Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene

Hereditary distal renal tubular acidosis (dRTA) is a rare disease of H + excretion defect of α-intercalated cells in renal collecting duct, caused by decreased V-ATPase function due to mutations in the ATP6V1B1 or ATP6V0A4 genes. In the present study, a genetic family with 5 members of the complete dRTA phenotype were found with distal tubule H + secretion disorder, hypokalemia, osteoporosis, and kidney stones. A variant NM_020632.2:c.1631C >...