This digestive tract disease is a bit strange - Alagille syndrome

This is the 3905th article of Da Yi Xiao Hu

Yellow child

On September 26, 2014, Xiaojun (pseudonym), who was only two months old and had yellow skin and eyes, was admitted to the gastroenterology ward of the Capital Institute of Pediatrics. Examination revealed that Xiaojun's liver function was severely damaged, his bilirubin was significantly elevated, and abdominal imaging examinations showed an enlarged liver and poor gallbladder development. Before Xiaojun came to the Capital Institute of Pediatrics, he had been treated many times in local hospitals, but the cause of the disease was still unknown. Director Zhong of the Gastroenterology Department asked Director Li of the General (Neonatal) Surgery Department to perform a bile duct exploration surgery on Xiaojun to understand the development of the bile duct and perform a liver biopsy. The results of the surgery showed that Xiaojun's entire bile duct was dysplastic and the intrahepatic bile duct atresia had disappeared.

At that time, Director Zhong thought that Xiaojun might have a rare disease, Alajille syndrome, a disease that had only been heard of but never actually seen. In order to make a clear diagnosis as quickly as possible, the gastroenterology team began to complete the examinations related to this disease. Xiaojun's eyes had a posterior corneal embryonic ring, a characteristic change in the eye of this disease, accompanied by hearing loss. Xiaojun's parents also inadvertently revealed to the doctor that before Xiaojun was born, their first baby had died due to severe cholestasis combined with congenital heart disease. Now, combined with family history, the doctor conducted a genetic test on Xiaojun and his parents, and the results showed that it was a Jaggedl gene mutation (+), and finally a clear diagnosis of Alagille syndrome was made.

Afterwards, the doctors immediately provided Xiaojun with nutritional support and treatment to protect liver function, and helped him with bile duct flushing and drainage to facilitate bile discharge. After that, Xiaojun also needs to go to the hospital for regular follow-up examinations and monitor various indicators to help understand the prognosis of the disease...

What is Alagille syndrome?

Alagille syndrome is the most common cause of chronic cholestasis with typical characteristics. It is a dominant hereditary disease involving multiple systems. The syndrome was first reported by Alagille et al. in 1969. The organs involved in Alagille syndrome include the liver, bones, heart, eyes and face. Foreign reports show that the incidence of the disease is about 1/70,000.

What are the symptoms of Alagille syndrome?

Both boys and girls may be affected, with mild jaundice occurring within 3 months after birth. Intrahepatic cholestasis is the main feature of the disease; severe itching, prominent forehead, large distance between eyes and nose, small and pointed chin; systolic murmur of the pulmonary valve; split and non-fused anterior arch of the spine, no scoliosis, varying degrees of intellectual retardation; testicular dysplasia.

How is Alagille syndrome diagnosed and treated?

Alagille syndrome is one of the important causes of chronic cholestatic liver disease in infancy. The syndrome is difficult to diagnose in the early stage and is easily misdiagnosed as biliary atresia.

There is no specific treatment for this disease. Cholestyramine or some traditional Chinese medicine can be given to treat cholestasis, and a certain amount of fat-soluble vitamins can be supplemented.

This project is funded by Shanghai Science Education Development Foundation (Project No.: B202117)

Author: Shanghai Jing'an District Central Hospital

Dr. Xia Lemin