Mucopolysaccharidosis ʻano III

ʻO ka Mucopolysaccharidosis ʻano III (MPS III) kahi maʻi laha ʻole kahi e nalowale nei ke kino a i ʻole lawa ʻole kekahi mau 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 Sanfilippo Syndrome.

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

• MPS I (Hurler Syndrome; Hurler-Scheie maʻi pale; Scheie maʻi pale)
• MPS II (Hunter syndrome)
• MPS IV (Morquio maʻi pale)

He maʻi hoʻoilina ka MPS III. ʻO kēia ke kumu i hoʻoili ʻia i waena o nā ʻohana. Inā lawe nā mākua ʻelua i kahi kope nonworking o kahi 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. Kapa ʻia kēia he ʻano resesive autosomal.

Hana ʻia ʻo MPS III ke nalowale a hemahema paha nā enzyme e pono ai e wāwahi i ka kaula kō heparan sulfate kō.

ʻEhā ʻano nui o MPS III. ʻO ke ʻano o ke kanaka e pili ana i ka hopena e hoʻopili ʻia.

• Hoʻokomo ʻia kahi ʻano A e kahi kīnā ma ka SGSH ʻāpana a ʻo ia ke ʻano ʻoi loa. ʻAʻohe o nā kānaka me kēia ʻano i kahi ʻano maʻamau o ka enzyme i kapa ʻia heparan N-sulfatase.
• Hoʻokumu ʻia ka ʻano B e kahi kīnā ma ka NAGLU ʻāpana ʻO ka poʻe me kēia ʻano e nalo nei a hana ʻole paha i ka alpha-N-acetylglucosaminidase.
• Hoʻokumu ʻia ka ʻano C e kahi kīnā ma ka HGSNAT ʻāpana ʻO ka poʻe me kēia ʻano e nalo nei a hana ʻole paha i ka acetyl-CoA lawa: alpha-glucosaminide N-acetyltransferase.
• Hoʻokumu ʻia ka ʻano D e kahi kīnā o ka ʻO GNS ʻāpana ʻO ka poʻe me kēia ʻano e nalo nei a hana ʻole paha i lawa N-acetylglucosamine 6-sulfatase.

Hōʻike pinepine ʻia nā ʻōuli ma hope o ka makahiki mua o ke ola. Kū ka hāʻule o ka hiki ke aʻo ma waena o nā makahiki 2 a 6. Hiki i ke keiki ke ulu maʻamau i loko o nā makahiki mua, akā ʻo ke kiʻekiʻe hope ma lalo o ka awelika. Hoʻopili ʻia ka lohi lohi e ke kūlana noʻonoʻo ʻino.

Hiki i nā ʻōuli ʻē aʻe ke:

• Nā pilikia pili i ka lawena, me hyperactivity
• ʻO nā hiʻohiʻona helehelena maka me nā kuʻemaka kaumaha e kū i ka waena o ka maka ma luna o ka ihu
• Pohā ʻōpū
• Hoʻonui i ke ake a me nā ʻāpala
• Pilikia moe
• Pākuʻi ʻoʻoleʻa e kī ʻole paha e hoʻolōʻihi
• Nā pilikia o ka hihiʻo a me ka nalo ʻana o ka lohe
• Nā pilikia hele wāwae

E hana ka mea mālama ola i kahi hoʻokolohua kino.

E hana ʻia nā hōʻike mimi. ʻO ka poʻe me MPS III he nui ka nui o kahi mucopolysaccharide i kapa ʻia heparan sulfate i ka mimi.

Hiki i nā hoʻokolohua ʻē aʻe ke:

• Moʻomeheu Koko
• ʻEchocardiogram
• Ke hoʻāʻo genetic
• ʻImi maka maka kukui
• ʻO ka moʻomeheu fibroblast ʻili
• X-kukuna o nā iwi

Mālama ʻia ka mālama ʻana o MPS III i ka mālama ʻana i nā ʻōuli. ʻAʻohe mālama kūikawā no kēia maʻi.

No ka ʻike hou aku a me ke kākoʻo, hoʻokaʻaʻike i kekahi o nā hui aʻe:

• National Organization for Rare Disorder --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• NIH Genetics Home Reference - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Pūʻulu ʻo Sanfilippo Foundation - teamsanfilippo.org

Hoʻokumu ʻo MPS III i nā ʻōuli ʻōnaehana koʻikoʻi, e like me ke kīnā ʻole o ka ʻike koʻikoʻi. Noho ka hapa nui o nā poʻe me MPS III i ko lākou mau makahiki ʻōpio. Noho lōʻihi kekahi, ʻoiai make kekahi i nā ʻano koʻikoʻi i ka wā mua. ʻOi aku ke koʻikoʻi nā ʻōuli i ka poʻe me ka ʻano A.

Hiki ke hana i kēia mau pilikia:

• Makapō
• ʻAʻole hiki ke mālama iā ʻoe iho
• Kīnā ʻole o ka noʻonoʻo
• ʻO nā hōʻino nerve e lohi a hele a koi i ka noho huila
• Ka hopu ʻana i nā maʻi

Kāhea i ka hāʻawi o kāu keiki inā ʻaʻole e ulu a ulu ana paha kāu keiki maʻamau.

E ʻike i kāu mea hāʻawi inā ʻoe e hoʻolālā i kāu keiki a he moʻolelo ʻohana kāu no MPS III.

Paipai ʻia ka ʻōlelo aʻo genetic no nā kāne e makemake ana e hānau keiki a he moʻolelo ʻohana ko MPS III. Loaʻa ka hoʻāʻo prenatal.

MPS III; Sanfilippo maʻi maʻi; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal maʻi maʻi - mucopolysaccharidosis ʻano III

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.