ʻO Crigler-Najjar Syndrome

ʻO Crigler-Najjar Syndrome kahi maʻi hoʻoilina nui loa i hiki ʻole ke wāwahi ʻia ʻo bilirubin. ʻO Bilirubin kahi mea i hana ʻia e ke ake.

Hoʻololi kahi enimme i ka bilirubin i kahi ʻano i hiki ke hemo maʻalahi mai ke kino. Hana ʻia ka maʻi Crigler-Najjar ke hana ʻole kēia enzyme pono. Me ka ʻole o kēia enzyme, hiki i ka bilirubin ke kūkulu i loko o ke kino a alakaʻi iā:

• Jaundice (melemele discoloration o ka ʻili a me nā maka)
• Poino i ka lolo, nā mākala, a me nā aʻalolo

ʻAno I Crigler-Najjar ke ʻano o ka maʻi e hoʻomaka i ke kakahiaka nui. ʻAno II Crigler-Najjar maʻi e hoʻomaka paha ma hope i ke ola.

Holo ka maʻi i loko o nā ʻohana (hoʻoilina). Pono e loaʻa i kahi keiki kahi kope o ka ʻāpana hemahema mai nā mākua ʻelua e hoʻomohala i ke ʻano koʻikoʻi o ke ʻano. ʻO nā mākua he halihali (me hoʻokahi wale nō kīnā hemahema) i ka hapalua o ka hana enzyme o kahi mākua maʻamau, akā AOLE i loaʻa nā ʻōuli.

Pākuʻi ʻia paha nā ʻōuli:

• Huikau a hoʻololi i ka noʻonoʻo
• ʻO kaʻili melemele (jaundice) a melemele i nā keʻokeʻo o nā maka (icterus), e hoʻomaka i kekahi mau lā ma hope o ka hānau ʻana a ʻoi aku ka maikaʻi o ka hala o ka manawa.
• Lethargy
• ʻAi hānai maikaʻi ʻole
• ʻO ka luaʻi

ʻO nā ho'āʻo o ka hana ate ke:

• Conjugated (nakinaki ʻia) bilirubin
• Ka nui o ka pae bilirubin
• Bilcubin unconjugated (ʻole paʻa) i ke koko.
• ʻIno Enzyme
• ʻO ka biopsy ate

Pono ka mālama māmā (phototherapy) i ke ola o ke kanaka. I nā pēpē, hana kēia i ka hoʻohana ʻana i nā kukui bilirubin (bili a i ʻole nā ​​'blue' lights). ʻAʻole holo pono ʻo Phototherapy ma hope o ka makahiki 4, no ka mea, pale ka ʻili mānoanoa i ke kukui.

Hiki ke hana i kahi hoʻoliʻiliʻi ate i kekahi poʻe me ka maʻi ʻano I.

Hiki i nā transfusions ke kōkua i ke kaohi i ka nui o ka bilirubin i ke koko. Hoʻohana ʻia nā pūnina kalipuna i kekahi manawa e hemo i ka bilirubin i ka ʻōpū.

Hoʻohana ʻia ka lāʻau phenobarbitol i kekahi manawa e mālama i ka maʻi II Crigler-Najjar Syndrome.

ʻAʻole nā ​​ʻano momona o ka maʻi (ʻano II) e hōʻino i ke ake a i ʻole nā ​​loli i ka noʻonoʻo ʻana i ka wā kamaliʻi. Loaʻa ka jaundice i ka poʻe i hoʻopilikia ʻia me kahi ʻano akahai, akā ʻoi aku ka liʻiliʻi o ko lākou mau ʻōuli a me ka hōʻemi ʻana o nā meaola.

ʻO nā pēpē me ka ʻano koʻikoʻi o ka maʻi (ʻano I) hiki ke hoʻomau i ka loaʻa ʻana o ka jaundice i ke ʻano makua, a pono paha e mālama ʻia i kēlā me kēia lā. Inā ʻaʻole e mālama ʻia, e alakaʻi kēia ʻano maʻi nui i ka make i ka wā kamaliʻi.

ʻO ka poʻe me kēia ʻano i hiki i ke kūlana makua e hoʻomāhuahua i ka lolo ma muli o ka jaundice (kernicterus), ʻoiai me ka lapaʻau maʻamau. ʻO ke ola ke ola no ka maʻi maʻi I he 30 mau makahiki.

ʻO nā pilikia i hiki ke hoʻopili ʻia:

• ʻO kahi ʻano o ka lolo i hōʻino ʻia e jaundice (kernicterus)
• ʻIli melemele / mau maka

E ʻimi i nā ʻōlelo aʻoaʻo kūpuna inā ʻoe e hoʻolālā i nā keiki a loaʻa kahi moʻolelo ʻohana o Crigler-Najjar.

Kāhea i kāu kahu mālama ola inā loaʻa iā ʻoe a i ʻole paha o kāu pēpē pēpē he jaundice e hele ʻole.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe me ka moʻolelo ʻohana o Crigler-Najjar Syndrome e makemake nei e hānau keiki. Hiki i nā hoʻāʻo ʻana i ke koko ke hoʻomaopopo i ka poʻe e hāpai ana i ka loli.

ʻO ka nele o Glucuronyl transferase (ʻano I Crigler-Najjar); Arias syndrome (ʻano II Crigler-Najjar)

• Anatomia akepau

ʻO Kaplan M, Wong RJ, Burgis JC, Sibley E, Stevenson DK. ʻO ka jaundice neonatal a me nā maʻi ate. I: Martin RJ, Fanaroff AA, Walsh MC, hua. ʻO Fanaroff lāua ʻo Martin's Neonatal-Perinatal Medicine. 11th hua. Piladelapia, PA: Elsevier; 2020: chap 91.

Lidofsky SD. ʻO Jaundice. I: Feldman M, Friedman LS, Brandt LJ, eds. ʻO Sleisenger a me Fordtran's Gastrointestinal a me ka maʻi ate. 11th hua. Piladelapia, PA: Elsevier; 2021: chap 21.

Peters AL, Balistreri WF. Nā maʻi Metabolic o ke ake. 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 384.