Refractory rickets caused by mild distal renal tubular acidosis.

Research paper by Ji-Ho JH Lee, Joo Hyun JH Park, Tae-Sun TS Ha, Heon-Seok HS Han

Indexed on: 07 Jun '14Published on: 07 Jun '14Published in: Annals of pediatric endocrinology & metabolism


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.