Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis
| Autor: | Lesley J. Bruce, Ashley M. Toye, O Wrong, Michael J. A. Tanner, Robert J. Unwin |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
AE1
Hereditary elliptocytosis Molecular Sequence Data 030232 urology & nephrology spherocytosis distal renal tubular acidosis Gene mutation Compound heterozygosity medicine.disease_cause anion exchanger 03 medical and health sciences 0302 clinical medicine Distal renal tubular acidosis stomatognathic system Anion Exchange Protein 1 Erythrocyte parasitic diseases medicine Humans Amino Acid Sequence gene mutation Kidney Tubules Collecting Band 3 Asia Southeastern 030304 developmental biology Genetics 0303 health sciences Mutation biology Elliptocytosis Hereditary Acidosis Renal Tubular ovalocytosis medicine.disease Southeast Asian ovalocytosis 3. Good health stomatognathic diseases Ovalocytosis Nephrology biology.protein |
| Zdroj: | Kidney International. 62(1):10-19 |
| ISSN: | 0085-2538 |
| DOI: | 10.1046/j.1523-1755.2002.00417.x |
| Popis: | Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Familial distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO) may coexist in the same patient. Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell. Dominant dRTA is usually due to a mutation of the AE1 gene, which does not alter red cell morphology. SAO is caused by an AE1 mutation that leads to a nine amino acid deletion of red cell band 3, but by itself does not cause dRTA. Recent gene studies have shown that AE1 mutations are responsible for autosomal recessive dRTA in several countries in Southeast Asia; these patients may be homozygous for the mutation or be compound heterozygotes of two different AE1 mutations, one of which is usually the SAO mutation. |
| Databáze: | OpenAIRE |
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