Altay C, Cetin M, Gümrük F, Irken G, Yetgin S, Laleli Y
Department of Pediatric Hematology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Pediatr Hematol Oncol. 1995 Jan-Feb;12(1):19-28. doi: 10.3109/08880019509029524.
Thirty-six patients with Imerslund-Gräsbeck syndrome are presented. The mean ages at presentation and diagnosis were 4.7 +/- 3.7 years and 7.2 +/- 4.2 years, respectively. The mean hemoglobin level was 5.8 +/- 2.2 g/dL, the mean cell volume was 104.9 +/- 11.6 fL, the white blood cell count was 4479 +/- 2022/mm3, and the serum vitamin B12 level was 96.9 +/- 73 pg/mL. At diagnosis, 5 of the 36 patients, aged 5 to 16 years, had neurologic symptoms. All the patients had severe megaloblastic changes in bone marrow precursor cells. Proteinuria was detected in 78% of them. Patients with proteinuria had a younger age of onset (P < 0.0001) and diagnosis (P < 0.001) compared with those without proteinuria. In all patients, vitamin B12 excretion unbound to intrinsic factor after a flushing dose of vitamin B12 was lower than normal, and there was no appreciable correction in urinary vitamin B12 excretion after binding of intrinsic factor. The impairment of vitamin B12 absorption studies in Schilling tests; however, showed great variation among patients. Serum haptoglobin values were close to zero in all patients, indicating the presence of that intravascular hemolysis in Imerslund-Gräsbeck syndrome. Variations among patients in the age of presentation, degree of impairment of vitamin B12 absorption, and presence or absence of proteinuria suggest a heterogeneity in etiology of Imerslund-Gräsbeck syndrome at the molecular level.
本文报告了36例Imerslund-Gräsbeck综合征患者。出现症状时的平均年龄和确诊时的平均年龄分别为4.7±3.7岁和7.2±4.2岁。平均血红蛋白水平为5.8±2.2g/dL，平均细胞体积为104.9±11.6fL，白细胞计数为4479±2022/mm³，血清维生素B12水平为96.9±73pg/mL。确诊时，36例患者中有5例年龄在5至16岁之间，出现了神经症状。所有患者的骨髓前体细胞均有严重的巨幼细胞改变。78%的患者检测到蛋白尿。与无蛋白尿的患者相比，有蛋白尿的患者起病年龄（P<0.0001）和确诊年龄（P<0.001）更小。在所有患者中，给予冲击剂量维生素B12后，未与内因子结合的维生素B12排泄量低于正常水平，内因子结合后尿维生素B12排泄量无明显改善。在希林试验中，维生素B12吸收研究的损害；然而，患者之间存在很大差异。所有患者的血清触珠蛋白值均接近零，表明Imerslund-Gräsbeck综合征存在血管内溶血。患者在出现症状的年龄、维生素B12吸收受损程度以及是否存在蛋白尿方面的差异表明，Imerslund-Gräsbeck综合征在分子水平上病因存在异质性。
