Growth hormone treatment in a child with X-linked hypophosphataemic rickets

Abstract

N: 2.9-5.4) and elevated alkaline phosphatase (1,065 U/L; N: 200-495) levels. Renal function tests were normal (serum urea: 18 mg/dL, creatinine: 0.6 mg/dL and eGFR ≥ 75 mL/minute/ 1.73 m²) and there was no features of metabolic/renal acidosis (arterial blood gas pH: 7.4, bicarbonate: 24 mmol/L). Phosphate wasting was confirmed by reduced renal reabsorption of phosphate (TRP: 50%), and based on hypophosphatemia, increased serum alkaline phosphatase, radiological sign of rickets and a family history compatible with X-linked dominant inheritance, a diagnosis of XLH rickets was made.The child was started on oral phosphate (20 mg/Kg/day of neutral-phos powder) supplementation and calcitriol [1,25(OH) 2 D3] (0.5 μg/day). Growth hormone (rhGH) treatment was commenced after one month, with 0.03 mg/Kg/day and administered as daily subcutaneous injections. During the 12-month rhGH treatment, the patient was assessed at trimonthly intervals (at 3, 6, 9 and 12 months). Deformities were assessed clinically and by obtaining standard clinical photographs at 0 and 12 months. At rhGH onset, the height Z-score was −4.8

Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment

“…Because short stature is the leading symptom of hypophosphatemic rickets, it is growth hormone that has most commonly been used up until now from among the new, alternative treatment options. [36][37][38] However, there is no unequivocal proof that a more optimal body height is achieved in adulthood after implementation of this therapy during the growth period, and in studies evaluating a 3-…”

“…Because short stature is the leading symptom of hypophosphatemic rickets, it is growth hormone that has most commonly been used up until now from among the new, alternative treatment options . However, there is no unequivocal proof that a more optimal body height is achieved in adulthood after implementation of this therapy during the growth period, and in studies evaluating a 3‐year period of drug administration, it was noted that it may enhance the disproportion between the upper and lower body parts, which significantly diminished the enthusiasm for this drug …”