Case report
Open access
Oct 2026
Early-onset autosomal dominant distal renal tubular acidosis caused by a de novo SLC4A1 R589C variant with growth failure and rickets
The case of a Japanese boy with a de novo SLC4A1 variant who presented with marked growth failure from 6 months of age and was diagnosed with AD-dRTA at 27 months illustrates that AD-dRTA may present during infancy and that assessment of acid–base status may facilitate timely diagnosis in children with otherwise unexpl...
H. Ito, M. Nagata, Koji Sakuraya et al.
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