阿根廷丙酮酸激酶缺乏症的多中心研究

C. Pepe, S. Eberle, H. Donato, N. Basack, M. T. Baña, M. Cedola, E. García, M. Rapetti, E. Rubulotta, B. Milanesio, A. Bisio, M.A. Cichierichetti, A. Lazarowski, V. A. Gómez
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摘要

红细胞丙酮酸激酶缺乏症(PKD)是最常见的隐性先天性糖酵解酶缺陷,与非球型溶血性贫血相关。这是一种罕见的遗传性疾病,由plklr基因的bb300变体引起。这是一项回顾性研究,来自阿根廷不同中心的19例确诊分子诊断为PKD的患者。大多数病例从出生开始进行临床随访。来自“吉普赛”社区的5例近亲患者“pk -吉普赛缺失”(PK-Gd)为纯合子。在新生儿期,他们出现了黄疸性贫血。60%需要换血,80%需要光疗,80%需要输血。在随访中,100%的患者发现铁超载,40%的患者需要胆囊切除术,60%的患者需要脾切除术。13例有2种错义变异(MS),其中地中海变异(p.a g486trp)检出频率较高(26%)。仅有1例患者存在错义剪接突变组合。在新生儿期,86%有贫血和黄疸。78%的患者需要光疗,21%的患者需要输血,64%的患者需要输血。在随访中,57%的患者发现铁超载,43%的患者需要脾切除术。与点突变患者相比,PK-Gd患者更需要输血(脾切除术前和脾切除术后)(分别为100%/60%和71%/29%)。我们的数据表明PKD患者具有高度的临床-治疗-分子异质性,其中PK-Gd组呈现最严重的病例。
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Multicenter Study of Pyruvate Kinase Deficiency in Argentina
The red blood cell (RBC) pyruvate kinase deficiency (PKD) is the most common recessive congenital defect of glycolytic enzymes associated with non-spherocytic hemolytic anemia. It is a rare hereditary disorder caused by >300 variants in the PKLR gene. This is a retrospective study of 19 patients from different centers from Argentina with confirmed molecular diagnosis of PKD. Clinical follow-up was carried out from birth in most cases. Five consanguineous patients from “gypsy” community, were homozygous for the “PK-Gypsy deletion” (PK-Gd). During the neonatal period they developed anemia with icterus. Transfusion exchange was required in 60%, light therapy in 80%, and RBC transfusion in 80%. During the follow-up iron overload was detected in the 100%, cholecystectomy was indicated in 40%, and splenectomy in 60%. Thirteen cases had 2 missense variants (MS), being the Mediterranean variant (p.Arg486Trp) the more frequent detected (26%).Only 1 patient had a missense-splicing mutation combination. During the neonatal period, 86% had anemia and icterus. Light therapy was required in 78%, transfusion exchange in 21% and RBC transfusion in 64%. During the follow-up iron overload was detected in 57% and splenectomy was indicated in 43%. Transfusions (pre-splenectomy and post-splenectomy) were more required in PK-Gd cases as compared with patients with point mutations (100%/60% vs 71%/29% respectively). Our data indicates a high clinical-therapeutic-molecular heterogeneity in PKD patients with the PK-Gd group presenting the most severe cases.
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