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Alagille syndrome (Watson-Miller syndrome) is a rare disorder caused by a mutation of the Jagged1 (JAG1) gene - AGS type 1, and in 2% of cases of the NOTCH2 gene - AGS type 2, with an autosomal dominant type of inheritance. The disorder affects numerous organs, including the liver, heart, kidneys, eyes, musculoskeletal and nervous systems, with impaired function.
Patients with Alagille syndrome are usually diagnosed with:
In addition to numerous malformations on the part of the facial skull, ocular apparatus, heart, spine and other organs and systems, liver diseases in Alagille syndrome are the most common. Alagille syndrome is often accompanied by renal anomalies: cysts and obstruction of the ureter and pelvis, renal tubular acidosis, which can occur in 74% of cases.
As a result of vascular damage (anomalies of the basilar, carotid and middle cerebral arteries, renovascular anomalies, middle aortic syndrome (segmental narrowing of the thoracic or abdominal aorta) and moyamoya syndrome (gradual progressive narrowing of the lumen of the intracranial segments of the internal and intracranial bleeding due to relatively minor head trauma.
Also, most patients with Alagille syndrome have significant growth retardation.
Malabsorption and malnutrition can lead to a delay in the development of the body. In 40% of patients with Alagille syndrome, dysfunction (exocrine and endocrine) of the pancreas is diagnosed.
At the Oberig clinic, specialists from the Center for Liver and Pancreatic Surgery provide specialized care to patients with Alagille syndrome, including drug treatment and liver transplantation in case of worsening liver failure. Contact us!
Alagille syndrome, also known as Watson-Miller syndrome, is a rare disorder caused by a mutation in the Jagged1 (JAG1) gene - AGS type 1, and in 2% of the NOTCH2 gene - AGS type 2, with an autosomal dominant pattern of inheritance. The disorder affects numerous organs, including the liver, heart, kidneys, eyes, musculoskeletal and nervous systems, with impaired function.
In 1969, Daniel Alagille (French pediatric hepatologist) and his colleagues published a research paper detailing the characteristics of a syndrome he called "Bile Duct Insufficiency Syndrome". The research article described 25 children with "bile duct insufficiency syndrome" who, in addition to liver dysfunction, had specific renal and cardiac dysfunctions, anatomical changes in the face and spine. He believed that this combination of pathologies is due to one etiology.
A few years later, in 1973 at the Royal Manchester Children's Hospital, British physicians Geoffrey H. Watson and W. Miller described 9 cases of neonatal liver disease and pulmonary stenosis in infants with the hypothesis of family inheritance of this new syndrome. In 1975, D. Alagille and his colleagues noticed that 15 out of 30 hospitalized children with chronic cholestasis caused by hypoplasia of the liver ducts were also diagnosed with a combination of characteristic facial features, malformations of the vertebral arches in the form of a butterfly, mental heart. and sexual development. As a result, the totality of these pathologies was identified as Alagille syndrome.
The observations documented by scientists prompted research into the mode of inheritance of Alagille syndrome, which has been established as an autosomal dominant mode of inheritance despite variations in the manifestation of the disease. In 1986, E. Berne and his colleagues documented a deletion of chromosome 20 in a female infant with arterial hepatic dysplasia. In 1994 and 1997, almost 30 years after the first publications describing Alagille syndrome, several genetic research groups independently identified pathogenic variations in JAGGED1 (or JAG1) using accurate mapping methods for chromosome 20 in patients with the syndrome. In the 2000s the researchers also identified variants of the NOTCH2 gene in a small number of patients with Alagille syndrome. In total, genetic variations in JAG1 (94%-96%) and NOTCH2 (1%-2%) account for approximately 97% of cases of Alagille syndrome.
Treatment of Alagille syndrome includes symptomatic drug therapy and liver transplantation for increasing signs of liver failure.
The Center for Liver and Pancreas Surgery of the Obereg Universal Clinic specializes in the treatment of Alagille syndrome, helping patients save life and its quality, even in difficult cases when the situation requires liver transplantation. This operation for Ukrainian patients has recently become free of charge thanks to cooperation with the NSZU.
Alaghil's syndrome is a rare disease that has numerous clinical manifestations - from disturbances in the structure of the facial skull to significant defects in the heart, liver, kidneys, eyes, and spine. Alagille syndrome is caused by a gene mutation with an autosomal dominant inheritance pattern. There is no specific treatment for Alaghil syndrome. Therapy is aimed at preventing and monitoring complications: increasing the outflow of bile from the liver, reducing the degree of itching, maintaining normal growth and development.
On the part of the liver, Alaghil's syndrome is characterized by a smaller number of hepatic ducts. This leads to a decrease in the outflow of bile from the liver, which impairs the digestion of dietary fats and the absorption of vitamins (A, D, E, K). The key clinical features of Alagille syndrome are growth retardation, pruritus, and progressive liver damage.
Persistent cholestasis usually occurs in the majority (approximately 95%) of cases, and these patients may have neonatal or early infantile (within the first 3 months of life) jaundice.
In patients with Alagille syndrome, liver function disorders are characterized by an increase in total and direct bilirubin, an increase in the concentration of bile acids in the blood plasma, generalized itching, and xanthomas.
Histologically, a decrease in the number of intrahepatic bile ducts is usually diagnosed in the liver (bile duct to portal tract ratio < 0.4). Persistent cholestasis and progressive hepatocellular injury lead to cirrhosis and progressive liver failure. An increase in the level of bilirubin in the blood plasma during early childhood (at the age of 1-2 years), liver fibrosis and the presence of xanthoma can lead to a deterioration of liver function.
About 15% of people with Alagille syndrome develop cirrhosis of the liver.
This condition is an indication for liver transplantation, and we advise patients with Alaghil syndrome to contact Oleg Gennaiyovych Kotenko, MD. Sciences, the most famous transplant doctor of Ukraine, who has more than 25 years of practice and many internships in the world centers of transplantology.
The trained and coordinated team of the Center for Liver and Pancreatic Surgery possesses perfect methods of examination, operative treatment and postoperative care, which gives the patient a chance for life with the highest possible quality with this disease.
The results of operative treatment at the Center for Liver and Pancreatic Surgery are truly impressive — the 5-year survival rate after transplantation is 80%, and results in improved liver function in 90% of cases.
Early diagnosis and treatment can help people with Alagille syndrome live longer and more comfortably. The prognosis depends on the severity of the obstruction
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