Mucopolysaccharidosis mhando I

Mucopolysaccharidosis mhando I (MPS I) chirwere chisingawanzoitika umo muviri unoshaikwa kana kushaya enzyme inodiwa kupaza 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 ini ndinonyanya kuzivikanwa.

Kune mamwe marudzi akati wandei emaMPS, anosanganisira:

• MPS II (Hunter chirwere)
• MPS III (Sanfilippo chirwere)
• MPS IV (Morquio syndrome)

MPS ini ndakagara nhaka, zvinoreva kuti vabereki vako vanofanira kupfuudza chirwere ichi kwauri. Kana ivo vaviri vabereki vakatakura kopi isingashande yegene inoenderana nemamiriro aya, mumwe nemumwe wevana vavo ane 25% (1 mu4) mukana wekuvandudza chirwere.

Vanhu vane MPS ini handigadzire enzyme inonzi lysosomal alpha-L-iduronidase. Iyi enzyme inobatsira kubvarura maketani marefu emashuga mamorekuru anonzi glycosaminoglycans. Aya mamorekuru anowanikwa mukati memuviri wese, kazhinji mumusuru uye mune fluid yakatenderedza majoini.

Pasina iyo enzyme, glycosaminoglycans inovaka nekukuvadza nhengo, kusanganisira moyo. Zviratidzo zvinogona kubva pane zvinyoro kusvika kune zvakanyanya. Iyo fomu nyoro inonzi yakadzikiswa MPS ini uye fomu yakaoma inonzi yakasimba MPS I.

Zviratidzo zveMPS ini ndinowanzoonekwa pakati pemazera matatu kusvika 8. Vana vane MPS dzakakomba ndinogadzira zviratidzo pamberi pevaya vane fomu isina kusimba.

Zvimwe zvezviratidzo zvinosanganisira:

• Mapfupa asina kujairika musana
• Kusakwanisa kuvhura zvizere minwe (claw ruoko)
• Makore ane makore
• Matsi
• Kukamisa kukura
• Matambudziko emagetsi emoyo
• Joint chirwere, kusanganisira kuomarara
• Kuremara kwehungwaru kunowedzera zvakanyanya nekufamba kwenguva mune yakaoma MPS I
• Yakakora, yakakora kumeso maficha ane yakaderera mhuno bhiriji

Mune mamwe matunhu, vacheche vanoyerwa MPS ini sechikamu chevacheche kuongorora bvunzo.

Mimwe bvunzo inogona kuitwa zvichienderana nezviratidzo, inosanganisira:

• ECG
• Genetic kuyedza shanduko kune iyo alpha-L-iduronidase (IDUA) geni
• Weti miedzo yekuwedzera mucopolysaccharides
• X-ray yemuzongoza

Enzyme kutsiva kurapa kunogona kukurudzirwa. Mushonga, unonzi laronidase (Aldurazyme), unopihwa kuburikidza netsinga (IV, intravenously). Inotsiva enzyme isipo. Taura nemupi wemwana wako kuti uwane rumwe ruzivo.

Bone marrow kuisazve kwakaedzwa. Kurapa kwakave nemhedzisiro yakavhenganiswa.

Kumwe kurapwa kunoenderana nenhengo dzinokanganiswa.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve MPS I:

• National MPS Sosaiti - mpssociety.org
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• NIH Genetic uye Rare Diseases Ruzivo Center - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

Vana vane MPS dzakakomba ini handiwanzoita zvakanaka. Matambudziko avo ehutano anowedzera kuwedzera nekufamba kwenguva, zvichikonzera kufa nezera gumi.

Vana vane MP (yakadzikama) MPS ndine mashoma matambudziko ehutano, neakawanda anotungamira hupenyu hwakajairika kuva munhu mukuru.

Fonera mupiki wako kana:

• Une nhoroondo yemhuri ye MPS I uye urikufunga kuve nevana
• Mwana wako anotanga kuratidza zviratidzo zveMPS I

Nyanzvi dzinokurudzira kuraira kwemajini uye kuyedza kwevakaroora vane nhoroondo yemhuri yeMAPS I avo vari kufunga kuve nevana. Kuongororwa kwepamuviri kunowanikwa.

Alpha-L-iduronate kushomeka; Mucopolysaccharidosis mhando I; Makurukota eParamende ini; Yakagadziriswa MPS ini; MPS I H; MPS I S; Hurler chirwere; Scheie chirwere; Hurler-Scheie chirwere; MPS 1 H / S; Lysosomal kuchengetedza chirwere - mucopolysaccharidosis mhando I

• Yakadzika mhino bhiriji

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.