Publication:

Refractory rickets in distal renal tubular acidosis: a case report of severe skeletal deformity and short stature with genetic implications

The inability of the distal renal tubule to expel hydrogen ions is linked to type I (distal) renal tubular acidosis (RTA). Hyperchloremic metabolic acidosis, an unusual rise in urine pH, decreased excretion of ammonium and bicarbonate ions in the urine, and a slight decline in renal function are its hallmarks. Hypercalciuria is common in distal RTA because of bone resorption, which increases as a buffer against metabolic acidosis. This can result in intractable rickets. All the known genetic causes of distal RTA accounts to disfunction of intercalated cells in collecting tubules. We describe a case of refractory rickets with severe skeletal deformity and short stature secondary to distal renal tubular acidosis with probable genetic cause, who with simple intervention of alkali therapy, on follow up showed with biochemical and clinical improvement.