Rothenbuhler Anya, Esterle Laure, Gueorguieva Iva, Salles Jean-Pierre, Mignot Brigitte, Colle Michel, Linglart Agnes
Department of Pediatric Endocrinology and Diabetes, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phophore, Pole I3E, Bicetre Hospital, Paris Sud University, APHP, 94275 Le Kremlin Bicetre, France.
Department of Pediatric Endocrinology and Diabetes, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phophore, Pole I3E, Bicetre Hospital, Paris Sud University, APHP, 94275 Le Kremlin Bicetre, France.
Growth Horm IGF Res. 2017 Oct;36:11-15. doi: 10.1016/j.ghir.2017.08.001. Epub 2017 Aug 15.
Twenty-five to 40% of patients with well-controlled X-linked hypophosphatemic rickets (XLHR) have a final height under -2 SDS. Previous studies have shown that recombinant human growth hormone (rhGH) treatment improves linear growth in short children with XLHR.
We studied the effectiveness of rhGH treatment in children with XLHR in a larger cohort.
Monocentric, prospective, non-randomized trial.
University hospital in France.
19 patients with XLHR and a mutation in the PHEX gene. Six male and 6 female Tanner stage 1 patients (age 6.1±2.4years) and 4 male and 3 female Tanner stage 2 patients (age 13.1±1years). At inclusion, height SDS was -2.35±0.8 SDS and growth velocity was -1.12±1.2 SDS.
2years of treatment with 67mcg/kg/day of rhGH at initiation. Every three months rhGH dosage was adjusted using an IGF-1 dosing protocol.
Comparison in change from baseline to year 2 in height and growth velocity.
Height SDS improved from -2.35±0.8 SDS at baseline, to -1.62±0.8 SDS (p=0.01) after one and to -1.2±1 SDS (p=0.04) after two years of rhGH treatment. There was a strong correlation (r=0.6104, p<0.0001) between the age of onset of rhGH treatment and the number of cm gained over the study period. Pre-pubertal patients height SDS improved compared to baseline height SDS after one (-1.5±0.7, p<0.03) and two (-0.96±1, p<0.03) years of rhGH treatment. In pubertal patients there was no significant improvement in height SDS after one year (-1.75±1) and after two years (-1.7±0.8) of rhGH treatment.
Two-year rhGH treatment is effective to treat short stature in XLHR children. Pre-pubertal children responded better to rhGH.
NCT02720770.
在X连锁低磷血症佝偻病（XLHR）病情得到良好控制的患者中，25%至40%的患者最终身高低于-2 SDS。既往研究表明，重组人生长激素（rhGH）治疗可改善XLHR矮小儿童的线性生长。
我们在一个更大的队列中研究了rhGH治疗XLHR患儿的有效性。
单中心、前瞻性、非随机试验。
法国的大学医院。
19例患有XLHR且PHEX基因发生突变的患者。6例男性和6例女性坦纳1期患者（年龄6.1±2.4岁）以及4例男性和3例女性坦纳2期患者（年龄13.1±1岁）。纳入时，身高SDS为-2.35±0.8 SDS，生长速度为-1.12±1.2 SDS。
起始时采用67 mcg/kg/天的rhGH进行2年治疗。每三个月根据IGF-1给药方案调整rhGH剂量。
比较从基线到第2年身高和生长速度的变化。
rhGH治疗1年后，身高SDS从基线时的-2.35±0.8 SDS改善至-1.62±0.8 SDS（p = 0.01），治疗2年后改善至-1.2±1 SDS（p = 0.04）。rhGH治疗开始的年龄与研究期间身高增加的厘米数之间存在强相关性（r = 0.6104，p < 0.0001）。rhGH治疗1年（-1.5±0.7，p < 0.03）和2年（-0.96±1，p < 0.03）后，青春期前患者的身高SDS与基线身高SDS相比有所改善。青春期患者在rhGH治疗1年（-1.75±1）和2年（-1.7±0.8）后，身高SDS无显著改善。
两年的rhGH治疗对治疗XLHR患儿的身材矮小有效。青春期前儿童对rhGH反应更好。
NCT02720770。
