Mucopolysaccharidosis mtundu IV

Mtundu wa Mucopolysaccharidosis IV (MPS IV) ndi matenda osowa omwe thupi limasowa kapena mulibe ma enzyme ofunikira kuti athyole maunyolo ataliatali a mamolekyulu a shuga. Maunyolo a mamolekyulu amatchedwa glycosaminoglycans (omwe kale amatchedwa mucopolysaccharides). Zotsatira zake, mamolekyulu amakhala m'magulu osiyanasiyana amthupi ndipo amayambitsa mavuto osiyanasiyana azaumoyo.

Vutoli ndi la gulu la matenda otchedwa mucopolysaccharidoses (MPSs). MPS IV imadziwikanso kuti matenda a Morquio.

Pali mitundu ina ya MPS, kuphatikiza:

• MPS I (Matenda a Hurler; Matenda a Hurler-Scheie; Matenda a Scheie)
• MPS II (matenda a Hunter)
• MPS III (matenda a Sanfilippo)

MPS IV ndi matenda obadwa nawo. Izi zikutanthauza kuti imadutsa kudzera m'mabanja. Ngati makolo onse atenga jini yosagwira ntchito yokhudzana ndi vutoli, mwana aliyense ali ndi mwayi wa 25% (1 mwa 4) wokhala ndi matendawa. Izi zimatchedwa chizolowezi chodziyimira payokha.

Pali mitundu iwiri ya MPS IV: mtundu A ndi mtundu B.

• Mtundu A umayamba chifukwa cha vuto la MISONKHANO jini. Anthu omwe ali ndi mtundu A alibe enzyme yotchedwa N-acetylgalactosamine-6-sulfatase.
• Mtundu B umayambitsidwa ndi vuto mu Zamgululi jini. Anthu omwe ali ndi mtundu wa B samapanga enzyme yokwanira yotchedwa beta-galactosidase.

Thupi limafunikira ma enzyme awa kuti athane ndimitunda yayitali ya mamolekyulu a shuga otchedwa keratan sulphate. M'mitundu yonseyi, ma glycosaminoglycans ambiri amakhala mthupi. Izi zitha kuwononga ziwalo.

Zizindikiro nthawi zambiri zimayamba pakati pa zaka 1 ndi 3. Zimaphatikizapo:

• Kukula kwachilendo kwa mafupa, kuphatikiza msana
• Chifuwa chopangidwa ndi belu ndi nthiti chimayang'ana pansi
• Diso lamvula
• Mawonekedwe oyipa a nkhope
• Kukulitsa chiwindi
• Kung'ung'uza mtima
• Hernia mu kubuula
• Mafupa a Hypermobile
• Kugogoda
• Mutu wawukulu
• Kutaya kwaminyewa pansi pakhosi
• Kukula pang'ono ndi thunthu lalifupi kwambiri
• Mano otalikirana kwambiri

Wopereka chithandizo chamankhwala adzawunika mthupi kuti awone ngati pali izi:

• Kupindika kwachilendo kwa msana
• Diso lamvula
• Kung'ung'uza mtima
• Hernia mu kubuula
• Kukulitsa chiwindi
• Kutayika kwa mitsempha pansi pa khosi
• Msinkhu wochepa (makamaka thunthu lalifupi)

Kuyezetsa mkodzo kumachitika koyamba. Mayeserowa atha kuwonetsa zina zambiri za mucopolysaccharides, koma sangathe kudziwa mtundu wa MPS.

Mayesero ena atha kuphatikizira:

• Chikhalidwe chamagazi
• Zojambulajambula
• Kuyesedwa kwachibadwa
• Kuyesedwa kwakumva
• Kuyesa diso la nyali
• Chikhalidwe cha khungu
• X-ray ya mafupa aatali, nthiti, ndi msana
• MRI ya chigaza chakumunsi ndi khosi lakumtunda

Kwa mtundu A, mankhwala otchedwa elosulfase alfa (Vimizim), omwe amalowa m'malo mwa enzyme yomwe ikusowa, atha kuyesedwa. Amaperekedwa kudzera mumtsempha (IV, kudzera m'mitsempha). Lankhulani ndi omwe akukuthandizani kuti mumve zambiri.

Mankhwala obwezeretsa enzyme sakupezeka pamtundu wa B.

Kwa mitundu yonse iwiri, zizindikilo zimathandizidwa momwe zimachitikira. Kuphatikizika kwa msana kumalepheretsa kuvulala kwamtsempha kwam'mbuyo mwa anthu omwe mafupa awo am'miyendo sakutukuka.

Izi zitha kukupatsirani zambiri za MPS IV:

• National MPS Society - mpssociety.org
• National Organisation for Rare Disways - rarediseases.org/rare-diseases/morquio-syndrome
• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

Kuzindikira (kutha kuganiza bwino) nthawi zambiri kumakhala kwa anthu omwe ali ndi MPS IV.

Mavuto a mafupa angayambitse mavuto akulu azaumoyo. Mwachitsanzo, mafupa ang'onoang'ono omwe ali pamwamba pa khosi amatha kuterera ndikuwononga msana, ndikupangitsa ziwalo. Kuchita opaleshoni kuti athetse mavutowa kuyenera kuchitika ngati zingatheke.

Mavuto amtima atha kubweretsa imfa.

Zovuta izi zitha kuchitika:

• Mavuto opumira
• Mtima kulephera
• Kuwonongeka kwa msana komanso ziwalo zotheka
• Mavuto masomphenya
• Mavuto oyenda okhudzana ndi kupindika kwachilendo kwa msana ndi mavuto ena amfupa

Itanani omwe akukuthandizani ngati zizindikiro za MPS IV zikuchitika.

Uphungu wamtunduwu umalimbikitsidwa kwa maanja omwe akufuna kukhala ndi ana komanso omwe ali ndi mbiri yabanja ya MPS IV. Kuyezetsa asanabadwe kulipo.

MPS IV; Matenda a Morquio; Mucopolysaccharidosis mtundu IVA; MPS IVA; Kulephera kwa Galactosamine-6-sulfatase; Mtundu wa Mucopolysaccharidosis IVB; MPS IVB; Beta galactosidase kusowa; Matenda osungira Lysosomal - mtundu wa IV wa mucopolysaccharidosis

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Wolemba JW. Mucopolysaccharidoses. Mu: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: mutu 107.

Turnpenny PD, Ellard S. Zolakwa zakubadwa zama metabolism. Mu: Turnpenny PD, Ellard S, olemba. Zinthu za Emery za Medical Genetics. Wolemba 15. Philadelphia, PA: Elsevier; 2017: mutu 18.