Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.

Autor:	Park E; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea., Phaymany V; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.; Department of Pediatrics, Children's Hospital, Vientiane, Lao PRD., Yi ES; Department of Pediatrics, Children's Hospital, Vientiane, Lao PRD.; Department of Pediatrics, Korea University Guro Hospital, Seoul, Korea., Phangmanixay S; Department of Pediatrics, Children's Hospital, Vientiane, Lao PRD., Cheong HI; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea. cheonghi@snu.ac.kr., Choi Y; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Jazyk:	angličtina
Zdroj:	Journal of Korean medical science [J Korean Med Sci] 2018 Mar 26; Vol. 33 (13), pp. e95. Date of Electronic Publication: 2018 Mar 26.
DOI:	10.3346/jkms.2018.33.e95
Abstrakt:	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. Competing Interests: The authors have no potential conflicts of interest to disclose. (© 2018 The Korean Academy of Medical Sciences.)
Databáze:	MEDLINE
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