Sasha Bella at her prime reading at home, November 2005, with undetected portal hypertension a few weeks before the second heart surgery and massive unexpected complications

ALAGILLE SYNDROME RESOURCES

Parent resources

The Alagile Syndrome Alliance Alagille Syndrome Message Board

Signup for the CLiC Patient Contact Registry to be contacted in the future about clinical research opportunities.

Discovery of Alagille Syndrome

In 1975, a pediatric hepatologist in France first described a group of children with cholestatic liver disease that also exhibited other features including heart problems and characteristic facial features. This disorder has been referred to as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia, but is most commonly known as Alagille syndrome. CHOP

Symptoms of Alagille Syndrome

Nutritional malabsorpotion, jaundice, itching due to build up of bile salts, lowered oxygen saturations.

Definitions

Alagille syndrome is a genetic disorder estimated to occur in 1 of 70,000 to 100,000 birth caused by mutations in the JAG1 and NOTCH2 genes. These genes help proteins fit or notch together. JAG1 or NOTCH2 gene mutations disrupt cellular signaling during embryonic development of the heart, bile ducts (liver), spine, kidneys and eyes. Paucity, narrowing and malformed bile ducts allow bile to build in the liver and cause scarring that inhibits the liver functions that eliminate wastes from the bloodstream. Heart conditions range from mild to serious and include stenosis, tetralogy of fallot and pulmonary atresia.

Sasha had pulmonary atresia and Alagille Syndrome and so truly was one in a million. Sasha was palliative but we did not allow ourselves to truly understand what this mean't. We put her through 5 catheterizations and 2 heart surgeries. If your child's cardiac condition is not too severe, you can look forward to a long life with a very special child. If your child has Alagille Syndrome and pulmonary atresia like Sasha please look at Australian research showing almost 100% mortality and please read about three and a half year old Larson's carepages. Please do an endoscopy to show if there is developed portal hypertension and increased risk of bleeding. Please consider not cutting your child a hundred times more than you signed up for with a pulmonary uni-focalisation.

Overview webpages

The Cholestatic Liver Disease Consortium (CLiC) is a collaborative team of doctors, nurses, research coordinators, and patient support organizations throughout the US and London, UK working together to improve the lives of children and families dealing with rare Cholestatic Liver Diseases. The goal of the CLiC team is to investigate five genetic causes of intrahepatic cholestasis and to train the next generation of clinical researchers.

Excite Health Encyclopedia on Alagille Syndrome First Principles of Gastroenterology - Cholestasis, Portal Hypertension, Ascites
TIPS Proceedure (Transjugular Intrahepatic Portosystemic Shunt) Children's Hospital Boston,Cleveland Clinic, Baylor College
TIPS complications: penetrating the hepatic artery, encephalopothy
"If the patients liver failure is bad enough that they are close to complete liver failure, the TIPS procedure can push the patient into complete liver failure." (Washington University School Of Medicine)

HOSPITAL PROGRAMS FOR ALAGILLE SYNDROME

Children's Hospital Of Philadephia (CHOP) - Welcome to the Alagille Syndrome Clinical Care Program
CHOP Alagille Syndrome Glossary
Gene Discovery May Shed Light On Kidney Diseases; Second Gene Found For Alagille Syndrome May Have Broader Role

Genetics

Genetics Home reference on Alagille Syndrome - a service of the U.S. National Library of Medicine
OMIM - Online Mendelian Inheritance in Man
ALAGILLE SYNDROME; ALGS
ALAGILLE-WATSON SYNDROME; AWS
CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS
ARTERIOHEPATIC DYSPLASIA; AHD
HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC see MedicineNet.com entry
ALAGILLE SYNDROME 1; ALGS1
JAGGED 1; JAG1
ALAGILLE SYNDROME 2; ALGS2
NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2>br>
DMOZ Alagille Syndrome directory
Jurg Reichen, Foundation for Research in Liver Decease, Universitšt Bern
Cincinnati Children's Medical Center Alagille information [updated]
Johns Hopkins University - OMIM

Treatment of Alagille syndrome is primarily medical and not surgical and is based on trying to increase the flow of bile from the liver, maintain normal growth and development and prevent or correct any of the specific nutritional deficiencies that often develop. Because bile flow from the liver to the intestine is slow in Alagille syndrome, medications designed to increase the flow of bile are frequently prescribed. This may decrease the damage in the liver and improve the digestion of fat.

Clinical diagnostic criteria for Alagille Syndrome

Nancy B Spinner, PhD; Ian D Krantz, MD; Binita M Kamath, MBBChir Richard Rutter

The clinical diagnostic criteria for Alagille syndrome include: The histological finding of bile duct paucity (an increased portal tract-to-bile duct ratio) on liver biopsy. Although considered to be the most important and constant feature of AGS, bile duct paucity is not present in infancy in many individuals ultimately shown to have AGS. In the newborn, a normal ratio of portal tracts to bile ducts, bile duct proliferation, or a picture suggestive of neonatal hepatitis may be observed. Overall, bile duct paucity is present in about 90% of individuals. Three of the following five major clinical features (in addition to bile duct paucity): Cholestasis Cardiac defect (most commonly stenosis of the peripheral pulmonary artery and its branches) Skeletal abnormalities (most commonly butterfly vertebrae identified in AP chest radiographs) Ophthalmologic abnormalities (most commonly posterior embryotoxon) Characteristic facial features [Alagille et al 1987]

Stories of kids with Alagille Syndrome

Karen and Chris's tribute to Kevin Christopher McLane, Kevin McLane's 2nd birthday party
Colin McCowan
AGS kids page at the Alagille Syndrome Alliance