Case ReportDistal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast asian ovalocytosis
Section snippets
Case report
The chief complaint in a 33-year-old woman was generalized muscle weakness for the past 4 months. Her past medical history and review of systems were unremarkable. She was an elder sister in a family with two sibs. Only she and her father had SAO.
On admission, she was afebrile, blood pressure was 110/70 mm Hg while supine, respiratory rate was 20 breaths/min, and pulse rate was 86 beats/min. Postural changes in blood pressure and pulse rate were not detected. The patient was alert and oriented.
Discussion
The findings of hyperchloremic metabolic acidosis, hypokalemia with a relatively high TTKG and potassium excretion rate, a relatively low rate of excretion of NH4+ and citrate, and high urine pH (>5.5) are all typical for a patient with a decreased rate of distal H+ secretion.20 These results describe our patient with dRTA, whose disease is associated with the mutation of AE1 gene (deletion of 27-bp in exon 11). Nevertheless, no specific renal tissue was obtained because we could not do so on
Acknowledgements
Acknowledgment: The authors thank Nunghathai Sawasdee for her laboratory assistance.
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Received January 23, 1998; accepted in revised form October 16, 1998.
Address reprint requests to Somkiat Vasuvattakul, MD, Renal Unit, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. E-mail: [email protected]