ʻO Rubinstein-Taybi maʻi

ʻO Rubinstein-Taybi syndrome (RTS) kahi maʻi maʻi. Pili ia i nā manamana nui a me nā manamana wāwae, ke kino pōkole, nā hiʻohiʻona hiʻohiʻona ʻokoʻa, a me nā ʻano ʻokoʻa o ke kīnā ʻole o ka ʻike.

He kūlana laha ʻole ʻo RTS. Nā ʻano i nā gen CREBBP a EP300 ʻike ʻia i kekahi poʻe me kēia ʻano.

Ua nalowale loa kekahi poʻe. ʻOi aku kēia maʻamau i nā poʻe me nā pilikia ʻoi loa.

ʻO ka hapa nui o nā hihia he sporadic (ʻaʻole i hoʻoili ʻia i waena o nā ʻohana). Pili paha lākou i kahi kīnā kīnā hou i kū i ka sperm a i ʻole nā ​​huna manu, a i ka manawa o ka hāpai ʻana.

ʻO nā hōʻailona me:

• Ke hoʻonui nei i nā manamana nui a me nā manamana nui
• Konipōpō
• ʻO ka lauoho nui i ke kino (hirsutism)
• Nā kīnā o ka puʻuwai, pono paha i ke ʻoki ʻana
• Kīnā ʻole o ka noʻonoʻo
• Ka hopu ʻana i nā maʻi
• ʻO ke kino pōkole e ʻike ʻia ma hope o ka hānau ʻana
• Hoʻolālā lohi o ka ʻike ʻike
• Hoʻonui lohi i ka mākau kaʻa me ka leo haʻahaʻa haʻahaʻa

Hiki i nā hōʻailona ʻē aʻe a me nā ʻōuli ke komo pū:

• Loaʻa ʻole a i ʻole ke kīkākī keu, a me nā pilikia ʻē aʻe me ka puʻupaʻa a me ka hāpala
• ʻO kahi iwi i hoʻomohala ʻole ʻia ma ka midface
• Hele wāwae paʻa ʻole a paʻakikī hoʻi
• Nā maka maka i lalo
• Nā pepeiao hoʻohaʻahaʻa haʻahaʻa a malino paha
• Hoʻopili maka maka (ptosis)
• Kālepaʻa
• Coloboma (kahi kīnā i ka iris o ka maka)
• Microcephaly (poʻo liʻiliʻi liʻiliʻi)
• ʻ Nmiʻi, liʻiliʻi, a i ʻole okioki ka waha me nā niho lehulehu
• Kaha ihu a i ʻole "nuku" paha
• ʻO nā kuʻemaka mānoanoa a paʻa me nā huluhulu lōʻihi
• Kaha hōʻike hewa ʻole (cryptorchidism), a i ʻole nā ​​pilikia testicular ʻē aʻe

E hana ka mea mālama ola i kahi hoʻokolohua kino. E hana pū ʻia nā hoʻāʻo koko a me nā kukuna x.

Hiki ke hana i nā hoʻokolohua genetic e hoʻoholo inā nalowale a loli paha nā genes i pili i kēia maʻi.

ʻAʻohe mālama kūikawā no RTS. Eia nō naʻe, hiki ke hoʻohana ʻia nā ʻano mālama aʻe e mālama i nā pilikia e pili pinepine ʻia me kēia ʻano.

• ʻO ke kaha ʻana e hoʻoponopono i nā iwi i nā manamana nui a i ʻole nā ​​manamana wāwae i kekahi manawa hiki ke hoʻomaikaʻi i ka hopu ʻana a i ʻole ka hōʻoluʻolu.
• ʻO nā papahana hoʻopili mua a me ka ʻike kūikawā e hoʻoponopono i nā pilikia kīnā.
• ʻIke i nā loea loea a me nā hui kākoʻo no nā lālā o ka ʻohana.
• ʻO ka lāʻau lapaʻau no nā kīnā ʻole o ka naʻau, ka nalo ʻana o ka pepeiao, a me nā ʻano maka ʻole o ka maka.
• Hoʻomaʻamaʻa no ka paʻa paʻa a me ka reflux gastroesophageal (GERD).

ʻO Rubinstein-Taybi Mātuna Pūʻulu USA: www.rubinstein-taybi.com

Hiki i ka hapanui o nā keiki ke aʻo i ka heluhelu ma ke kula haʻahaʻa. Ua hoʻolohi ka hapa nui o nā keiki i ka hoʻomohala kaʻa, akā ma ka awelika, aʻo lākou e hele wāwae i ka 2 1/2 mau makahiki.

Pili nā pilikia ma ka ʻāpana o ke kino e hoʻopili ʻia. Komo pū nā pilikia:

• ʻO ka hānai ʻana i nā pilikia i nā pēpē
• ʻO nā maʻi pepeiao hou a me ka nalo ʻana o ka lohe
• Nā pilikia me ke kinona o ka puʻuwai
• Kuʻi naʻau maʻamau
• ʻArr ʻili o ka ʻili

Kuhi ʻia kahi koho me kahi genistist inā ʻike ka mea hāʻawi i nā hōʻailona o RTS.

Kūkā ʻia nā ʻōlelo aʻoaʻo genetic no nā kāne me ka moʻolelo ʻohana o kēia maʻi e hoʻolālā nei i kahi hāpai.

ʻO Rubinstein maʻi maʻi, RTS

Burkardt DD, Graham JM. Ka nui o ke kino maʻamau a me ka nui. I: Ryeritz RE, Korf BR, Grody WW, hua. Nā Kumumanaʻo a Emery a me Rimoin a me ka Hoʻomaʻamaʻa ʻana i nā Genetics Lapaʻau a me nā Genomics. ʻEpekema 7 Cambridge, MA: Elsevier Academic Press; 2019: chap 4.

Nussbaum RL, McInnes RR, Willard HF. Nā genetics hoʻomohala a me nā kīnā hānau. I: Nussbaum RL, McInnes RR, Willard HF, hua. Thompson & Thompson Genetics i ka Lapaʻau. 8th ed. Piladelapia, PA: Elsevier; 2016: chap 14.

Stevens CA.ʻO Rubinstein-Taybi maʻi. Nā Manaʻo Gene. 2014; 8. PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. Hoʻohou ʻia ʻAukake 7, 2014. Loaʻa iā Iulai 30, 2019.