Hereditary Hypophosphatemic Rickets with Hypercalciuria-Importance of Further Evaluation when Clinical Suspicion is Strong.
Chathupani Anuradha Wettasinghe, Ishara Minuri Kumarasiri, Mahendralingam Vidushajini et al.
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Case in brief
The report describes two children with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). A 5.5-year-old presented with rickets, an abnormal bone profile and normal vitamin D; urinary phosphate studies supported HHRH. He responded well to phosphate supplementation and potassium citrate. A second child presented at 1.5 years with leg bowing and a family history of hypercalciuria, but initial biochemical and urinary investigations were normal. When bowing worsened at 2.5 years, repeat testing showed findings compatible with HHRH.
What made this case unusual
In the second child, investigations were initially normal despite clinical features and family history raising suspicion; repeat testing later became compatible with HHRH.
Diagnostic / clinical pearl
Normal initial biochemical and urinary studies do not exclude HHRH when clinical suspicion remains strong; repeat investigations if symptoms persist or worsen.
Why it matters
The report notes that clinical and investigation-based diagnosis may be feasible in resource-limited settings.