Mucopolysaccharidosis mhando II

Mucopolysaccharidosis mhando II (MPS II) hosha isingawanzo iyo 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 II inozivikanwa zvakare seHunter syndrome.

Kune mamwe marudzi akati wandei emaMPS, anosanganisira:

• MPS I (Hurler chirwere; Hurler-Scheie syndrome; Scheie syndrome)
• MPS III (Sanfilippo chirwere)
• MPS IV (Morquio syndrome)

MPS II chirwere chinogarwa nhaka. Izvi zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Iyo yakakanganisika geni iri pane X chromosome. Vakomana vanowanzo kanganiswa nekuti vanogara nhaka yeX chromosome kubva kuna amai vavo. Vanamai vavo havana zviratidzo zvechirwere, asi vanotakura kopi isingashande yegene.

MPS II inokonzerwa nekushaikwa kweiyo enzyme iduronate sulfatase. Pasina iyi enzyme, ngetani dzemamorekuru eshuga dzinovaka mumatunhu akasiyana siyana, zvichikonzera kukuvara.

Kutanga-kutanga, kwakakomba chimiro chechirwere kunotanga nguva pfupi yapfuura zera 2. Kunonoka-kutanga, fomu nyoro inokonzeresa zvishoma zviratidzo zvakanyanya kuti zvioneke gare gare muhupenyu.

Mukutanga-kutanga, fomu yakaoma, zviratidzo zvinosanganisira:

• Hasha hunhu
• Kusanyanyisa
• Basa repfungwa rinowedzera kuwedzera nekufamba kwenguva
• Kuremara kwakakomba kwepfungwa
• Kufamba kwemuviri weJerky

Mune iyo yekupedzisira (nyoro) fomu, panogona kuve neunyoro kune kusashomeka kwepfungwa.

Mune ese mafomu, zviratidzo zvinosanganisira:

• Carpal tunnel chirwere
• Zvinotyisa zvechiso
• Matsi (inowedzera kuwedzera nekufamba kwenguva)
• Kuwedzera kwebvudzi kukura
• Kuomarara kwakabatana
• Musoro muhombe

Kuongorora kwepanyama uye bvunzo dzinogona kuratidza:

• Isina kujairika retina (kumashure kweziso)
• Yakadzikira iduronate sulfatase enzyme muropa serum kana masero
• Kugunun'una kwemoyo uye zvinoyerera moyo mavharuvhu
• Yakawedzera chiropa
• Yakawedzera spleen
• Hernia mune kugomera
• Joint contractures (kubva kuomarara kwekubatana)

Miedzo inogona kusanganisira:

• Enzyme kudzidza
• Genetic kuyedza shanduko muiyo iduronate sulfatase gene
• Weti bvunzo yehepari sulphate uye dermatan sulfate

Mushonga unonzi idursulfase (Elaprase), unotsiva enzyme iduronate sulfatase inogona kukurudzirwa. Inopihwa kuburikidza netsinga (IV, intravenously). Taura nemupi wako wezvehutano kuti uwane rumwe ruzivo.

Bone marrow kuisazve kwayedzwa kune yekutanga-kutanga fomu, asi mhedzisiro inogona kusiyana.

Dambudziko rega rega rehutano rinokonzerwa nechirwere ichi rinofanirwa kurapwa zvakasiyana.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve MPS II:

• National MPS Sosaiti - mpssociety.org
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• NIH Genetic uye Rare Diseases Ruzivo Center - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

Vanhu vane yekutanga-kutanga (yakaoma) fomu vanowanzo rarama kwemakore gumi kusvika makumi maviri. Vanhu vane yekunonoka-kutanga (zvinyoro) fomu vanowanzo rarama makore makumi maviri kusvika makumi matanhatu.

Aya matambudziko anogona kuitika:

• Kuvharika kwemumhepo
• Carpal tunnel chirwere
• Kunzwa kurasikirwa kunowedzera kuwedzera nekufamba kwenguva
• Kurasikirwa kwekugona kupedzisa zviitiko zveupenyu hwezuva nezuva
• Kuomarara kwakabatana kunotungamira kuzvibvumirano
• Basa repfungwa rinowedzera zvakanyanya nekufamba kwenguva

Fonera mupiki wako kana:

• Iwe kana mwana wako mune boka rezviratidzo izvi
• Iwe unoziva iwe uri chibereko chinotakura uye urikufunga kuve nevana

Genetic counselling inokurudzirwa kune vakaroorana vanoda kuve nevana uye vane nhoroondo yemhuri yeMPS II. Kuongororwa kwepamuviri kunowanikwa. Mutakuri kuyedza kwehukama hwehukama hwevanhurume vane hutachiona kunowanikwa zvakare.

MPS II; Hunter chirwere; Lysosomal kuchengetedza chirwere - mucopolysaccharidosis mhando II; Iduronate 2-sulfatase kushomeka; Kushayikwa kweI2S

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.