neonatal hepatosplenomegaly
Introduction
Introduction to neonatal hepatosplenomegaly In the neonatal period, hepatosplenomegaly is a common clinical symptom, and there are many diseases that cause hepatosplenomegaly, and it is difficult to diagnose and treat. The upper boundary of the normal neonatal liver is generally in the fourth intercostal space of the right clavicle. The lower boundary is generally 1 to 2 cm below the right costal margin. It is more accessible under the xiphoid process, about 2 cm. The spleen cannot be touched or exceeded under the left clavicle midline rib. 1cm, soft texture. If the size of the liver and spleen of the newborn exceeds the above range, it can be considered that the liver card is large. Clinically, neonatal hepatomegaly and splenomegaly should be searched for the cause as soon as possible, with a distinction between benign and self-limiting diseases or malignant lesions. basic knowledge The proportion of illness: 0.003%--0.004% Susceptible people: infants and young children Mode of infection: non-infectious Complications: neonatal sepsis meningitis purulent meningitis pneumonia lung abscess
Cause
Neonatal hepatosplenomegaly
Infectivity (30%):
Such as sepsis caused by various bacterial infections, neonatal hepatitis caused by intrauterine or intrapartum infection, toxoplasmosis caused by protozoal infection, etc., the virus causing neonatal hepatitis is more common with hepatitis B virus, cytomegalovirus, rubella Virus and herpes zoster virus.
Heart disease (15%):
Hepatic enlargement is caused by congestive heart failure and can be seen in hypoxic ischemic myocardial damage after asphyxia. It can also be seen in various congenital heart diseases such as large ventricular septal defect, large vessel displacement, left ventricular dysplasia and aortic stenosis. Wait.
Blood disease (10%):
Such as neonatal maternal and child blood type is not hemolytic disease, hereditary spherocytosis, thalassemia and so on.
Biliary disease (5%):
Mainly congenital biliary malformations.
Genetic metabolic disease (5%):
Such as hepatic glycogen storage disease, galactosemia, hyperlipidemia, tyrosinemia and lipidoid deposition.
Cell proliferation and tumors such as congenital leukemia, malignant histiocytosis, lymphoreticular sarcoma, liver cysts and liver tumors.
The cause of neonatal liver enlargement is divided into two categories according to whether it is accompanied by jaundice, including neonatal hepatitis with jaundice, neonatal hemolytic disease, sepsis, extrahepatic biliary atresia, choledochal cyst, genetic metabolic disease, etc.; Heart failure accompanied by jaundice, immune and non-immune fetal edema, glycogen storage disease, lysosomal disease and liver cysts.
Patients with moderate to severe enlargement of the liver should consider infections caused by various pathogens, congestive heart failure, congenital biliary malformations, hepatic glycogen storage, mucopolysaccharidosis, lipidoid and galactosemia.
The most common causes of neonatal splenomegaly are infection and hemolysis. Neonatal sepsis and neonatal hepatitis can enlarge the liver and spleen. Neonatal blood group incompatibility is the most common hemolytic disease in the neonatal period, followed by G- 6-PD defects, hereditary spherocytosis, thalassemia and sickle cell anemia, other diseases that can cause splenomegalia such as marble bone disease, Gaucher disease, mucopolysaccharidosis, etc. are rare.
Pathogenesis
The liver and spleen are two important organs in the abdominal cavity. They have unique and common points in physiological functions. The two are related to each other in the blood circulation. Therefore, they are often closely related in clinical pathology.
The normal liver and spleen of the newborn are relatively large. The weight of the liver is 120-130 g, which is 4% of the body weight, 2% of the adult, and the weight of the spleen is about 10 g, which is 1/30 of that of the adult.
1. Liver enlargement is prone to liver enlargement in the neonatal period, which is related to pathophysiological characteristics:
(1) It is prone to congestion and swelling: neonatal hepatocytes and hepatic lobules are incompletely differentiated, blood vessels are rich, and it is prone to congestion and swelling. The liver's blood circulation is very rich, in severe cardiac insufficiency, especially heart failure. When the inferior vena cava is blocked, it can cause congestion and hepatomegaly.
