Early-onset autosomal dominant distal renal tubular acidosis caused by a de novo SLC4A1 R589C variant with growth failure and rickets.

Hajime Ito, Masumi Nagata, Koji Sakuraya, Reina Mayumi, Akina Matsuda, Keita Sakaguchi, Hiromichi Shoji

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Article in CEN case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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7 authors.

Hajime ItoDepartment of Pediatrics, Tokyo Metropolitan Tobu Chiiki Hospital, Tokyo, Japan.

Masumi NagataDepartment of Pediatrics, Faculty of Medicine, Juntendo University, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan. ma-nagata@juntendo.ac.jp.ORCID http://orcid.org/0000-0002-6561-2855

Koji SakurayaDepartment of Pediatrics, Faculty of Medicine, Juntendo University, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan.

Reina MayumiDepartment of Pediatrics, Faculty of Medicine, Juntendo University, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan.

Akina MatsudaDepartment of Pediatrics, Tokyo Metropolitan Tobu Chiiki Hospital, Tokyo, Japan.

Keita SakaguchiDepartment of Pediatrics, Tokyo Metropolitan Tobu Chiiki Hospital, Tokyo, Japan.

Hiromichi ShojiDepartment of Pediatrics, Faculty of Medicine, Juntendo University, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal dominant (AD) distal renal tubular acidosis (dRTA) generally has a later onset and milder clinical course than autosomal recessive forms. However, delayed diagnosis may result in prolonged metabolic acidosis and severe growth impairment. Here we report the case of a Japanese boy with a de novo SLC4A1 (NM_000342.4):c.1765C > T (p.Arg589Cys) variant who presented with marked growth failure from 6 months of age and was diagnosed with AD-dRTA at 27 months. Because severe short stature was the predominant clinical feature, venous blood gas analysis was performed and revealed metabolic acidosis (pH 7.197, HCO

Indexed as

Acidosis, Renal TubularAnion Exchange Protein 1, ErythrocyteGrowth DisordersRicketsAcidosisChild, PreschoolHumansInfantMaleNephrocalcinosisAnion Exchange Protein 1, ErythrocyteSLC4A1 protein, humanDistal renal tubular acidosisGrowth failureNephrocalcinosisR589CSLC4A1

Identifiers

PMID42862495

DOI10.1007/s13730-026-01192-5

PMCPMC13658732

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