Abstract | BACKGROUND: STUDY DESIGN: Case series. SETTING & PARTICIPANTS: 17 patients were recruited from 6 referral hospitals in 4 regions of Thailand. PREDICTORS: OUTCOMES & MEASUREMENTS: RESULTS: LIMITATIONS: 5 patients (30%) without detectable AE1 mutation also were unknown for other genetic abnormalities. CONCLUSIONS: Most of the patients with dRTA studied carried autosomal recessive AE1 mutations. Metabolic acidosis, which could be alleviated by adequate alkaline therapy, induced variable degrees of hemolysis in patients with dRTA associated with autosomal recessive AE1 mutations, especially in the presence of thalassemia.
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Authors | Sookkasem Khositseth, Apiwan Sirikanerat, Kulruedee Wongbenjarat, Sauwalak Opastirakul, Siri Khoprasert, Ratikorn Peuksungnern, Duangrurdee Wattanasirichaigoon, Wanna Thongnoppakhun, Vip Viprakasit, Pa-Thai Yenchitsomanus |
Journal | American journal of kidney diseases : the official journal of the National Kidney Foundation
(Am J Kidney Dis)
Vol. 49
Issue 6
Pg. 841-850.e1
(Jun 2007)
ISSN: 1523-6838 [Electronic] United States |
PMID | 17533027
(Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
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Chemical References |
- Anion Exchange Protein 1, Erythrocyte
- Hemoglobins
- Organometallic Compounds
- Ferritins
- dirhodium tetraacetate
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Topics |
- Acidosis, Renal Tubular
(epidemiology, genetics)
- Anion Exchange Protein 1, Erythrocyte
(genetics)
- Child
- Child, Preschool
- Comorbidity
- Female
- Ferritins
(blood)
- Hemoglobinopathies
(epidemiology)
- Hemoglobins
(genetics)
- Humans
- Infant
- Kidney Tubules, Distal
- Male
- Mutation
- Organometallic Compounds
- Thailand
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