(2) Extramedullary hematopoiesis: In the embryonic stage, the liver is the main hematopoietic organ. If there is anemia after birth, the liver will re-enter extramedullary hematopoiesis and cause liver enlargement.
(3) Metabolism and detoxification function: The liver is the largest metabolic organ of the human body, and it is responsible for the metabolism of proteins, fats, sugars and other substances and the detoxification function of toxins. Therefore, some congenital metabolic diseases and toxins can cause liver enlargement.
(4) bilirubin metabolism and excretion function: The liver is a metabolic and excretory organ of bilirubin. The metabolic disorder of bilirubin and the congenital malformation of biliary tract can cause severe hepatomegaly.
(5) Reticuloendothelial system: The liver is an extremely rich organ of the reticuloendothelial system and has a defensive function. When the acute and chronic infection causes the tissue itself to be involved, it may cause hyperplasia and enlargement of the hepatic or reticuloendothelial system.
2. The pathophysiological factors of splenomegaly in splenomegaly are:
(1) Reticuloendothelial system: The spleen is one of the important reticuloendothelial system organs, which is responsible for the defense function of the body. Bacteria, viruses, and parasitic infections can cause splenomegaly, but the spleen itself is extremely rare.
In reticuloendothelial system diseases and metabolic diseases, reticuloendothelial cells phagocytose a large number of abnormal metabolites, which can cause splenomegaly. In addition, the spleen still destroys the aging, damage and abnormal blood cells in the blood circulation, when blood cell damage increases. (such as congenital hemolytic anemia, congenital malaria, etc.), can cause significant swelling of the spleen.
(2) Hematopoietic organs: The spleen and the liver are also one of the hematopoietic organs in the fetus. When the hematopoietic compensatory function is caused by infection and other factors, it can cause splenomegaly.
(3) Blood storage organ: The spleen is a blood storage organ, and the splenic vein flows into the vein. When the portal vein is blocked, the spleen is congested, causing congestive splenomegaly.
(4) Lymphatic organs: The spleen is also a lymphoid organ, so malignant tumors of the spleen (mainly lymphoma and non-lymphocytic leukemia) may have spleen infiltration and splenomegaly.
Prevention
Neonatal hepatosplenomegaly prevention
1, the key to the prevention of neonatal hepatosplenomegaly should be the treatment of the cause, if there is infection, it is necessary to carry out appropriate anti-infective treatment. If there is a blood disease, it should be actively treated and removed. There is correction of heart failure and so on.
2, pregnancy check, early diagnosis after delivery, timely treatment, etc., should be effective preventive measures.
Complication
Neonatal hepatosplenomegaly complications Complications neonatal sepsis meningitis purulent meningitis pneumonia abscess
The complications of hepatosplenomegaly vary depending on the primary disease. For example, hepatosplenomegaly caused by neonatal infectious diseases can be complicated by neonatal sepsis, purulent meningitis, pneumonia, lung abscess, migratory lesions (such as honeycomb Tissue inflammation, osteomyelitis, pyelonephritis, etc.) and multiple organ dysfunction syndrome.
Symptom
Neonatal hepatosplenomegaly symptoms Common symptoms Liver enlargement Obstructive jaundice Liver and hard bloating bleeding tends sepsis
In clinical practice, hepatosplenomegaly caused by various reasons, the degree of performance is not consistent, mostly manifested as liver or spleen involvement, some diseases in the clinical only simple liver or spleen, such as liver The glycogen storage disease is large in the liver, and the splenic vein embolization only shows splenomegaly.
