Pediatric familial nonhemolytic jaundice syndrome

Introduction to familial non-hemolytic jaundice syndrome in children Familial non-hemolytic jaundice syndrome (Gilbertsyndrome), also known as Gilbert syndrome, Gilbert disease, hyperbilirubinemia type I, congenital non-hemolytic jaundice-non-binding, Gilbert-Lereboullet syndrome, Meulengracht syndrome, Physic liver dysfunction syndrome, intermittent jaundice in adolescents, physiological hyperbilirubinemia and so on. There is often a family history, 25% of the parents, and 50% of the siblings have elevated serum bilirubin, so it is thought that this symptom may be transmitted by a dominant gene with incomplete penetrance. basic knowledge Sickness ratio: 0.0001% Susceptible people: infants and young children Mode of infection: non-infectious Complications: bloating

The cause of familial non-hemolytic jaundice syndrome in children

genetic factors:

The disease is autosomal dominant, and there is a congenital defect in the process of transforming free bilirubin into conjugated bilirubin, resulting in clinical jaundice.

Pathogenesis

The pathogenesis of this disease is not fully understood. The reason for the increase of bilirubin is generally believed to be due to the lack of glucuronyl transferase in hepatocytes, which can not effectively form conjugated bilirubin, causing bilirubin to remain in the blood. Astragalus and Astragalus are classified as hepatic jaundice according to pathology. Hepatocytes have congenital defects in the metabolism of bilirubin, that is, congenital defects in the process of transforming free bilirubin into conjugated bilirubin.

Prevention of familial non-hemolytic jaundice syndrome in children

Have a family history, is an autosomal dominant inheritance, should do a good job in genetic disease counseling.

Complications of pediatric familial non-hemolytic jaundice syndrome Complications

There are generally no obvious complications.

Symptoms of familial non-hemolytic jaundice syndrome in children Common symptoms Scleral yellow staining Astragalus bilirubin increased dyspepsia Bloating biliary excretion blocked

Both men and women can be sick, the ratio of male to female is 4:1. Most of the symptoms of this jaundice appear before puberty, and soon after the birth, it may not be noticed for many years. The yellowing of the sclera is the only symptom, and the patient is intermittently light. Degree of jaundice, often due to fatigue, mood fluctuations and other factors, jaundice deepened, no liver, most asymptomatic, or only mild indigestion, upper abdominal pain and fatigue and other symptoms are often misdiagnosed as hepatitis, elevated blood bilirubin It is characterized by an increase in fasting and a decrease in phenobarbital.

Examination of familial non-hemolytic jaundice syndrome in children

1. Bilirubin examination intermittent increase of bilirubin, total bilirubin is often higher than 51.3mol / L, increased when fasting, taking phenobarbital decreased, indirect reaction was positive.

2. Liver function tests Transaminase and other tests are normal.

Abdominal B-ultrasound should be performed without hepatosplenomegaly.

Diagnosis and diagnosis of familial non-hemolytic jaundice syndrome in children

Clinical manifestations of mild jaundice and gastrointestinal symptoms, laboratory examination of the total amount of blood bilirubin in 80% of cases higher than 51.3mol / L, almost all of the increase is free bilirubin, indirect reaction positive, liver function and liver The histological examination was normal.

It is differentiated from jaundice hepatitis and differentiated from G-6-PD.

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