Crigler-Najjar cillad

Crigler-Najjar syndrome waa cillad aad u yar oo la iska dhaxlo oo aan bilirubin la jebin karin. Bilirubin waa walax uu sameeyo beerka.

Enzyme wuxuu u beddelaa bilirubin qaab si fudud jidhka looga saari karo. Crigler-Najjar syndrome wuxuu dhacaa marka enzyme-kan uusan si sax ah u shaqeyn. Enzyme-kan la'aanteed, bilirubinku wuxuu ku dhismi karaa jirka wuxuuna u horseedi karaa:

• Cagaarshow (maqaarka iyo indhaha oo midab jaalle noqda)
• Dhaawaca maskaxda, muruqyada, iyo neerfaha

Nooca I Crigler-Najjar waa nooc ka mid ah cudurka oo bilaabma nolosha hore. Nooca II Crigler-Najjar syndrome wuxuu bilaabmi karaa nolosha dambe.

Cillad xanuunka wuxuu ku dhacaa qoysaska (dhaxal ahaan). Ilmuhu waa inuu ka helaa nuqul hidda-wadaha cilladaysan labada waalidba si uu u yeesho qaabka daran ee xaaladda. Waalidiinta sidayaasha (oo leh hal hiddo oo cilladaysan) waxay leeyihiin kalabar nashaad firfircoonida enzyme ee qof weyn oo caadi ah, laakiin AADAN lahayn calaamado.

Calaamadaha waxaa ka mid noqon kara:

• Jahwareer iyo isbeddelo xagga fikirka ah
• Maqaarka huruudda ah (cagaarshowga) iyo huruudda cad ee indhaha (icterus), oo bilaabma dhowr maalmood dhalashada ka dib oo ka sii daraya waqtiga
• Daallan
• Quudin xumo
• Matagid

Tijaabooyinka shaqada beerka waxaa ka mid ah:

• Bilirubin isku xidhan (xidhan)
• Wadarta heerka bilirubin
• Bilirubin dhiig la'aan ah (aan xirnayn).
• Enzyme baaritaan
• Cad ka-qaadista beerka

Daaweynta khafiifka ah (fototerapi) ayaa loo baahan yahay nolosha qofka oo dhan. Dhallaanka, tan waxaa lagu sameeyaa iyadoo la isticmaalayo nalalka bilirubin (nalalka bili ama 'buluug'). Fototerapi ma u shaqeyso sida ugu fiican ka dib da'da 4, maxaa yeelay maqaarka qaro weyn ayaa xiraya iftiinka.

Qalitaanka beerka ayaa lagu samayn karaa dadka qaarkiis ee qaba cudurka nooca I.

Ku shubista dhiigga ayaa laga yaabaa inay gacan ka geysato xakameynta xaddiga bilirubin ee dhiigga ku jira. Kaalshiyamka kaalshiyamka waxaa mararka qaarkood loo isticmaalaa in laga saaro bilirubin xiidmaha.

Daawada phenobarbitol waxaa mararka qaarkood loo isticmaalaa in lagu daaweeyo nooca II Crigler-Najjar syndrome.

Noocyada qafiifka ah ee cudurka (nooca II) ma keenaan dhaawac beerka ah ama isbeddel ku yimaada fikirka inta lagu jiro carruurnimada. Dadka uu ku dhacay qaab fudud wali waxay leeyihiin cagaarshow, laakiin waxay leeyihiin astaamo kayar iyo dhaawac soo gaara xubnaha jirka.

Dhallaanka qaba nooca daran ee cudurka (nooca I) waxaa laga yaabaa inuu kusii socdo cagaarshowga ilaa ay qaangaaraan, waxayna u baahan karaan daaweyn maalinle ah. Haddii aan la daweyn, qaabkan daran ee cudurka wuxuu u horseedi doonaa dhimasho carruurnimada.

Dadka qaba xaaladan oo qaangaar ah waxay ku dhacdaa dhaawac maskaxeed sababo cagaarshow (kernicterus), xitaa daaweyn joogto ah. Cimriga nooca cudurka I waa 30 sano.

Dhibaatooyinka suuragalka ah waxaa ka mid ah:

• Nooca dhaawaca maskaxda ee uu keeno cagaarshowga (kernicterus)
• Maqaarka / indhaha oo huruud ah

Raadi la-talin hidde ah haddii aad qorsheyneyso inaad carruur dhasho oo aad yeelato taariikh qoys oo Crigler-Najjar ah.

Wac daryeel caafimaad bixiyahaaga haddii adiga ama ilmahaaga dhasha aad qabtid cagaarshow aan dhammaanayn.

La-talinta hidda-sidaha waxaa lagula talinayaa dadka leh taariikh qoys ee Crigler-Najjar syndrome oo raba inay carruur dhalaan. Tijaabooyinka dhiigga ayaa lagu aqoonsan karaa dadka xambaarsan isbeddelka hidde-sideyaasha.

Yaraanta gudbinta 'Glucuronyl' (nooca I Crigler-Najjar); Arias syndrome (nooca II Crigler-Najjar)

• Anatomy beerka

Kaplan M, Wong RJ, Burgis JC, Sibley E, Stevenson DK. Cudurka cagaarshowga carruurta iyo cudurada beerka. Gudaha: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff iyo Martin ee Neonatal-Perinatal Medicine. 11aad. Philadelphia, PA: Elsevier; 2020: baab 91.

Lidofsky SD. Cagaarshow Gudaha: Feldman M, Friedman LS, Brandt LJ, eds. Cudurka caloosha iyo beerka ee Sleisenger iyo Fordtran. 11aad. Philadelphia, PA: Elsevier; 2021: cutubka 21.

Peters AL, Balistreri WF. Cudurrada dheef-shiid kiimikaadka ee beerka. Gudaha: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Buugga Buugga Caafimaadka Caruurta. 21aad ed. Philadelphia, PA: Elsevier; 2020: baab 384.