Paediatric Department, Azienda Ospedaliera San Gerardo - Fondazione Monza e Brianza per il Bambino e la sua Mamma, Via Pergolesi 33, 20900, Monza, MB, Italy.
TIGET Institute, IRCCS San Raffaele Hospital, Via Olgettina 60, 20132, Segrate, MI, Italy.
Ital J Pediatr. 2019 Aug 1;45(1):93. doi: 10.1186/s13052-019-0691-1.
The treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated. The short- and long-term effects of recombinant human growth hormone in this selected cohort is still debated, given the natural progression of disease-related skeletal malformations and the paucity of treated patients reported in literature. The presented case series provides detailed information about the response to recombinant growth hormone in MPS patients diagnosed with growth hormone deficiency.
The growth patterns of 4 MPS female patients (current age: 11.7-14.3 years) treated with recombinant human growth hormone due to growth hormone deficiency have been retrospectively analyzed. Two patients, diagnosed with MPS IH, had undergone haematopoietic stem cell transplantation at an early age; the remaining two patients were affected by MPS IV and VI and were treated with enzyme replacement therapy. 4/4 patients presented with a progressive growth deceleration before the diagnosis of growth hormone deficiency was confirmed. This trend was initially reverted by a remarkable increase in height velocity after the start of recombinant growth hormone. We recorded an average increase in height velocity z-score of + 4.23 ± 2.9 and + 4.55 ± 0.96 respectively after 6 and 12 months of treatment. After the first 12-24 months, growth showed a deceleration in all the patients. While in a girl with MPS IH recombinant human growth hormone was discontinued due to a lack in clinical efficacy, 3/4 patients grew at a stable pace, tracking the height centile achieved after the cited initial increase in height velocity. Furthermore, mineral bone density assessed via bone densitometry, showed a remarkable increase in the two patients who were tested before and after starting treatment.
Recombinant human growth hormone appears to have effectively reverted the growth deceleration experienced by MPS patients diagnosed with growth hormone deficiency, at least during the first 12-24 months of treatment.
在并发生长激素缺乏症的情况下，会考虑对患有黏多糖贮积症（MPS）的患者进行重组人生长激素治疗。鉴于疾病相关骨骼畸形的自然进展以及文献中报告的治疗患者数量较少，重组人生长激素在这一选定患者群体中的短期和长期效果仍存在争议。本病例系列提供了关于诊断为生长激素缺乏症的 MPS 患者对重组生长激素反应的详细信息。
回顾性分析了 4 名因生长激素缺乏症而接受重组人生长激素治疗的 MPS 女性患者（当前年龄：11.7-14.3 岁）的生长模式。2 名患有 MPS IH 的患者在早期接受了造血干细胞移植；另外 2 名患者患有 MPS IV 和 VI，接受了酶替代疗法。4/4 名患者在生长激素缺乏症确诊前表现出生长减速的趋势。这一趋势在开始使用重组生长激素后，通过显著增加身高速度得到了初步逆转。我们记录到，在治疗 6 个月和 12 个月后，平均身高速度 z 评分分别增加了+4.23±2.9 和+4.55±0.96。在最初的 12-24 个月后，所有患者的生长速度均出现减速。在一名患有 MPS IH 的女孩中，由于缺乏临床疗效而停止使用重组人生长激素，而 3/4 的患者以稳定的速度生长，跟踪达到初始身高速度增加后获得的身高百分位。此外，通过骨密度仪评估的矿物质骨密度，在开始治疗前后接受检测的 2 名患者中显示出显著增加。
重组人生长激素似乎有效地逆转了诊断为生长激素缺乏症的 MPS 患者的生长减速，至少在治疗的最初 12-24 个月内是如此。
