congenital atransferrinemia
Introduction
Introduction to congenital no transferrinemia This disease, also known as congenital transferrin deficiency (congenitalatransferrinemia), is an extremely rare autosomal recessive disorder. The patient lacks or lacks transferrin in plasma, leading to small cell hypochromic anemia and liver and spleen. a large amount of iron accumulates in organs such as the pancreas. basic knowledge The proportion of illness: 0.002% Susceptible people: young children Mode of infection: non-infectious Complications: congestive heart failure, nephrotic syndrome, urinary tract infection, hemochromatosis
Cause
Congenital cause of no transferrinemia
(1) Causes of the disease
Autosomal recessive inheritance.
(two) pathogenesis
In mammals, the iron content in the body is almost completely dependent on intestinal absorption. Normal human serum transferrin concentration is 200-300 mg/dl. Above 20 mg/dl, clinical symptoms and anemia are not present. Below 10 mg/dl. Severe growth retardation and anemia may occur, suggesting that the minimum transferrin needs a concentration of 10-20 mg/dl. The intestinal mucosa's absorption of iron in the patient's mucosa is normal, and the intestinal absorption is due to the lack of transferrin in the patient's plasma. The iron transports to the bone marrow, and the red blood cell hemoglobin synthesis of the bone marrow is severely impaired, and significant small cell hypochromic anemia occurs, while a large amount of iron is deposited in the liver, spleen, pancreas and other organs in the form of ferritin and hemosiderin. In severe cases, the function of the corresponding organ is abnormal.
Prevention
Congenital no-transferrinemia prevention
Do a good job in genetic counseling, detect carriers of disease-causing genes, and give medical guidance on fertility issues.
Complication
Congenital complications without transferrinemia Complications, congestive heart failure, nephrotic syndrome, urinary tract infection, hemochromatosis
1. Heart, liver, spleen, pancreas, thyroid and adrenal gland and other organs due to iron deposition combined with fibrosis, congestive heart failure, nephrotic syndrome and so on.
2. Repeated infection, fever, most common in chronic urinary tract infections.
3. Due to long-term anemia, repeated blood transfusions can be complicated by hemochromatosis.
Symptom
Congenital symptoms of no transferrinemia common symptoms liver large and hard systolic murmur complexion pale fatigue fatigue
Mainly from childhood, there are symptoms of chronic anemia, such as pale, fatigue and weakness, most cases of systolic murmur, some cases may have liver, patients with liver, spleen, pancreas, thyroid, adrenal gland, heart and other organs are obvious The iron deposits, some organs can also be accompanied by fibrosis, clinical signs of hemochromatosis can also occur, the difference is that the patient's bone marrow can be stained with iron deficiency, and some cases provide good bacteria for the reproduction of bacteria due to excessive iron in the body. The environment is repeated and the infection is repeated. The child has growth retardation. The patient's parents are heterozygous. The plasma transferrin concentration is half of normal, but there is no anemia. The patient is homozygous and his brothers and sisters can also criticize.
Examine
Congenital examination of no transferrinemia
The degree of anemia varies greatly, hemoglobin 32 ~ 91g / L; serum iron 1.8 ~ 6.8 mol / L; total iron binding capacity 4.1 ~ 14.0 mol / L, transferrin concentration by radioimmunoassay method, the normal value of 25 ~ 40mol/L (200300mg/dl), no precipitation ring or only a small diameter of the precipitation ring is a strong evidence of the insufficient amount of transferrin. The transferrin concentration of the patient is 0-5mol/L. The intestinal absorption or increase of iron is normal or increased, and the iron utilization rate is reduced to 7% to 55% (normally 70% to 100%). After inputting normal human plasma or pure transferrin, the network can be seen within 10 to 14 days. The erythrocytes rise and the hemoglobin also rises.
According to the condition, bone wear, B-ultrasound, X-ray, tissue biopsy, liver and kidney function test, biochemical examination can be selected.
Diagnosis
Diagnosis and identification of congenital non-transferrinemia
The diagnosis of this disease is based on chronic small cell hypochromic anemia, and the total iron binding capacity is extremely low, which is generally not difficult to diagnose.
It should be differentiated from other hypopigmentemias. It is not difficult to distinguish from secondary cases based on medical history, physical signs, laboratory tests and family surveys.
Transferrin deficiency can also be secondary to certain diseases, such as nephrotic syndrome, which causes a large loss of transferrin due to large amounts of proteinuria; it has been reported that hemoglobin disease is complicated by the absence of transferrinemia and the presence of permanent fetal hemoglobin. Cases, chronic urinary tract infections may also have decreased levels of transferrin, as well as reports of cases of transferrin-IgG-transferrin complexes, clinical and laboratory hemochromatosis, and bone marrow-bleachable iron deficiency.
