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Hypophosphatemic Rickets with Hypercalciuria

Source: www.indianpediatrics.net
Topic: Rickets
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Sort Desciption: A new syndrome, hereditary hypophosphatemic rickets with hypercalciuria (HRH), was recently described in closely related members of a Bedouin tribe in Israel ...

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A new syndrome, hereditary hypophosphatemic rickets with hypercalciuria (HRH), was recently described in closely related members of a Bedouin tribe in Israel(l,2). This condition is characterized by renal phosphate leak resulting in hypophosphatemia with an appropriate elevation of blood levels of 1,25 dihydroxyvitamin D, increased intestinal calcium absorption and hypercalciuria. HRH is a distinct condition and must be differentiated from the patients of classic hypophosphatemic rickets. The rarity of this condition prompts us to report the clinical and laboratory features and response to therapy in two such patients.

Case Reports

Case 1: A 6-year-old girl of unrelated healthy parents was referred for evaluation of long standing rickets. She was well till the age of one and a half years when bowing of legs and difficulty in walking were noticed. The bony deformities chiefly involved the lower limbs and progressively increased. At the age of 5 years she started complaining of bone pain, mainly at the pelvic girdle and legs, and developed a waddling gait. On examination the height was 102 cm (<5th percentile) and weight 17 kg (10th percentile). The lower extremities were disproportionately short and showed anterolateral bowing of thighs, genu varum and double malleoli. Widening of wrists and rachitic rosary were also present. The dentition was normal. X-ray examination of long bones showed features of rickets with metaphyseal cupping and fraying and generalized demineralization.

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