Ann Pediatr Endocrinol Metab.  2013 Sep;18(3):152-155. 10.6065/apem.2013.18.3.152.

Refractory rickets caused by mild distal renal tubular acidosis

Affiliations
  • 1Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea. hshan@chungbuk.ac.kr

Abstract

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.

Keyword

Distal renal tubular acidosis; Rickets; Nephrocalcinosis

MeSH Terms

Acidosis
Acidosis, Renal Tubular*
Bicarbonates
Bone Resorption
Dehydration
Failure to Thrive
Follow-Up Studies
Humans
Hydrogen-Ion Concentration
Hypercalciuria
Kidney Tubules, Distal
Nephrocalcinosis
Protons
Quaternary Ammonium Compounds
Rickets*
Vomiting
Bicarbonates
Protons
Quaternary Ammonium Compounds

Figure

  • Fig. 1 Skeletal X-ray at two different time points. (A) At the age of 6 years, showing diffuse osteopenia, fraying in the both distal radius and ulna, with fracture of the left tibia and both fibula. (B) At the age of 11 years, showing diffuse osteopenia, fraying of the distal radius and ulna, with fracture of the left tibia and fibula.

  • Fig. 2 Ultrasonography showing increased echogenecity and nephrocalcinosis in the renal parenchyma of both kidneys.

  • Fig. 3 Abdomen and pelvis CT showing multiple calcified lesions in both kidneys. (A) A precontrast axial image showing multiple calcified lesions in both renal parenchyma. (B) A postcontrast coronal image showing multiple calcified lesions in both renal parenchyma and simple cysts in left kidney.


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