Mucopolysaccharidosis ʻano I

ʻO ka Mucopolysaccharidosis ʻano I (MPS I) kahi maʻi laha ʻole kahi o ke kino e nalowale ana a i ʻole lawa paha ka ʻokena e pono ai e wāwahi i nā kaulahao lōʻihi o nā mole kō. Kāhea ʻia kēia mau kaulahao o nā mole i nā glycosaminoglycans (i kapa ʻia ʻo mucopolysaccharides). ʻO ka hopena, kūkulu nā mole i nā ʻāpana like ʻole o ke kino a hana i nā pilikia olakino like ʻole.

ʻO ke ʻano i kahi hui o nā maʻi i kapa ʻia mucopolysaccharidoses (MPSs). ʻO MPS I ka mea maʻamau.

Aia kekahi mau ʻano MPS ʻē aʻe, e like me:

• MPS II (Hunter syndrome)
• MPS III (Sanfilippo syndrome)
• MPS IV (Morquio maʻi pale)

Ua hoʻoilina ʻia au ʻo MPS, ʻo ia hoʻi he pono i kou mau mākua e hoʻoili i ka maʻi iā ʻoe. Inā lawe nā mākua ʻelua i kahi kope hana ʻole o ka ʻaoʻao e pili ana i kēia kūlana, loaʻa i kēlā me kēia o kā lāua keiki he 25% (1 i ka 4) manawa kūpono e ulu ai ka maʻi.

ʻO ka poʻe me MPS ʻaʻole wau e hana i kahi enzyme i kapa ʻia ʻo lysosomal alpha-L-iduronidase. Kōkua kēia enzyme e wāwahi i nā kaulahao lōʻihi o nā mole kō i kapa ʻia glycosaminoglycans. ʻIke ʻia kēia mau mole i loko o ke kino, pinepine i ka mucus a i nā wai a puni nā hono.

Me ka ʻole o ka enzyme, kūkulu nā glycosaminoglycans a hōʻino i nā mea, me ka puʻuwai. Hiki ke kau ʻia nā ʻōuli mai ke akahai a i ke koʻikoʻi. Kapa ʻia ke ʻano akahai he MPS I attenuated a kapa ʻia ka ʻano koʻikoʻi MPS I koʻikoʻi.

Hōʻike pinepine ʻia nā ʻōuli o MPS ma waena o nā makahiki 3 a hiki i ka 8. ʻO nā keiki me ka MPS koʻikoʻi Hoʻomohala wau i nā ʻōuli ma mua o ka poʻe me ke ʻano liʻiliʻi o ke ʻano.

ʻO kekahi o nā hōʻailona me:

• Nā iwi kūpono ʻole i ka iwi kuamoʻo
• Hiki ʻole ke wehe piha i nā manamana lima (maiuu ka lima)
• ʻEpua kope
• Kuli ke kuli
• Ka ulu ulu ʻana
• Nā pilikia o ka puʻuwai puʻuwai
• ʻO ka maʻi hui pū, ʻo ia hoʻi me ka ʻoʻoleʻa
• ʻO ke kīnā ʻole o ka naʻau ʻoi aku ka maikaʻi o ka manawa ma MPS nui loa I
• ʻO nā hiʻohiʻona helehelena mānoanoa, ʻino hoʻi me ke alahaka ihal haʻahaʻa

I kekahi mau mokuʻāina, ua hoʻāʻo ʻia nā pēpē no MPS I ma ke ʻāpana o nā hōʻike loiloi hānau hānau hou.

Nā hoʻokolohua ʻē aʻe i hana ʻia e pili ana i nā ʻōuli, e hoʻopili pū me:

• ECG
• ʻO ka hoʻāʻo genetic no nā loli i ka ʻāpana alpha-L-iduronidase (IDUA)
• Nā ho'āʻo mimi no nā mucopolysaccharides keu
• X-ray o ka iwi kuamoʻo

Paipai ʻia ka enzyme replacement therapy. Hāʻawi ʻia ka lāʻau, laronidase (Aldurazyme), ma o ke aa (IV, intravenous). Hoʻololi ia i ka enzyme nalo. E kamaʻilio me kāu mea hāʻawi i kāu keiki no ka ʻike hou aku.

Ua hoʻāʻo ʻia ka hoʻoneʻe iwi iwi. Ua loaʻa nā hopena i kā ka lapaʻau ʻana.

Pili nā mālama ʻē aʻe i nā ʻokana i hoʻopili ʻia.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku e pili ana iā MPS I:

• Ka Lehulehu MPS Society - mpssociety.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• NIH Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

ʻAʻole maikaʻi nā keiki me ka MPS koʻikoʻi. Piʻi ko lākou pilikia olakino i ka hala ʻana o ka manawa, a laila make ka makahiki 10.

ʻO nā kamaliʻi me ka MPS liʻiliʻi (milder) Heʻuʻuku koʻu mau pilikia olakino, me ke alakaʻi ʻana i nā ola maʻamau i ka wā makua.

Kāhea i kāu mea hāʻawi inā:

• He moʻolelo ʻohana kāu o MPS I a ke noʻonoʻo nei i ka hānau keiki
• Hoʻomaka kāu keiki e hōʻike i nā ʻōuli o MPS I

Paipai nā loea i ka ʻōlelo aʻoaʻo a me ka hoʻāʻo ʻana no nā kāne me ka moʻolelo ʻohana o MPS I e noʻonoʻo nei i ka hānau keiki. Loaʻa ka hoʻāʻo prenatal.

Ka hemahema ʻo Alpha-L-iduronate; Mucopolysaccharidosis ʻano I; MPS ʻoi loa I; Kukui MPS I; MPS I H; MPS I S; Maʻi maʻi Hurler; Maʻi maʻi Scheie; ʻO Hurler-Scheie maʻi; MPS 1 H / S; Lysosomal maʻi maʻi - mucopolysaccharidosis ʻano I

• Alahaka ihu haʻahaʻa

ʻO Pyeritz RE. Nā maʻi i hoʻoilina ʻia no nā mea pili. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 25th hua. Piladelapia, PA: Elsevier Saunders; 2016: chap 260.

ʻO Spranger JW. ʻO Mucopolysaccharidoses. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 107.

Turnpenny PD, Ellard S. Nā hewa o ka metabolism. I loko o: Turnpenny PD, Ellard S, eds. Nā Emery o nā Genetics Lapaʻau o Emery. 15th hua. Piladelapia, PA: Elsevier; 2017: chap 18.