Mucopolysaccharidosis mtundu wachiwiri

Mtundu wa Mucopolysaccharidosis II (MPS II) 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 II imadziwikanso kuti Hunter syndrome.

Pali mitundu ina ya MPS, kuphatikiza:

• MPS I (Matenda a Hurler; Matenda a Hurler-Scheie; Matenda a Scheie)
• MPS III (matenda a Sanfilippo)
• MPS IV (matenda a Morquio)

MPS II ndi matenda obadwa nawo. Izi zikutanthauza kuti imadutsa kudzera m'mabanja. Jini lomwe lakhudzidwa lili pa X chromosome. Nthawi zambiri anyamata amakhudzidwa chifukwa amatenga X chromosome kuchokera kwa amayi awo. Amayi awo alibe zizindikiro za matendawa, koma amakhala ndi mtundu wosagwira wa jini.

MPS II imayamba chifukwa chakusowa kwa enzyme iduronate sulfatase. Popanda enzyme iyi, maunyolo a mamolekyulu a shuga amakhala m'matumba osiyanasiyana, kuwononga.

Matendawa amayamba msanga, atayamba msanga atangokwanitsa zaka 2. Kufulumira, mawonekedwe ofatsa amachititsa kuti zizindikilo zochepa zizionekera pambuyo pake.

Kumayambiriro koyambirira, mawonekedwe owopsa, zizindikilo zake ndi izi:

• Khalidwe lankhanza
• Kutengeka
• Maganizo amakula kwambiri pakapita nthawi
• Kulemala kwakukulu kwamaluso
• Kusuntha kwa thupi kwa Jerky

M'mawonekedwe am'mbuyo (ofatsa), sipangakhale kuchepa kwamaganizidwe.

M'mitundu yonseyi, zizindikiro zimaphatikizapo:

• Matenda a Carpal
• Zoipa za nkhope
• Kugontha (kumawonjezeka pakapita nthawi)
• Kuchuluka kukula kwa tsitsi
• Kuuma pamodzi
• Mutu wawukulu

Kuyezetsa thupi ndi mayeso atha kuwonetsa:

• Diso lachilendo (kumbuyo kwa diso)
• Kuchepetsa mavitamini a iduronate sulfatase m'magazi a seramu kapena m'maselo
• Kung'ung'uza mtima ndi mavavu amtima wotuluka
• Kukulitsa chiwindi
• Kukula kwa nthata
• Hernia mu kubuula
• Mgwirizano wophatikizika (kuchokera kuuma kolumikizana)

Mayeso atha kuphatikiza:

• Phunziro la ma enzyme
• Kuyesa kwa majini kuti asinthe mtundu wa iduronate sulfatase
• Kuyesa kwamkodzo kwa heparan sulphate ndi dermatan sulphate

Mankhwala otchedwa idursulfase (Elaprase), amene amalowa m'malo mwa enzyme iduronate sulfatase angavomerezedwe. Amaperekedwa kudzera mumtsempha (IV, kudzera m'mitsempha). Lankhulani ndi omwe amakuthandizani kuti mumve zambiri.

Kuyika mafupa a mafupa kwayesedwa koyambirira koyambirira, koma zotsatira zake zimatha kusiyanasiyana.

Vuto lililonse laumoyo lomwe limayambitsidwa ndi matendawa liyenera kuthandizidwa mosiyana.

Izi zitha kukupatsirani zambiri za MPS II:

• National MPS Society - mpssociety.org
• National Organisation for Rare Disways - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• NIH Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

Anthu omwe ali ndi mawonekedwe oyambirira (ovuta kwambiri) amakhala zaka 10 mpaka 20. Anthu omwe ali ndi mawonekedwe ofulumira (modekha) amakhala zaka 20 mpaka 60.

Zovuta izi zitha kuchitika:

• Kutsekeka kwa ndege
• Matenda a Carpal
• Kumva kwakumva komwe kumakulirakulira pakapita nthawi
• Kutaya kutha kumaliza ntchito zatsiku ndi tsiku
• Kuuma kophatikizana komwe kumabweretsa mgwirizano
• Ntchito yamaganizidwe yomwe imakulirakulira pakapita nthawi

Itanani omwe akukuthandizani ngati:

• Inu kapena mwana wanu muli ndi izi
• Mukudziwa kuti ndinu amene mumanyamula ndipo mukuganiza zokhala ndi ana

Upangiri wa chibadwa umalimbikitsidwa kwa maanja omwe akufuna kukhala ndi ana komanso omwe ali ndi mbiri yabanja ya MPS II. Kuyezetsa asanabadwe kulipo. Kuyesa kwa omwe amanyamula achibale achimuna a amuna okhudzidwa kumapezekanso.

MPS II; Matenda a Hunter; Lysosomal yosungirako matenda - mucopolysaccharidosis mtundu wachiwiri; Kuperewera kwa 2-sulfatase; Kuperewera kwa I2S

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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.