1. Prenatal history such as hepatosplenomegaly caused by hereditary metabolic diseases, family members may suffer from the same disease, hepatosplenomegaly caused by neonatal hemolysis, history of jaundice in the first few fetuses, history of infection during pregnancy For example, Taoqi infection (ie, maternal infection with protoplasma, rubella, cytomegalovirus and herpes virus) can cause congenital abnormalities and hepatosplenomegaly in newborns. Mothers have hepatitis B before birth. It is helpful for the diagnosis of neonatal hepatitis syndrome. The mother has a history of malaria before birth, which can cause neonatal malaria.
2. Birth history Mother's birth time infection can cause neonatal sepsis and cause hepatosplenomegaly.
3. Symptoms of liver splenomegaly have different causes, neonatal clinical symptoms are different, fever or body temperature does not rise, do not eat milk, weight does not increase, abdominal distension, jaundice and other symptoms are often associated with infection, such as neonatal sepsis, newborn Liver abscess, neonatal hepatitis syndrome, etc., children with galactosemia have hypoglycemia, vomiting, jaundice, cataract, etc., obstructive jaundice, neonatal hepatitis syndrome, severe jaundice, grayish white stool and hepatosplenomegaly , neonatal hemolysis, malaria, etc., anemia, jaundice with hepatosplenomegaly, bleeding tendency and purpura, more common in neonatal thrombocytopenic purpura and leukemia.
4. Physical examination first determines whether there is degree of hepatosplenomegaly and enlargement. It is best to carry out the examination when the newborn is quiet. The palpation action should be light. When the liver and spleen are touched, the degree of swelling should be noted. Texture, pay attention to the characteristics of the liver and spleen itself, the degree of hepatosplenomegaly can be used as a reference for the diagnosis and treatment of the observation and prognosis.
(1) Characteristics of the spleen: moving up and down with breathing movement; the position is superficial; the finger between the spleen and the left rib can not be inserted deep; the anterior edge of the spleen has a notch; the direction of the spleen is downward to the right rather than straight Lower; if necessary, adrenalin may be injected as appropriate to reduce the spleen.
(2) Characteristics of the liver: moving with breathing movement; the position is superficial; the finger between the liver and the right rib can not be inserted deep.
1. Hepatosplenomegaly should not only pay attention to the degree of hepatosplenomegaly, hardness, but also pay attention to the smoothness of its surface.
(1) Determining whether there is liver enlargement:
1 pay attention to liver displacement problem: first determine whether the liver is swollen, should pay attention to whether there is displacement, neonatal period to the liver does not mean liver, the position of the newborn liver can be affected by abdominal distension and chest disease, liver position decline Seen in the lungs over-expansion, thoracic deformation, thoracic space-occupying lesions such as effusion, pneumothorax or abscess; in addition, when the abdominal wall muscle relaxation such as muscle weakness or congenital abdominal wall defect, the liver position also decreased; severe ascites can make the liver The position is moved up. Therefore, when observing the size of the neonatal liver, it is necessary to pay attention to the position of the upper and lower boundaries of the liver, except for other factors that cause the liver to shift.
2 pay attention to the problem: the palpation of the neonatal liver should be light, the neonatal abdominal wall is very thin, the liver tissue texture is soft, when the force is palpated, the fingertip position is too deep, reaching the lower edge of the liver, so when breathing The tip of the liver cannot be felt by the tip. The upper edge of the liver is usually determined by percussion. If the upper edge of the liver is in the fifth intercostal space of the midline of the right clavicle, the lower edge of the liver is more than 2.0 cm below the rib arch, indicating that the liver does increase; The upper edge is lower than the fifth intercostal space. The liver may be caused by chest disease due to chest disease. If the upper edge of the liver cannot be clearly determined from the percussion, a scratching method can be used, that is, the stethoscope is placed in the central part of the liver. Gently grasp the skin of the chest with your fingers and gradually move from the outside of the liver to the liver. When the sound is heard from a distant, low blunt to a clear scratch, the edge of the liver can be determined, and the change in sound is Because the liver is a substantial organ, the transmission of sound is better than the surrounding aerated tissue.
