Mucopolysaccharidosis ʻano II

ʻO ka Mucopolysaccharidosis ʻano II (MPS II) kahi maʻi laha ʻole kahi o ke kino e nalowale ana a i ʻole lawa ʻole kahi enzyme 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 II ʻike ʻia ʻo Hunter syndrome.

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

• MPS I (Hurler Syndrome; Hurler-Scheie maʻi pale; Scheie maʻi pale)
• MPS III (Sanfilippo syndrome)
• MPS IV (Morquio maʻi pale)

ʻO MPS II kahi maʻi hoʻoilina. ʻO kēia ke kumu i hoʻoili ʻia i waena o nā ʻohana. ʻO ka gen i hoʻopili ʻia aia ma ka X chromosome. Hoʻopili pinepine ʻia nā keikikāne no ka mea hoʻoilina lākou i ka X chromosome mai ko lākou mau makuahine. ʻAʻohe o ko lākou mau makuahine i mau hōʻailona o ka maʻi, akā hāpai lākou i kahi kope hana ʻole o ka ʻāpana.

Hoʻokumu ʻia ʻo MPS II e ka nele o ka enzyme iduronate sulfatase. Me ka ʻole o kēia enzyme, kūkulu nā kaulahao o nā mole kō i nā kino o ke kino, e hōʻino ana.

Hoʻomaka ka hoʻomaka mua, ke ʻano koʻikoʻi o ka maʻi ma hope koke o ka makahiki 2. ʻO kahi hoʻomaka hope loa, kahi ʻano akahai e hōʻemi i nā ʻōuli ʻino loa e hōʻike ma hope o ke ola.

I ka hoʻomaka mua, ʻano koʻikoʻi, nā ʻōuli e pili pū me:

• ʻAoʻao aggressive
• Hyperactivity
• ʻOi aku ka maikaʻi o ka hana noʻonoʻo i ka manawa
• Kīnā koʻikoʻi koʻikoʻi
• ʻO ka neʻe ʻana o ke kino Jerky

I ke ʻano hope (akahai), hiki ke akahai i kahi hemahema noʻonoʻo ʻole.

I nā ʻano ʻelua, nā ʻōuli nā:

• Carpal tunnel maʻi maʻi
• Nā hiʻohiʻona ʻaʻano o ka helehelena
• Kuli (hele a hewa i ka manawa)
• Hoʻonui i ka ulu o ka lauoho
• ʻOʻoleʻa hui
• Poʻo nui

E hōʻike paha kahi hōʻike kino a me nā hoʻāʻo.

• Retina kūpono (kua o ka maka)
• Hoemi i ka iduronate sulfatase enzyme i ke koko serum a i ʻole nā ​​hunaola
• ʻŌhumu o ka puʻuwai a me nā kiʻo puʻuwai leaky
• Ake akea
• ʻLepala hoʻonui
• ʻO Hernia i ke aʻa
• Hoʻohui ʻelike (mai paʻa paʻa)

E komo pū paha nā hoʻāʻo:

• ʻImi Enzyme
• ʻO ka hoʻāʻo genetic no kahi loli i ka gen iduronate sulfatase
• Hōʻike mimi no ka heparan sulfate a me ka dermatan sulfate

ʻO ka lāʻau i kapa ʻia idursulfase (Elaprase), kahi e pani ai i ka enzyme iduronate sulfatase e paipai ʻia. Hāʻawi ʻia ia ma o ke aa (IV, intravenously). E kamaʻilio me kāu mea mālama ola no ka ʻike hou aku.

Ua hoʻāʻo ʻia ka hoʻoneʻe iwi ʻana no ka palapala hoʻomaka mua, akā hiki ke hoʻololi i nā hopena.

Pono e mālama ʻokoʻa ʻia kēlā me kēia pilikia olakino e kēia maʻi.

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

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

ʻO ka poʻe me ke ʻano hoʻomaka mua (ʻino) e noho maʻamau no 10 a 20 mau makahiki. ʻO ka poʻe me ke ʻano hoʻomaka hope (ʻoluʻolu) noho maʻamau 20 a 60 mau makahiki.

Hiki ke hana i kēia mau pilikia:

• Pāpale alanui
• Carpal tunnel maʻi maʻi
• Lohe i ka nalo e ʻoi aku ana i ka hala
• Ka nele o ka hiki ke hoʻopau i nā hana ola o kēlā me kēia lā
• ʻOʻoleʻa hui e alakaʻi i nā ʻaelike
• ʻOi aku ka hana noʻonoʻo i ka manawa

Kāhea i kāu mea hāʻawi inā:

• Loaʻa iā ʻoe a ʻo kāu keiki kahi hui o kēia mau ʻōuli
• ʻIke ʻoe he lawe i ka moʻokūʻikena a ke noʻonoʻo nei i ka hānau keiki

Paipai ʻia ka ʻōlelo aʻo genetic no nā kāne e makemake ana e hānau keiki a he moʻolelo ʻohana ko MPS II. Loaʻa ka hoʻāʻo prenatal. ʻO ka hoʻāʻo lawe ʻana no nā ʻohana wahine o nā kāne i hoʻopilikia ʻia.

MPS II; Hunter syndrome; Lysosomal maʻi maʻi - mucopolysaccharidosis ʻano II; Ka hemahema Iduronate 2-sulfatase; I2S hemahema

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.