Shaikh Wasiyeeullah, Suratkal Lohitaksha, Bhave Abhay
Department of Nephrology, Lilavati Hospital and Research Center, Mumbai, Maharashtra, India.
Department of Hematology, Lilavati Hospital and Research Center, Mumbai, Maharashtra, India.
Indian J Nephrol. 2023 May-Jun;33(3):209-212. doi: 10.4103/ijn.ijn_210_21. Epub 2023 Feb 21.
In this case study, we report an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homozygous for c.2573C>A (p.Ala858Asp). Distal renal tubular acidosis (dRTA) can be caused by mutations in , which encodes the Cl/HCO exchanger of the renal type A intercalated cell, kidney AE1. variants have been reported in dRTA patients from North America, Europe, and Southeast Asia. In some rare instances, dRTA can present with hemolytic anemia resulting in marked anemia that is not responsive to standard interventions. This report identifies an autosomal recessive inheritance pattern for variants in a patient presenting with dRTA and hemolytic anemia.
在本病例研究中，我们报告了一名成年患者，其表现为全身无力、明显贫血、球形红细胞增多症，且无地中海贫血特征。该患者因疑似自身免疫性溶血性贫血接受治疗，但治疗效果不佳。基因分析显示该患者c.2573C>A（p.Ala858Asp）纯合。远端肾小管酸中毒（dRTA）可由编码肾A型闰细胞的Cl/HCO交换体（肾AE1）的基因突变引起。在来自北美、欧洲和东南亚的dRTA患者中已报告有该变体。在一些罕见情况下，dRTA可伴有溶血性贫血，导致明显贫血，且对标准干预措施无反应。本报告确定了一名患有dRTA和溶血性贫血患者中该变体的常染色体隐性遗传模式。