(2) The degree of liver enlargement: The length of the liver is the height of the liver on the midline of the right clavicle. Each baby with enlarged liver must be measured. The length of the normal liver of the newborn is individual, up to 8.0 cm.
The degree of liver enlargement can be divided into light, medium and heavy three degrees.
1 Mild: refers to the liver not more than 3cm under the rib of the right clavicle; the finger can be touched under the rib or the lower edge of the liver is above the midpoint of the midline of the midline of the clavicle and the umbilical line.
2 Moderate: refers to the liver more than 3cm under the right costal margin, but does not exceed the umbilical level; the lower edge of the liver is below the midpoint of the line to the umbilical level.
3 Severity: refers to the liver below the umbilical level below the right costal margin.
(3) Texture of the liver: In addition to determining the size and position of the liver, the hardness of the liver should be checked, whether the surface is smooth or nodules, and whether the liver edge is sharp, such as the liver texture is hard and nodules, suggesting liver cancer (newborn Rare); cystic sensation is seen in hepatic cysts; fatty liver is characterized by soft texture, smooth surface and blunt edge; hepatosplenomegaly caused by neonatal hepatitis syndrome, neonatal hemolysis, metabolic disease, etc., smooth surface; Fibrotic liver is hard, with nodules on the surface, and the edges are clear and sharp; the liver of glycogen storage disease is hard like dry soil; when the liver has hemangioma, vascular sound can be heard in the liver area.
(4) Spleen: About one-fourth of normal newborns can touch the lower edge of the spleen. It is characterized by soft texture, shallow position, not covered by the colon, and the upper part of the spleen is behind the rib arch and cannot be touched.
1 splenomegaly is divided into 3 degrees:
Mild: The spleen is no more than 3 cm below the midline of the left clavicle.
Moderate: The spleen enlarges more than 3cm below the left costal margin, but does not exceed the umbilical level.
Severe: refers to swelling of the spleen below the umbilical level.
2 The texture of the spleen: There is also a change in texture when the spleen is enlarged, and the hardness at the time of palpation is clinically divided into 3 degrees:
Once (I°): The texture is soft, such as pressing the lip, this is normal hardness.
Second degree (II°): The texture is slightly hard, such as pressing the tip of the nose.
Third degree (III°): The hardness is obviously increased, such as pressing between the eyebrows.
Examine
Examination of neonatal hepatosplenomegaly
Laboratory tests are extremely important for determining the cause of hepatosplenomegaly and determining liver function. Sometimes the clinical symptoms are not obvious, but the laboratory tests have abnormal liver function. Laboratory tests are also essential for assessing the degree of liver damage and its prognosis.
Blood test
(1) Blood picture: White blood cell count and cell morphology observation have diagnostic value for infectious diseases and leukemia, hemoglobin, red blood cell reduction, reticulocyte increase, suggesting hemolytic anemia.
(2) Quantification of blood bilirubin, qualitative examination: an indispensable examination item for the diagnosis of jaundice with hepatosplenomegaly. Determination of serum bilirubin concentration is the most common test for neonatal liver disease, neonatal blood disease It is one of the most common causes of neonatal jaundice. Many liver diseases associated with jaundice need to be differentiated, especially in the first week after birth, if serum bilirubin continues to increase to more than 2 weeks after birth, and direct bilirubin If the increase in prime is the main factor, it should be considered as a liver disease.
(3) Liver function test: liver function, hepatitis B surface antigen (HBsAg), hepatitis B core antigen and E antigen examination, is an important basis for the diagnosis of neonatal hepatitis syndrome caused by hepatitis B virus. The cephalin flocculation test in the liver function test, zinc turbidity test, etc., often does not show a positive reaction in the neonatal period, and the content of alanine aminotransferase and aspartate aminotransferase in the heart and muscle tissues is also high. Enzymes can be released into the bloodstream in large quantities. Lactate dehydrogenase increases in hepatitis and does not increase in obstructive jaundice. The enzymes suggesting cholestasis are alkaline phosphatase, leucine aminotranspeptidase and -glutamyl transpeptidase. Enzymes, etc., serum 5'-nucleotidase was also significantly increased in biliary atresia.
