myelo-pancreatic syndrome
Introduction
Introduction to bone marrow-pancreatic syndrome Bone marrow-pancreatic syndrome, also known as Pearson syndrome, is a mitochondrial disease that causes congenital progressive multi-system damage due to a significant loss (or rearrangement) of mitochondrial DNA. basic knowledge The proportion of illness: 0.0005% Susceptible people: no specific population Mode of infection: non-infectious Complications: renal failure
Cause
Bone marrow-pancreatic syndrome
Autosomal dominant inheritance, erythrocyte enzyme deficiency, is due to a significant lack or rearrangement of mitochondrial DNA.
Prevention
Bone marrow-pancreatic syndrome prevention
Pay attention to rest, work and rest, life in an orderly manner, and maintaining an optimistic, positive and upward attitude towards life can be of great help in preventing diseases.
Complication
Bone marrow-pancreatic syndrome complications Complications, renal failure
Liver and kidney failure are common comorbidities.
Symptom
Bone marrow-pancreatic syndrome symptoms Common symptoms Liver failure Lactic acid accumulation Excessive pancreatic enzyme secretion or excretion reduces pancreatic exocrine dysfunction
Clinical features except anemia found shortly after birth, as well as pancreatic exocrine insufficiency, increased lactate levels, occasional lactic acidosis, and finally liver and kidney failure.
Examine
Bone marrow-pancreatic syndrome examination
1. Peripheral blood: Hemoglobin is reduced, and the characteristics of hypopigmentation anemia are obvious. The morphology of red blood cells in blood smears is often two-way, and the two types of cells with normal and abnormal morphology can be seen. The red blood cells are obviously uneven in size; shaped, target shape, ellipse The shape and color of red blood cells increased, the reticulocytes decreased, the number of white blood cells and platelets decreased, and the osmotic fragility of red blood cells showed obvious inconsistency, which may be increased or decreased.
2. Bone marrow image: Excessive proliferation of erythroid cells in the bone marrow, iron staining showed a significant increase in hemosiderin, iron granulocytes increased to 80% to 90%, and about 10% to 40% of ring-shaped iron granule cells were observed. Most of the latter are middle and late erythrocytes. Iron granules can also be found in blood smears. Occasionally, giant erythrocytes are present, which may be accompanied by folic acid deficiency.
3. Most of the serum iron increased: Iron saturation is often significantly increased, iron dynamics studies usually show that plasma iron clearance rate is accelerated, 1/4 to 1/2 of normal; iron utilization is reduced, about 1/5 of normal 1/3.
4. Decreased FEP in erythrocytes or in normal lower line: FEC is mostly normal in erythrocytes, FEC can be high in cases with ineffective pyridoxine treatment, and FEP is significantly reduced. The survival time of red blood cells measured by 51Cr is normal or slightly shortened, red blood cells The average life expectancy is 40 to 100 days.
5. Some patients have increased excretion of urinary yellow uric acid (4,8-dihydroxyquinolinic acid) and/or canine quinolinic acid when the tryptophan load is aggravated, indicating abnormal metabolism of tryptophan.
6. Liver biopsy: shows iron deposits, the liver of non-transfusion patients can also have the same changes, often with asymptomatic small nodular cirrhosis, similar to liver lesions of hereditary hemochromatosis.
7. According to the condition, clinical manifestations, symptoms, signs, choose ECG, B-ultrasound, X-ray and other tests.
Diagnosis
Diagnosis and differentiation of bone marrow-pancreatic syndrome
diagnosis
According to the characteristics of this disease, it is generally not difficult to make the diagnosis of iron granulocyte anemia, but it needs to be differentiated from idiopathic and secondary iron granule anemia. Therefore, it must be considered based on detailed medical history and physical examination. And conduct a family survey.
Differential diagnosis
The disease needs to be differentiated from thalassemia, and thalassemia patients can be accompanied by anemia of iron granule cells. Because globin synthesis is significantly reduced, excess heme can feedback inhibition of ALA synthase, leading to anemia of iron granule cells.
