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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| Format: | Article |
| Language: | English |
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Springer
2006
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| Online Access: | http://ir.unimas.my/id/eprint/15746/ http://ir.unimas.my/id/eprint/15746/1/Recessive%20distal%20renal%20tubular%20acidosis%20in%20Sarawak%20caused%20by%20AE1%20mutations%20%28abstract%29.pdf |
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| author | Keng, E. Choo Taija, K. Nicoli Lesle, J. Bruce Tanner, Michael J. A. Ruiz-Linares, Andres Wrong, Oliver M. |
| author_facet | Keng, E. Choo Taija, K. Nicoli Lesle, J. Bruce Tanner, Michael J. A. Ruiz-Linares, Andres Wrong, Oliver M. |
| author_sort | Keng, E. Choo |
| building | UNIMAS Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-15T06:47:17Z |
| format | Article |
| id | unimas-15746 |
| institution | Universiti Malaysia Sarawak |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T06:47:17Z |
| publishDate | 2006 |
| publisher | Springer |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | unimas-157462017-03-30T07:51:31Z http://ir.unimas.my/id/eprint/15746/ Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations Keng, E. Choo Taija, K. Nicoli Lesle, J. Bruce Tanner, Michael J. A. Ruiz-Linares, Andres Wrong, Oliver M. RA0421 Public health. Hygiene. Preventive Medicine 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. Springer 2006 Article PeerReviewed text en http://ir.unimas.my/id/eprint/15746/1/Recessive%20distal%20renal%20tubular%20acidosis%20in%20Sarawak%20caused%20by%20AE1%20mutations%20%28abstract%29.pdf Keng, E. Choo and Taija, K. Nicoli and Lesle, J. Bruce and Tanner, Michael J. A. and Ruiz-Linares, Andres and Wrong, Oliver M. (2006) Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. Pediatric Nephrology, 21. pp. 212-217. ISSN 1432-198X https://www.springermedizin.de/recessive-distal-renal-tubular-acidosis-in-sarawak-caused-by-ae1/8548886 DOI 10.1007/s00467-005-2061-z O R IGINAL ART ICLE |
| spellingShingle | RA0421 Public health. Hygiene. Preventive Medicine Keng, E. Choo Taija, K. Nicoli Lesle, J. Bruce Tanner, Michael J. A. Ruiz-Linares, Andres Wrong, Oliver M. Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations |
| title | Recessive distal renal tubular acidosis in Sarawak caused
by AE1 mutations |
| title_full | Recessive distal renal tubular acidosis in Sarawak caused
by AE1 mutations |
| title_fullStr | Recessive distal renal tubular acidosis in Sarawak caused
by AE1 mutations |
| title_full_unstemmed | Recessive distal renal tubular acidosis in Sarawak caused
by AE1 mutations |
| title_short | Recessive distal renal tubular acidosis in Sarawak caused
by AE1 mutations |
| title_sort | recessive distal renal tubular acidosis in sarawak caused
by ae1 mutations |
| topic | RA0421 Public health. Hygiene. Preventive Medicine |
| url | http://ir.unimas.my/id/eprint/15746/ http://ir.unimas.my/id/eprint/15746/ http://ir.unimas.my/id/eprint/15746/ http://ir.unimas.my/id/eprint/15746/1/Recessive%20distal%20renal%20tubular%20acidosis%20in%20Sarawak%20caused%20by%20AE1%20mutations%20%28abstract%29.pdf |