abilirubinuria jaundice syndrome
Introduction
Introduction to no biliary pigmentary urinary jaundice syndrome Abdominal Apoplexy Syndrome, also known as hereditary spherocytosis, is a congenital defect in erythrocyte membrane characterized by acute hemolytic anemia and jaundice in the chronic process. The number of spherical cells in the blood increases, and the osmotic fragility of red blood cells increases. basic knowledge Sickness ratio: 0.001%-0.002% Susceptible people: good for infants and young children Mode of infection: non-infectious Complications: cholelithiasis gout erythema
Cause
No biliary pigmentary jaundice syndrome
Etiology: hereditary congenital defects.
Prevention
No biliary pigmentary urinary jaundice syndrome prevention
1. Premarital health checkup
Men and women who have been determined to have a relationship should undergo a comprehensive system of health checks before proceeding with the marriage registration process. In particular, it is important to avoid close relatives getting married. Offspring of close relatives who suffer from mental retardation, congenital malformations, and various genetic diseases are several times more likely to marry than non-close relatives.
2. Pre-pregnancy genetic counseling
Both men and women or one party, if there are genetically ill patients in their relatives, are worried about whether they will have the same genetic disease after marriage, they should be consulted whether they can get married, if the consequences of marriage are serious; one of the two parties has a certain disease, but I do not know Is there a chance of getting a genetic disease, can it be married, and passed on to future generations? The doctor will make a clear diagnosis and give a reasonable treatment.
3, prenatal screening to avoid the birth of the child
Prenatal screening is mainly for diseases that currently have no good treatment, and the purpose is to prevent the birth of defective children. Usually in the 16th to 20th week of pregnancy, 2-3 ml of peripheral blood of pregnant women should be examined. If the risk of high risk is found (high risk factor exceeds 1/270), further amniocentesis should be taken to confirm the diagnosis.
Complication
No biliary pigmentary urinary jaundice syndrome complications Complications cholelithiasis gout erythema
It is prone to complications such as hemolytic crisis, cholelithiasis, gout, stubborn ankle ulcer or lower limb erythematous ulcer.
Hemolytic crisis This disease is mainly a hereditary disease that produces a blood type immune response due to blood group incompatibility between mother and baby. The dominant antigen inherited by the fetus is lacking in the mother. The antigen enters the mother, and the produced immune antibody (IgG) can enter the fetal blood circulation through the placental chorion, bind to the fetal red blood cell surface receptor, activate the complement, and make it Destruction and hemolysis, causing anemia and edema, hepatosplenomegaly and progressive severe jaundice in a short time after birth, and even bilirubin encephalopathy.
A disease in which the bile duct or gallbladder produces gallstones and causes severe abdominal pain, jaundice, fever, etc., is called "cholelithiasis." Cholelithiasis is the most common biliary disease.
Gout is a crystal-associated joint disease caused by deposition of monosodium urate (MSU), which is directly related to hyperuricemia caused by a decrease in sputum metabolism and/or uric acid excretion, especially acute characteristic arthritis. Chronic tophi stone diseases, mainly including acute onset arthritis, tophi formation, tophus chronic arthritis, urate nephropathy and urinary acid urinary calculi, severe joint disability and renal insufficiency.
Ulcer is a localized defect or ulceration of the skin or mucosal surface tissue. The surface is often covered with pus, necrotic tissue or ecdysis. The scar is left behind, which can be caused by infection, trauma, nodules or tumor rupture. Its size, shape, depth, development process, etc. are also inconsistent. Often combined with chronic infection, may not heal for a long time. Such as gastric ulcer, duodenal ulcer, chronic ulcer of the calf.
Symptom
No biliary pigmentary urinary jaundice syndrome symptoms common symptoms high fever nausea jaundice muscle soreness
Mainly manifested as anemia, multiple episodes of jaundice and splenomegaly, this syndrome can often occur in early childhood, some patients are found in middle age due to aggravation of symptoms, childhood often caused by anemia caused by anemia, hemolysis During the period, due to the strong compensatory function of bone marrow, anemia may be mild or non-existent, easy to be ignored, jaundice may occur during hemolysis, but the severity is different. Almost all patients have splenomegaly, mostly mild to medium Swelling, the liver may be slightly enlarged or not swollen, infection, fatigue or emotional excitement can cause acute hemolysis, even hemolytic crisis, manifested as sudden high fever, nausea and vomiting, low back muscles, muscle pain, liver and spleen pain and Anemia is aggravated, infection can also cause sudden bone marrow aplastic disorders, anemia can be aggravated, symptoms of cholelithiasis can occur, and even chronic ulcers of the lower extremities can be seen.
Examine
Examination of no biliary pigmentary urinary jaundice syndrome
In the non-acute episode, hemoglobin can be normal. When hemolysis crisis or bone marrow regeneration crisis occurs, hemoglobin is significantly decreased, reticulocytes are mostly between 5% and 20%, and spherical red blood cells are the most prominent, red blood cell permeability. Significantly increased, when the hemolysis occurred, the serum jaundice index increased, the indirect bilirubin increased, while the direct bilirubin increased, the urinary bilirubin was negative, the urinary bilirubin and urinary bilirubin increased, and the red blood cell survival time was significantly shortened. The erythroid hyperplasia is active in the bone marrow, and it is regenerated when a crisis of aplastic disorder occurs.
Diagnosis
Diagnosis and differentiation of biliary-free urinary jaundice syndrome
