1. A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis.
- Author
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Martin, Jacqueline L., Davis‐Cochrane, Alexander G. J., Temelcos, Catherine, Unwin, Robert J., Walsh, Stephen B., Tam, Constantine, and Goodman, David
- Subjects
KIDNEY stone prevention ,INBORN errors of metabolism diagnosis ,URINARY tract infection diagnosis ,ACIDOSIS ,COMPUTED tomography ,FEVER ,HOSPITAL emergency services ,KIDNEY calcification ,INBORN errors of metabolism ,GENETIC mutation ,PAIN ,RENAL tubular transport disorders ,SEPSIS ,SODIUM bicarbonate ,SURGICAL stents ,URETERIC obstruction ,GENETIC testing ,MACROCYTIC anemia ,CONGENITAL hemolytic anemia - Abstract
The article describes the case of a 23-year-old Malaysian woman with fever and left loin pain on a background of established distal renal tubular acidosis (dRTA) of unknown aetiology. Highlights include bilateral nephrocalcinosis and left-sided dilated renal calyces according to computed tomography imaging, erythrocytes with transverse bands of pallor known as stomatocytes according to blood film, and management of dRTA on maintaining urine calcium and serum bicarbonate in normal range.
- Published
- 2020
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