Congenital pure red cell aplasia (congenital pure red blood cell anemia), also known as Diamond-Blackfan syndrome, is referred to as congenital pure red cell aplasia. The pathogenesis remains unclear. Some cases have a family history, suggesting a possible genetic link. Recent studies using in vitro bone marrow cell culture have found that autologous lymphocytes inhibit the formation of normal erythroid progenitor colonies, leading to the hypothesis that this disease may be an immune-mediated disorder.

bubble_chart Clinical Manifestations

1. Age of onset: 90% of cases develop symptoms before 1.5 years of age, with 25% showing symptoms at birth. Most cases exhibit anemia symptoms 3-4 weeks after birth.
2. Anemia manifestations: The onset is gradual and progressively worsens, presenting with pale complexion, lethargy, weakness, and absence of hepatosplenomegaly or lymphadenopathy. Severe cases may develop cardiomegaly or even heart failure. There is no bleeding tendency, but advanced stages are prone to infections.
3. Associated malformations: Approximately 1/4 of cases are accompanied by congenital anomalies, such as distinctive facial features (thick upper lip, wide-set eyes), renal malformations, skeletal abnormalities, congenital heart disease, exophthalmos, strabismus, cleft lip/palate, neck webbing, digit deformities, and abnormal skin pigmentation.

bubble_chart Auxiliary Examination

1. Blood picture: Hemoglobin is often below 40g/L, presenting as normocytic normochromic anemia. White blood cells and platelets are normal, while reticulocytes are significantly reduced or absent.
2. Bone marrow findings: Mostly shows normal proliferation. Erythroblasts are extremely scarce or absent (generally accounting for less than 5% has diagnostic significance). The granulocytic series and megakaryocytic series are normal.

bubble_chart Treatment Measures

1. Adrenocortical Hormone Therapy: Effective in 75% of children, particularly when treatment is initiated early, it can elevate hemoglobin levels to normal. The initial dosage is prednisone 2-4 mg/(kg·d), administered orally in 3-4 divided doses. If effective, an increase in bone marrow erythroblasts and reticulocytes can be observed within 1-3 weeks, and hemoglobin levels may normalize within 4-6 weeks. The dosage is then gradually reduced, transitioning to alternate-day or thrice-weekly administration, until the minimum effective dose (which can be as low as 2.5 mg/d) is identified for continued use. A trial discontinuation period may also be attempted to assess hormone dependency. If no improvement is observed after 4-6 weeks of continuous full-dose therapy (accounting for approximately 10-15% of cases), indicating hormone ineffectiveness, the dosage should be gradually tapered and discontinued, and alternative methods should be considered. However, the use of cobalt chloride and androgens has been proven ineffective.
2. Use of Immunosuppressants: For cases unresponsive to hormones, cyclophosphamide or azathioprine at 2 mg/(kg·d) may be trialed.
3. Blood Transfusion: For patients unresponsive to the aforementioned medications, intermittent blood transfusions (packed red blood cells) are necessary, ideally maintaining hemoglobin levels above 75 g/L. However, repeated transfusions should be monitored for hemosiderosis, and deferoxamine should be administered if needed.
4. Others: For drug-resistant cases, splenectomy may be attempted to reduce transfusion frequency. The role of bone marrow transplantation in treating this condition remains inconclusive.