Choo Keng E, Nicoli Taija K, Bruce Lesley J, Tanner Michael J A, Ruiz-Linares Andres, Wrong Oliver M
Department of Paediatrics and Child Health, Universiti Malaysia Sarawak, Kuching, Sarawak, Malaysia.
Pediatr Nephrol. 2006 Feb;21(2):212-7. doi: 10.1007/s00467-005-2061-z. Epub 2005 Oct 27.
Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations. Both had Southeast Asian ovalocytosis (SAO), a morphological abnormality of red cells caused by a deletion of band 3 residues 400-408. In addition, one boy had a DNA sequence abnormality of band 3 residue (G701D), which has been reported from elsewhere in Southeast Asia. The other boy had the novel sequence abnormality of band 3 (Q759H) and profound hemolytic anemia.
编码带3（肾脏和红细胞阴离子交换蛋白）的AE1（SLC4A1，阴离子交换蛋白1）基因突变是许多家族性远端肾小管酸中毒（dRTA）病例的病因。在东南亚，这种疾病通常是隐性的，由单个AE1突变的纯合性或两个不同AE1突变的复合杂合性引起。我们描述了砂拉越的两名不相关男孩，他们患有与AE1突变复合杂合性相关的dRTA。两人都患有东南亚椭圆形红细胞增多症（SAO），这是一种由带3残基400 - 408缺失引起的红细胞形态异常。此外，一名男孩存在带3残基的DNA序列异常（G701D），这在东南亚其他地区已有报道。另一名男孩存在带3的新序列异常（Q759H）以及严重的溶血性贫血。
