ʻO Maroteaux-Lamy Syndrome

ʻO Maroteaux-Lamy Syndrome a i ʻole Mucopolysaccharidosis VI kahi maʻi hoʻoilina maʻamau, kahi e loaʻa ai i nā mea maʻi nā ʻano aʻe:

• Pōkole,
• deformations o ka helehelena,
• ʻāʻī pōkole,
• otitis hou,
• nā maʻi maʻi hanu,
• malformations iwi a
• ʻoʻoleʻa o ka mākala.

Hoʻokumu ʻia ka maʻi e nā loli o ka enzyme Arylsulfatase B, ka mea e ālai iā ia mai ka hoʻokō ʻana i kāna hana, ka mea e hoʻohaʻahaʻa i nā polysaccharides, a laila hōʻiliʻili ʻia i loko o nā hunaola, e hoʻomohala nei i nā hōʻailona ʻano o ka maʻi.

He ʻike maʻamau ka poʻe me ka maʻi ʻōpala, no laila ʻaʻole pono nā keiki i kahi kula kūikawā, ua hoʻopili wale ʻia nā mea e kōkua ai i ka launa pū ʻana me nā kumu a me nā hoa papa.

Hana ʻia ke kuhi e kahi genistist e pili ana i ka loiloi loiloi a me nā anamanaʻo biochemical keʻena hoʻokolohua. ʻO ka hōʻailona i nā makahiki mua o ke ola he mea nui ia no ka elaboration o kahi hoʻolālā intervensi mua, kahi e kōkua ai i ka ulu ʻana o ke keiki a me ka hāʻawi ʻana o nā mākua i nā ʻōlelo aʻo kūpuna, no ka mea aia lākou i ka makaʻu i ka hāʻawi ʻana i ka maʻi i kā lāua mau keiki ma hope.

ʻAʻohe lāʻau lapaʻau no Maroteaux-Lamy Syndrome, akā ʻo kekahi mau lapaʻau ʻana e like me ka hoʻoneʻe ʻana o ka iwi iwi a me ka hoʻomaʻemaʻe ʻana i ka enzyme i mea e hōʻemi ai i nā ʻōuli. Hoʻohana ʻia ʻo Physiotherapy e hoʻoliʻiliʻi i ka ʻoʻoleʻa o ka mākala a hoʻonui i ka neʻe ʻana o ke kino o kēlā me kēia. ʻAʻole loaʻa i nā mea lawe a pau nā ʻōuli o ka maʻi, ʻokoʻa ka paʻakikī mai kēlā me kēia kanaka, hiki i kekahi ke ola i kahi ola maʻamau.