A case of rickets with dual defect

ABSTRACT A 15-year-old boy presented with poor height gain and progressive knee deformities over 5 years, leading to difficulty in walking. Examination revealed widened wrist, genu valgum, and rachitic rosary. Laboratory investigations indicated hypokalemia, non-anion gap metabolic acidosis, elevated alkaline phosphatase, and severe vitamin D deficiency. Radiographs showed features suggestive of rickets, and ultrasound revealed medullary nephrocalcinosis, confirming distal renal tubular acidosis (dRTA). Secondary causes of dRTA were excluded through comprehensive testing. The patient was treated with sodium bicarbonate to correct acidosis and high-dose vitamin D supplementation. This dual approach addressed the metabolic abnormalities and promoted bone healing, highlighting the importance of a thorough evaluation and targeted treatment in complex cases of rickets.