Refractory rickets caused by mild distal renal tubular acidosis

Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and mi...

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Bibliographic Details
Published in:Annals of pediatric endocrinology & metabolism 2013, 18(3), , pp.152-155
Main Authors: Lee, Ji-Ho, Park, Joo Hyun, Ha, Tae-Sun, Han, Heon-Seok
Format: Article
Language:English
Subjects:
Case Report
Distal renal tubular acidosis
Nephrocalcinosis
Rickets
소아과학
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Summary:Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and mild deterioration in renal function. Hypercalciuria is common in distal RTA because of bone resorption, which increases as a buffer against metabolic acidosis. This can result in intractable rickets. We describe a case of distal RTA with nephrocalcinosis during follow-up of rickets in a patient who presented with clinical manifestations of short stature, failure to thrive, recurrent vomiting, dehydration, and irritability.
ISSN:2287-1012
2287-1292
DOI:10.6065/apem.2013.18.3.152