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Ductular hypoplasia (Alajill syndrome)
Last reviewed: 23.04.2024
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[Symptoms of Ductular Hypoplasia (Alagill's Syndrome)?
D. Alajill distinguishes between isolated ductular hypoplasia and syndrome, combined with other visceral anomalies.
In the first variant (isolated ductular hypoplasia), cholestasis with jaundice appears on the 1st month of life, and then the disease progresses steadily, until the formation of biliary cirrhosis of the liver. In some children, the disease manifests later - at the 2 nd year of life; sometimes jaundice can be completely absent, and the development of cholestasis is confirmed only by the presence of skin itching and laboratory indicators.
With the combination of duktular hypoplasia with other developmental anomalies, some characteristic signs are revealed. For example, in the face structure of children with Alagill's syndrome, a prominent forehead, an enlarged interorbital gap (hypertelorism), a position of the eyeballs deep in orbits, etc. Are visible. From the side of the cardiovascular system, hypoplasia or stenosis of the pulmonary artery, in some cases - the tetralogy of Fallot. There may be a lag in development, combined with an anomaly of the structure of the vertebrae, and with age, this lag is becoming less noticeable.
In both variants of the hypothyroid hypoplasia, the picture of chronic hepatitis develops. Jaundice may be absent, but early and constantly there is a significant increase in liver size, mainly due to the left lobe. Consistency of the organ is moderately dense, the surface is smooth. At palpation the liver is painless. Often the spleen is simultaneously enlarged. An early skin pruritus is typical for this pathology. There may be xanthums on the back surface of the finger joints, palms, neck, in the popliteal cavity, inguinal region. From laboratory signs typical high cholesterol, total lipids, elevated parameters of alkaline phosphatase. If jaundice is present, moderate hyperbilirubinemia (2-4-fold increase) is predominantly due to the conjugated fraction. The increase in the activity of transaminases varies within a small range.
Differential diagnostic criteria for the delimitation of duodular hypoplasia and CHB are cholestasis and jaundice in the first disease and the absence of such in the second, persistent biochemical signs of cholestasis and the absence of HBs-antigenemia in duennular hypoplasia.