2 babies were born with endocardial cushion defect and congenital biliary atresia

According to a doctor in Japan, two babies were born with congenital disorders.

@GoodBye_Nuclear
善川チャーリ
ついに現実がきた。同僚の医師ふたり。11月後半に子供が生まれた。ひとりはダウン症候群+心内膜床欠損症で小児循環器専門の病院から「手術不能」と返された。もう一方は、先天性胆道閉鎖症。聞いた瞬間、原発事故を思い浮かべなかったが、1分後に俺は青ざめることに。

Translation:

It’s come to the reality. 2 of my coworkers (doctors) had babies in late November. One of them has Down syndrome and endocardial cushion defect (also known as Atrioventricular septal defect). The Pediatric cardiologist rejected treating him to say he can’t give him a surgery. The other one has congenital biliary atresia.

It took me one minute to associate them to the radiation and make me pale.

(Source)

What is congenital biliary atresia?

Biliary atresia, also known as “extrahepatic ductopenia” and “progressive obliterative cholangiopathy” is a congenital or acquired disease of the liver and one of the principle forms of chronic rejection of a transplanted liver allograft. As a birth defect in newborn infants, it has an occurrence of 1/10,000 to 1/15,000 cases in live births in the United States.[1] In the congenital form, the common bile duct between the liver and the small intestine is blocked or absent. The acquired type most often occurs in the setting of autoimmune disease, and is one of the principle forms of chronic rejection of a transplanted liver allograft.

Infants and children with biliary atresia have progressive cholestasis with all the usual concomitant features: pruritus, malabsorption with growth retardation, fat-soluble vitamin deficiencies, hyperlipidemia, and eventually cirrhosis with portal hypertension. If unrecognized, the condition leads to liver failure — but not kernicterus, as the liver is still able to conjugate bilirubin, and conjugated bilirubin is unable to cross the blood-brain barrier. The cause of the condition is unknown. The only effective treatments are certain surgeries such as the kasai procedure, or liver transplantation. SOURCE

What is Atrioventricular septal defect?

Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as “common atrioventricular canal” (CAVC) or “endocardial cushion defect”, is characterized by a deficiency of the atrioventricular septum of the heart. It is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum. SOURCE

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