Diagnostic Dilemma

Short stature with rickets


Author:
Question
An 11-year-old boy presented with progressive knock knees and short stature since 5 years of age. He was treated with multiple courses of calcium and vitamin D but had no response. On examination, he had florid rickets, genu valgum with a height of 104 cm. He had pallor. Other systemic examination findings were normal. Investigations showed:
• Hemoglobin = 6.7 gm/dl
• WBC count = 8,600/cumm
• Platelet count = 2,17,000/cumm
• Serum calcium = 6.4 mg%, phosphorus = 7.5 mg% and
alkaline phosphatase = 1231 IU/L.

What is the diagnosis?
Expert Opinion :
This child has presented with rickets, short stature, and anemia. The causes of rickets that one must consider are vitamin D-resistant rickets, chronic kidney disease (CKD), and renal tubular acidosis (RTA). Pallor is significantly seen in CKD and not seen in resistant rickets or RTA. Moreover, this child has high phosphorus which suggests secondary hypoparathyroidism and that is leading to hypocalcemia too. This hypoparathyroidism is seen in patients with CKD and can lead to renal osteodystrophy. Resistant rickets would lead to hyperparathyroidism and normal or low phosphorus whereas, in RTA, serum calcium, phosphorus, and alkaline phosphatase would be normal. Short stature may be the only presentation of CKD or RTA. Thus in this child, one should consider a diagnosis of CKD. The child’s creatinine was 8.4 mg% and BUN was 120 mg%. He had small kidneys on the ultrasound abdomen.
Answer Discussion :
A
Ajitha Menon
bubble
Chronic kidney disease
1 month ago
S
Shanthi Ananthakrishnan
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probably CKD
1 month ago

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