Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D

作者：Shmukler Boris E; Kedar Prabhakar S; Warang Prashant; Desai Mukesh; Madkaikar Manisha; Ghosh Kanjaksha; Colah Roshan B; Alper Seth L^*

来源：American Journal of Hematology, 2010, 85(10): 824-828.

DOI：10.1002/ajh.21836

Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl /HCO(3)(-) exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philipines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.

• 出版日期2010-10