(4) Pathogen examination: blood bacterial culture, virus isolation and detection of specific antibodies can help determine the type of bacteria and viruses that cause infection.
(5) Other tests: If abnormal glucose metabolism is suspected, blood glucose and glucose tolerance test should be performed. For the diagnosis of blood type incompatibility, direct anti-human globulin test, free antibody assay and antibody release test, serum protein electrophoresis, type A Fetal proteins, immunoglobulins, etc. can be selected as needed.
2. Bone marrow examination should consider bone marrow puncture when there is blood disease or malignant cell proliferation. It is very valuable for the diagnosis of leukemia, thrombocytopenic purpura, malaria and so on.
3. Liver biopsy may be considered for the diagnosis of hepatosplenomegaly or suspected tumor. Live tissue examination after liver and spleen puncture may be helpful to determine the nature of neonatal hepatomegaly, such as diagnosis of primary hepatic tumor. Or secondary tumors, distinguish between neonatal hepatitis syndrome and intrahepatic bile duct atresia.
1. B-mode ultrasound examination can help determine the size of the liver and spleen, especially in children with severe abdominal distension and make the liver and spleen unclear. It is necessary to use ultrasound scanning to observe the liver position, shape, size, check the transverse movement, display The relationship between the liver and adjacent organs, ultrasound can also provide etiological data, such as neonatal hepatitis, the basic wave pattern is dense microwave and dense microwave; neonatal liver cancer is cluster wave, slow wave and wave attenuation; liver abscess Visible liquid level, etc., B-mode ultrasound is very useful for the identification of hepatic cysts, liver abscesses and liver tumors, liver cirrhosis, fatty liver and congestion liver can also be distinguished under ultrasound images, gallbladder ultrasound can detect bile The presence of a general cyst.
Ultrasound examination can observe the location, shape and size of the spleen, the degree of neonatal cooperation, abdominal muscle tension and ascites and other factors have little effect on it. Ultrasound examination can be used to judge the splenomegaly more sensitive and correct than palpation, and can display the internal structure. It can distinguish between congestive splenomegaly, lymphogranuloma, primary tumor of spleen and subserosal hematoma.
2. Radionuclide examination Radionuclide examination can also be used for the diagnosis of hepatosplenomegaly. Colloid 99mTc is used to understand the location, shape, size and detection of liver lesions in the liver. The spleen can be simultaneously developed with the liver, spleen When the function is normal, the spleen shadow is lighter than the right lobe of the liver. When the spleen function is hyperthyroidism, the spleen shadow can be thicker than the liver shadow. It is also useful for the diagnosis of lesions and infiltrative lesions in the spleen.
Diagnosis
Diagnosis and differential diagnosis of neonatal hepatosplenomegaly
1. Neonatal hepatitis syndrome This syndrome is the most common cause of hepatosplenomegaly in neonatal period. Most of them begin to develop from 1 to 2 weeks after birth. Except for jaundice, the urine color is dark brown and the stool gradually becomes Grayish white, hepatosplenomegaly mild to moderate, tough texture, smooth surface, serum bilirubin is significantly increased, a type of fetal protein can be strongly positive, should be distinguished from biliary atresia, if necessary, liver biopsy and 131I - Rose red excretion test.
2. TORCH infection This disease refers to fetal infection caused by several infectious sources and causes neonatal developmental abnormalities or congenital malformations, often hepatosplenomegaly, T refers to Toxoplasma, R refers to rubella (Rubella), C refers to Cytomegalovirus, H refers to Herpesviru, O is interpreted as Other, such as syphilis, the above infections are mainly caused by fetal infection caused by maternal infection during pregnancy.
