What is the role of genetics in the etiology of hyperchloremic acidosis?

Updated: Sep 03, 2020
  • Author: Sai-Ching Jim Yeung, MD, PhD, FACP; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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A study by Palazzo et al found that in a group of sporadic cases of primary dRTA, clinical features did not indicate which of three genes that have been implicated in the condition—SLC4A1, ATP6V0A4, or ATP6V1B1—was responsible for its existence in specific patients. [8]

However, Alonso-Varela et al reported that dRTA presented later in study patients with SLC4A1 mutations than it did in cases associated with ATP6V0A4 or ATP6V1B1 mutations. The investigators also found that serum potassium levels tended to be normal or less depressed in patients with SLC4A1 defects. In addition, most patients with ATP6V1B1 mutations had hearing loss at diagnosis, compared with 17% and 0% of the patients with ATP6V0A4 or SLC4A1 defects, respectively. [9]

Palazzo et al determined that in recessive cases of primary dRTA, mutations in ATP6V0A4 occurred as frequently as did mutations in ATP6V1B1. [8]

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