Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations
Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE...
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| Main Authors: | , , , , , |
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| Format: | E-Article |
| Language: | English |
| Published: |
Springer
2006
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| Subjects: | |
| Online Access: | http://ir.unimas.my/id/eprint/15746/1/Recessive%20distal%20renal%20tubular%20acidosis%20in%20Sarawak%20caused%20by%20AE1%20mutations%20%28abstract%29.pdf http://ir.unimas.my/id/eprint/15746/ https://www.springermedizin.de/recessive-distal-renal-tubular-acidosis-in-sarawak-caused-by-ae1/8548886 |
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| Summary: | Mutations of the AE1 (SLC4A1, Anion-Exchanger
1) gene that codes for band 3, the renal and red
cell anion exchanger, are responsible for many cases of
familial distal renal tubular acidosis (dRTA). In Southeast
Asia this disease is usually recessive, caused either by
homozygosity of a single AE1 mutation or by compound
heterozygosity of two different AE1 mutations. We describe
two unrelated boys in Sarawak with dRTA associated
with compound heterozygosity of AE1 mutations.
Both had Southeast Asian ovalocytosis (SAO), a morphological
abnormality of red cells caused by a deletion
of band 3 residues 400–408. In addition, one boy had a
DNA sequence abnormality of band 3 residue (G701D),
which has been reported from elsewhere in Southeast
Asia. The other boy had the novel sequence abnormality
of band 3 (Q759H) and profound hemolytic anemia. |
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