Poisonous protozoal infection can cause microcephaly, hydrocephalus, cerebral calcification, chorioretinitis, encephalitis, myocarditis, hepatosplenomegaly, diarrhea, jaundice and convulsions, cytomegalovirus infection, neonatal liver spleen Swollen, jaundice, cyanosis, anemia, fever, lethargy, convulsions, but also microcephaly, hydrocephalus, retinitis, etc., when the rubella virus infection, neonates can show hepatosplenomegaly, cataract, retinopathy, platelets Reduced symptoms, glaucoma and heart defects.
Diagnostic points:
(1) History of infection during pregnancy.
(2) The above symptoms and signs.
(3) A four-fold increase in the serum antibody titer can help diagnose, because the neonatal serum test is the best way to diagnose or exclude congenital infections, but after the neonatal period, the serum test has been congenital infection. No diagnostic value, herpes virus, cytomegalovirus, rubella virus infection In addition to serum tests, virus isolation can also help diagnosis, cytomegalovirus infection is also very diagnostic from the discovery of giant cell inclusions in fresh urine sediment.
In addition, when there is an increase in serum immunoglobulin M, fetal infection should be considered because immunoglobulin M cannot pass through the placenta. It is worth noting that about 3% of normal neonatal cord blood immunoglobulin M titers are positive. And the test proved that only 20% of the patients with congenital taco infection increased the titer, therefore, not all congenital infections have increased immunoglobulin M.
3. Malaria in the neonatal period of malaria can be divided into two types: congenital and acquired. The congenital malaria parasite is transmitted from the mother to the child through the placenta. It can be ill after birth or delayed to 2 months after birth. Congenital Diagnostic points for malaria:
(1) The infection of the mother and newborn is caused by the same Plasmodium.
(2) There are anti-mosquito devices after birth, except for acquired infections.
(3) The placenta infected by Plasmodium has edema, congestion, and obvious pigmentation; Plasmodium at various stages of development can be seen.
(4) clinical manifestations of anemia, jaundice, fever and atypical heat, hepatosplenomegaly, mainly splenomegaly.
Acquired neonatal malaria refers to natural infection after birth or infection through blood transfusion. The main features are atypical heat type, cold limbs, pale complexion, cyanosis, sweating, vomiting, convulsions, etc. If a Plasmodium is found in a blood or bone marrow smear, it can be diagnosed.
4. Liver abscess neonatal liver abscess is caused by umbilical infection. Abscess is often multiple, showing fever, abdominal distension, liver enlargement, severely crying when touching liver area, blood cell examination is obviously elevated, liver ultrasound examination The liquid level section can be seen.
5. Liver cirrhosis in the neonatal period is not uncommon, and can be caused by many diseases such as biliary atresia, neonatal hepatitis syndrome, neonatal hemolysis, galactosemia, etc. Therefore, the etiology of neonatal cirrhosis should be made. diagnosis.
The main clinical manifestations of neonatal cirrhosis are: vomiting, diarrhea, weight loss, jaundice, stool color or grayish white, a small number of children may have convulsions, edema, abdominal distension or ascites, hepatosplenomegaly and hard texture, also There may be bleeding tendency, laboratory tests may have direct bilirubin elevation, low albumin, albumin to globulin ratio (A / G) inverted, transaminase slightly elevated, liver biopsy visible extensive liver fibrosis Hepatocytes have vacuoles, central vein dilatation and bile duct hyperplasia.
6. Common bile duct cyst This disease is mostly due to weakness of the common bile duct wall, easy to swell, and the bile duct is blocked, the intraluminal pressure increases, the main manifestation is intermittent jaundice, less milk, no increase in weight, stool grayish white There is a mass in the lower edge of the liver. There is a sense of fluctuation. If the common bile duct is slightly dilated, the mass may not be detected. The urine bilirubin is positive, the serum direct bilirubin is elevated, and the suspicious cases may be ultrasonically examined or gallbladder angiography. Help with diagnosis.
