Mucopolysaccharidosis ʻano IV

ʻO ka Mucopolysaccharidosis ʻano IV (MPS IV) 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 IV ʻike ʻia ʻo Morquio 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 III (Sanfilippo syndrome)

He maʻi hoʻoilina ka MPS IV. 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.

ʻElua ʻano o MPS IV: ʻano A a me ʻano B.

• Hoʻokomo ʻia kahi ʻano A e kahi kīnā ma ka GALNS ʻāpana ʻAʻohe o ka poʻe i loaʻa ka ʻano A i kahi ʻākena i kapa ʻia N-acetylgalactosamine-6-sulfatase.
• Hoʻokumu ʻia ka ʻano B e kahi kīnā ma ka GLB1 ʻāpana ʻO nā kānaka me ka ʻano B ʻaʻole hana lawa i kahi ʻenemme i kapa ʻia beta-galactosidase.

Pono ke kino i kēia mau enzymes e wāwahi i nā kaula lōʻihi o nā mole kō i kapa ʻia ʻo keratan sulfate. I nā ʻano ʻelua, kūkulu nui ʻia nā glycosaminoglycans nui ʻole i loko o ke kino. Hiki i kēia ke hōʻino i nā meaola.

Hoʻomaka ka hoʻomaka ʻana o nā ʻōuli ma waena o nā makahiki 1 a me 3. Pākuʻi ʻia lākou:

• Hoʻomohala maʻamau o nā iwi, me ke kuamoʻo
• Pā ka umauma me he iwi ʻaoʻao i lalo i lalo
• Kukā opua
• Nā hiʻohiʻona helehelena
• Ake akea
• Ohumu puuwai
• ʻO Hernia i ke aʻa
• Nā hono Hypermobile
• Kuli kūlou
• Poʻo nui
• Loaʻa ka hana nerve ma lalo o ka ʻāʻī
• ʻO ke kino pōkole me kahi kumu pōkole kikoʻī
• Nā niho ākea

E hana ka mea mālama ola i kahi hoʻokolokolo kino e nānā ai i nā ʻōuli e pili pū me:

• ʻO ke kaʻe maʻamau o ka iwi kuamoʻo
• Kukā opua
• Ohumu puuwai
• ʻO Hernia i ke aʻa
• Ake akea
• Loaʻa ka hana nerve ma lalo o ka ʻāʻī
• ʻO ke kino pōkole (ʻo ke kumu pōkole hoʻi)

Hana pinepine ʻia nā hōʻike mimi. Hōʻike paha kēia mau ho'āʻo i nā mucopolysaccharides keu, akā ʻaʻole hiki iā lākou ke hoʻoholo i ke ʻano kikoʻī o MPS.

Hiki i nā hoʻokolohua ʻē aʻe ke:

• Moʻomeheu Koko
• ʻEchocardiogram
• Ke hoʻāʻo genetic
• Hōʻike hoʻolohe
• Hōʻike maka kukui kukui
• ʻO ka moʻomeheu fibroblast ʻili
• ʻO nā kukuna X o nā iwi lōʻihi, nā iwi ʻaoʻao, a me ka iwi kuamoʻo
• MRI o ka iwi poʻo lalo a me ka ʻāʻī o luna

No ke ʻano A, hiki ke hoʻāʻo ʻia ka lāʻau i kapa ʻia ʻo elosulfase alfa (Vimizim). Hāʻawi ʻia ia ma o ke aa (IV, intravenously). E kamaʻilio i kāu mea hoʻolako no ka ʻike hou aku.

ʻAʻole loaʻa ka enzyme replacement therapy no ka type B.

No nā ʻano ʻelua, mālama ʻia nā ʻōuli ke kū lākou. Hiki i kahi fusion spinal ke pale i ka ʻeha o ke kuamoʻo mau i ka poʻe nona ka iwi ʻāʻī i hoʻomohala ʻole ʻia.

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

• Ka Lehulehu MPS Society - mpssociety.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/morquio-syndrome
• NIH Genetics Home Reference - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

ʻO ka hana ʻike (hiki ke noʻonoʻo akāka) maʻamau i nā poʻe me MPS IV.

Hiki i nā pilikia iwi ke alakaʻi i nā pilikia olakino nui. ʻO kahi laʻana, e heʻe paha nā iwi liʻiliʻi ma ka piko o ka ʻāʻī a hōʻino hoʻi i ka iwi kuamoʻo, e maʻi ai ka maʻi. Pono e hana i ka ʻoki kino e hoʻoponopono i ia mau pilikia inā hiki.

Hiki i nā pilikia puʻuwai ke alakaʻi i ka make.

Hiki ke hana i kēia mau pilikia:

• Nā pilikia hanu
• Hewa puʻuwai
• Poino nā iwi kuamoʻo a me ka lōlō hiki
• Nā pilikia ʻike
• Nā pilikia e hele nei e pili ana i ka curvature abnormal o ka iwi kuamoʻo a me nā pilikia iwi ʻē aʻe

Kāhea i kāu mea hāʻawi inā loaʻa nā ʻōuli o MPS IV.

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

MPS IV; Maʻi Morquio; Mucopolysaccharidosis ʻano IVA; MPS IVA; Ka nele o Galactosamine-6-sulfatase; Mucopolysaccharidosis ʻano IVB; MPS IVB; Ka nele o ka beta galactosidase; Lysosomal maʻi maʻi - mucopolysaccharidosis ʻano IV

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.