A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype

作者：Shao, Leping^*; Xu, Yan; Dong, Qian; Lang, Yanhua; Yue, Shaoheng; Miao, Zhimin

来源：Endocrine, 2010, 37(3): 473-478.

DOI：10.1007/s12020-010-9340-6

• Renal tubular acidosis
• Inherited
• AE1
• Hypokalemia
• Nephrocalcinosis

Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger AE1, cause distal renal tubular acidosis (dRTA), a disease of defective urinary acidification by the distal nephron. We searched for SLC4A1 gene mutations in six patients from a Chinese family with a severe phenotype of dRTA (growth impairment, severe metabolic acidosis, with/or without gross nephrocalcinosis and renal impairment). All coding regions of kidney isoform of AE1, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. A novel 1-bp duplication at nucleotide 2713 (c.2713dupG, band 3 Qingdao) in exon 20 of SLC4A1 in this family was identified by direct sequencing analysis. This duplication alters the encoded protein through codon 905, and results in a reading frame for 15 extra condons (instead of 8) before the new stop condon at position 919 (p.Asp905Glyfs15). We suggest that RTA should be considered as a diagnostic possibility in adult subjects with nephrocalcinosis and chronic renal insufficiency, and family survey should be carefully performed.

• 出版日期2010-6
• 单位青岛大学