7. Hepatic hemangioma with small hepatic hemangioma can be asymptomatic, hemangioma can have gastrointestinal bleeding or abdominal hemorrhage, the liver is progressive, vascular endothelium can be single or multiple, some cases There may also be hemangioma on the surface of the skin, or symptoms of heart failure due to aortic-venous fistula, some with thrombocytopenia, X-ray examination showing liver calcification, and radionuclide liver scan can help diagnose.
8. Primary liver cancer Neonatal liver cancer is rare, mainly manifested as progressive hepatic disease, hard texture, surface is not smooth like nodular, fever, less milk, weight loss, bloating, ascites, jaundice, late visible lymph nodes And lung metastases, such as supraclavicular lymphadenopathy and compression symptoms, ultrasound, liver scan and liver tissue examination can help confirm the diagnosis.
9. Liver metastasis of liver metastases is more common, can be from adrenal adenoma, nephroblastoma, malignant teratoma, rhabdomyosarcoma, etc., found that primary tumors are easy to diagnose, otherwise you need to do liver biopsy Confirmed diagnosis.
10. Liver cysts Liver cysts can only involve the liver, or multiple cysts of the kidneys and other organs. The main clinical manifestations are hepatomegaly, the surface is not smooth, and the touch is elastic. If it is a single or large cyst, For superficial subjects, the light transmission test can be positive, and ultrasound and liver scan can help diagnose.
11. Glycogen storage disease type I This disease is a congenital abnormal glucose metabolism, autosomal recessive inheritance, family history, mainly due to the lack of glucose-6-phosphatase in liver and kidney tissue, resulting in glycogenolysis Glycogen accumulates in the liver and enlarges the liver. Glycogen also accumulates in the kidneys, myocardium, etc. The clinical manifestations are that the neonatal period can occur, there is hypoglycemia and convulsions, there is obvious liver enlargement at birth, and the texture is tough. Smooth surface, without jaundice and splenomegaly, severe vomiting, no milk, dehydration, acidosis, or death, laboratory tests for ketone body positive, low fasting blood glucose, serum cholesterol, ketone body and lactic acid increase Liver biopsy shows that hepatocytes contain a large amount of glycogen (up to 5% to 15%, normal value is only 1% to 5%), and skin fibroblast culture can identify the type of enzyme deficiency.
12. Galactosemia This disease is an abnormality of autosomal recessive hereditary glucose metabolism. It can be normal when the child is born. Symptoms appear after eating. It shows vomiting, lethargy, diarrhea, hypoglycemia and convulsions, feeding difficulties, severe jaundice or physiology. The duration of jaundice is prolonged, and the liver is obvious. If the breast feeding is not stopped, the liver gradually increases, which can also cause splenomegaly and cataract.
13.1-antitrypsin deficiency 1-antitrypsin deficiency is a congenital hereditary disease, possibly autosomal recessive, 1-antitrypsin normal content 200mg/100ml, only a normal content in severe deficiency 10% to 15%, clinical manifestations of neonatal hepatitis syndrome and cholestasis, and finally developed into cirrhosis, it has been reported that in the diagnosis of neonatal hepatitis syndrome, 20% to 40% of cases are 1-anti Trypsin deficiency sign, diagnosis points:
(1) After birth, jaundice gradually worsens and there is cirrhosis.
(2) Serum is directly positive for whitening test, and 1-globulin is absent in serum protein electrophoresis. This disease should be distinguished from neonatal hepatitis syndrome and biliary obstruction.
14. Portal hypertension caused by portal vein stenosis is caused by cirrhosis, but congenital portal vein stenosis, portal vein thrombosis, superior mesenteric vein or splenic vein embolization can cause portal hypertension and splenomegaly. The main features are esophagus. Varicose veins, hematemesis, anemia, hepatosplenomegaly, leukopenia and thrombocytopenia.
15. Spleen cysts Spleen cysts rarely exist alone, easily associated with liver and kidney cysts, physical examination showed cystic mass in the spleen area, mostly located in the spleen or spleen subcapsular spleen scan or selective splenic angiography can be clearly diagnosed.
