PDF(Pubmed)
Abstract：
BACKGROUND: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations.
METHODS: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed.
CONCLUSIONS: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.
METHODS: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed.
CONCLUSIONS: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.
摘要：
背景：患有硫胺素反应性巨幼细胞性贫血（TRMA）的个体主要表现为大细胞性贫血，感觉神经性耳聋,眼部并发症,和非自身免疫性糖尿病。大细胞性贫血和糖尿病可能对高剂量硫胺素治疗有反应，与感音神经性耳聋相反.关于硫胺素治疗对眼部表现的功效知之甚少。
方法：我们的目的是报告来自四名意大利TRMA患者的数据：在病例1、2和3中，TRMA的诊断是在9、14和27个月进行的。在4个科目中的3个中，硫胺素治疗允许高血糖的正常化，随之而来的胰岛素悬浮，和大细胞性贫血.在所有情况下,硫胺素治疗不能解决耳聋的临床表现。在病例2和3中，随访显示没有失明，与病例4不同,病例4在7岁时开始治疗巨幼细胞性贫血,但在进行TRMA基因诊断时,仅在25岁时增加至高剂量。
结论：早期大剂量补充硫胺素似乎可以预防TRMA患者视网膜变化和视神经萎缩的发展。临床表现的范围很广，描述已知病例以更好地了解这种罕见疾病是很重要的。
方法：我们的目的是报告来自四名意大利TRMA患者的数据：在病例1、2和3中，TRMA的诊断是在9、14和27个月进行的。在4个科目中的3个中，硫胺素治疗允许高血糖的正常化，随之而来的胰岛素悬浮，和大细胞性贫血.在所有情况下,硫胺素治疗不能解决耳聋的临床表现。在病例2和3中，随访显示没有失明，与病例4不同,病例4在7岁时开始治疗巨幼细胞性贫血,但在进行TRMA基因诊断时,仅在25岁时增加至高剂量。
结论：早期大剂量补充硫胺素似乎可以预防TRMA患者视网膜变化和视神经萎缩的发展。临床表现的范围很广，描述已知病例以更好地了解这种罕见疾病是很重要的。
