Mucopolysaccharidosis mtundu wachitatu

Mtundu wa Mucopolysaccharidosis III (MPS III) ndi matenda osowa omwe thupi limasowa kapena mulibe ma enzyme ena 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 II imadziwikanso kuti Sanfilippo syndrome.

Pali mitundu ina ya MPS, kuphatikiza:

• MPS I (Matenda a Hurler; Matenda a Hurler-Scheie; Matenda a Scheie)
• MPS II (matenda a Hunter)
• MPS IV (matenda a Morquio)

MPS III 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.

MPS III imachitika pomwe ma enzyme omwe amafunikira kuti athane ndi heparan sulphate sugar chain akusowa kapena opunduka.

Pali mitundu inayi yayikulu ya MPS III. Mtundu womwe munthu ali nawo umadalira mtundu wa enzyme womwe umakhudzidwa.

• Mtundu A umayamba chifukwa cha vuto la SGSH jini ndipo ndiye mawonekedwe ovuta kwambiri. Anthu omwe ali ndi mtunduwu alibe mtundu wa enzyme wotchedwa heparan N-sulfatase.
• Mtundu B umayambitsidwa ndi vuto mu NAGLU jini. Anthu omwe ali ndi mtunduwu akusowa kapena samapanga alpha- yokwaniraN-acetylglucosaminidase.
• Mtundu C umayambitsidwa ndi vuto la HGSNAT jini. Anthu omwe ali ndi mtunduwu akusowa kapena samapanga acetyl-CoA yokwanira: alpha-glucosaminide N-acetyltransferase.
• Mtundu D umayambitsidwa ndi vuto mu GNS jini. Anthu omwe ali ndi mtundu uwu akusowa kapena samabala zokwanira N-acetylglucosamine 6-sulfatase.

Zizindikiro nthawi zambiri zimawoneka pambuyo pa chaka choyamba cha moyo. Kuchepa kwa kuphunzira kumachitika pakati pa zaka 2 ndi 6. Mwanayo amatha kukula bwino mzaka zoyambirira, koma kutalika komaliza kumakhala kotsika. Kukula kochedwa kumatsatiridwa ndikukula kwamalingaliro.

Zizindikiro zina zitha kuphatikiza:

• Mavuto amakhalidwe, kuphatikizapo kusakhazikika
• Maonekedwe akhungu ndi nsidze zolemera zomwe zimakumana pakati pa nkhope pamwamba pamphuno
• Kutsekula m'mimba
• Kukulitsa chiwindi ndi ndulu
• Zovuta za kugona
• Malumikizidwe olimba omwe sangakulire kwathunthu
• Mavuto amawonedwe ndi kutayika kwakumva
• Mavuto oyenda

Wothandizira zaumoyo adzayesa.

Kuyezetsa mkodzo kudzachitika. Anthu omwe ali ndi MPS III ali ndi mucopolysaccharide wambiri wotchedwa heparan sulphate mumkodzo.

Mayesero ena atha kuphatikizira:

• Chikhalidwe chamagazi
• Zojambulajambula
• Kuyesedwa kwachibadwa
• Dulani mayeso a nyali
• Chikhalidwe cha khungu
• X-ray ya mafupa

Chithandizo cha MPS III ndicholinga chothana ndi zizindikirazo. Palibe mankhwala enieni a matendawa.

Kuti mumve zambiri komanso kuthandizidwa, lemberani mabungwe awa:

• National Organisation for Rare Disways --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Gulu Sanfilippo Foundation - teamanfilippo.org

MPS III imayambitsa zizindikilo zazikulu zamanjenje, kuphatikiza kulephera kwakaluntha. Anthu ambiri omwe ali ndi MPS III amakhala azaka zaunyamata. Ena amakhala ndi moyo wautali, pomwe ena omwe ali ndi mawonekedwe owopsa amafa ali aang'ono. Zizindikiro zimakhala zovuta kwambiri kwa anthu omwe ali ndi mtundu A.

Zovuta izi zitha kuchitika:

• Khungu
• Kulephera kudzisamalira
• Kulemala kwamaluso
• Kuwonongeka kwa mitsempha komwe kumawonjezeka pang'onopang'ono ndipo pamapeto pake kumafuna kugwiritsa ntchito olumala
• Kugwidwa

Itanani yemwe amakupatsani mwana wanu ngati mwana wanu sakuwoneka kuti akukula bwino.

Onani omwe akukuthandizani ngati mukufuna kukhala ndi ana ndipo muli ndi mbiri yabanja ya MPS III.

Upangiri wa chibadwa umalimbikitsidwa kwa maanja omwe akufuna kukhala ndi ana komanso omwe ali ndi mbiri yabanja ya MPS III. Kuyezetsa asanabadwe kulipo.

MPS III; Matenda a Sanfilippo; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Matenda osungira a Lysosomal - mucopolysaccharidosis mtundu wachitatu

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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.