2例PAPP-A2缺乏症患者的成人身高和长期预后

IF 1.6 4区 医学 Q4 CELL BIOLOGY Growth Hormone & Igf Research Pub Date : 2021-10-01 DOI:10.1016/j.ghir.2021.101419
Álvaro Martín-Rivada , Vicente Barrios , Guillermo Martínez Díaz-Guerra , Jesús Pozo , Gabriel Ángel Martos-Moreno , Jesús Argente
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引用次数: 2

摘要

PAPP-A2缺乏症是一种新型综合征,其特征是由于IGF生物活性低、骨骼异常和骨密度降低而导致身材矮小。用重组人IGF-1 (rhIGF-1)治疗1年证明可以增加生长速度和骨密度,没有报道的不良反应,但关于rhIGF-1在该实体中的长期疗效和安全性的数据尚未报道。由于PAPP-A2基因纯合子功能缺失突变(p.D643fs25*)导致身材矮小的两个西班牙兄弟姐妹接受了rhIGF-1治疗,每天两次,持续六年。生长速度持续加快,两例患者均达到了目标身高。服用rhIGF-1后,游离IGF-1浓度显著升高,血清IGFBP-3、IGFBP-5和ALS水平也在治疗期间升高。在治疗期间,骨密度逐渐正常化,瘦体重也有所增加。没有记录低血糖发作或任何其他不良反应。其中一名患者的肾脏和脾脏的生长都有所增加。
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Adult height and long-term outcomes after rhIGF-1 therapy in two patients with PAPP-A2 deficiency

PAPP-A2 deficiency is a novel syndrome characterized by short stature due to low IGF bioactivity, skeletal abnormalities and decreased bone mineral density (BMD). Treatment with recombinant human IGF-1 (rhIGF-1) for 1 year demonstrated to increase growth velocity and BMD, without reported adverse effects, but data regarding the long-term efficacy and safety of rhIGF-1 administration in this entity has not yet been reported.

Two Spanish siblings with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25*) were treated with rhIGF-1 twice daily for six years. Growth velocity continued to increase and both patients achieved their target height. Free IGF-1 concentrations increased notably after rhIGF-1 administration, with serum IGFBP-3, IGFBP-5 and ALS levels also being higher during treatment. BMD was progressively normalized and an increase in lean mass was also noted during treatment. No episodes of hypoglycemia or any other adverse effects were documented. An increase in the growth of kidney and spleen length was observed in one of the patients.

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来源期刊
Growth Hormone & Igf Research
Growth Hormone & Igf Research 医学-内分泌学与代谢
CiteScore
3.30
自引率
0.00%
发文量
38
审稿时长
57 days
期刊介绍: Growth Hormone & IGF Research is a forum for research on the regulation of growth and metabolism in humans, animals, tissues and cells. It publishes articles on all aspects of growth-promoting and growth-inhibiting hormones and factors, with particular emphasis on insulin-like growth factors (IGFs) and growth hormone. This reflects the increasing importance of growth hormone and IGFs in clinical medicine and in the treatment of diseases.
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