ArticleJournal of Korean medical science2018
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.
Article in Journal of Korean medical science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Transient Primary Renal Tubular Acidosis During Pregnancy: A Case Report.Kidney medicine · 2026Article
- Renal calcification in children with renal tubular acidosis: What a paediatrician should know.World journal of clinical pediatrics · 2023Review
- Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis.Kidney diseases (Basel, Switzerland) · 2023Review
- Mutations and clinical characteristics of dRTA caused byFrontiers in pediatrics · 2023Review
- Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary SpherocytosisIranian biomedical journal · 2021Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
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Abstract
Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and clinical features in different parts of the world. While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably recessive, and often accompanies red cell morphological abnormalities or hemolytic anemia in the tropics, especially in Southeast Asia. Here, we report three patients with autosomal recessive (AR) dRTA, presenting with typical findings of failure to thrive and rickets, from two unrelated Lao families. The mutational analyses revealed that all three patients harbored the same homozygous SLC4A1 mutation, p.Gly701Asp. Adequate supplementation of alkali and potassium resulted in remarkable improvement of growth retardation and skeletal deformities of the patients. This is the first case report of Lao patients with AR dRTA caused by SLC4A1 mutations.
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