha
• Yakawedzera chiropa
• Moyo kugunun'una
• Hernia mune kugomera
• Hypermobile majoini
• Kugogodza-mabvi
• Musoro muhombe
• Kurasikirwa kwehutano pasi pehuro
• Pfupi chimiro chine rakapfupika hunde
• Mazino akapararira

Anopa hutano anozoongorora muviri kuti aone zviratidzo zvinosanganisira:

• Kusanzwisisika kupindika kwemuzongoza
• Cloudy cornea
• Moyo kugunun'una
• Hernia mune kugomera
• Yakawedzera chiropa
• Kurasikirwa kwehutano pasi pehuro
• Pfupi chimiro (kunyanya pfupi pfupi trunk)

Weti miedzo inowanzoitwa kutanga. Aya mabvunzo anogona kuratidza akawedzera mucopolysaccharides, asi haakwanise kuona chaiyo fomu yeMPS.

Mimwe bvunzo inogona kusanganisira:

• Tsika yeropa
• Echocardiogram
• Kuongorora genetic
• Kunzwa bvunzo
• Slit-mwenje bvunzo bvunzo
• Ganda fibroblast tsika
• X-ray yemabhonzo marefu, mbabvu, uye musana
• MRI yehenya rezasi uye wepamusoro mutsipa

Zvemhando A, mushonga unonzi elosulfase alfa (Vimizim), unotsiva enzyme isipo, unogona kuyedzwa. Inopihwa kuburikidza netsinga (IV, intravenously). Taura nemupi wako kuti uwane rumwe ruzivo.

Enzyme kutsiva kurapa hakuwanikwi kwerudzi B.

Kune ese ari maviri marudzi, zviratidzo zvinorapwa sezvazvinoitika. Musana wepelinha unogona kudzivirira zvachose musana wesipinha kukuvara mune vanhu vane mutsipa mapfupa asina kusimukira.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve MPS IV:

• National MPS Sosaiti - mpssociety.org
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/morquio-syndrome
• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

Basa rekuziva (kugona kufunga zvakajeka) zvinowanzoitika kune vanhu vane MPS IV.

Matambudziko emapfupa anogona kutungamira kumatambudziko makuru ehutano. Semuenzaniso, mapfupa madiki ari pamusoro pemutsipa anogona kutsvedza nekukuvadza musana, zvichikonzera kuoma mitezo. Kuvhiya kugadzirisa matambudziko akadaro kunofanirwa kuitwa kana zvichikwanisika.

Zvinetso zvemwoyo zvinogona kutungamira kurufu.

Aya matambudziko anogona kuitika:

• Matambudziko ekufema
• Kutadza kwemoyo
• Spinal tambo kukuvara uye zvinogona kuora mitezo
• Matambudziko ekuona
• Matambudziko ekufamba ane chekuita nekukamhina kwemupendero uye mamwe mapfupa matambudziko

Fonera waunopa kana zviratidzo zveMPS IV zvikaitika.

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

MPS IV; Morquio syndrome; Mucopolysaccharidosis mhando IVA; MPS IVA; Galactosamine-6-sulfatase kushomeka; Mucopolysaccharidosis mhando IVB; MPS IVB; Beta galactosidase kushomeka; Lysosomal kuchengetedza chirwere - mucopolysaccharidosis mhando IV

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.