成骨不全症中 COL1A1/COL1A2 致病性变异导致的青春期生长。

Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2.

机构信息

Shriners Hospital for Children - Canada, McGill University, Montreal, QC, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

Shriners Hospital for Children - Canada, McGill University, Montreal, QC, Canada.

出版信息

Genet Med. 2022 Sep;24(9):1920-1926. doi: 10.1016/j.gim.2022.05.008. Epub 2022 Jun 3.

DOI:10.1016/j.gim.2022.05.008

PMID:35657380

Abstract

PURPOSE

Short stature is common in osteogenesis imperfecta (OI) and is usually severe in OI types III and IV. The characteristics of pubertal growth in OI have not been studied in detail.

METHODS

We assessed 82 individuals with OI caused by pathogenic variants in COL1A1 or COL1A2 who had annual height data between 6 and 16 years of age at a minimum. Height velocity curves were fitted to each individual's height data to describe the pubertal growth spurt.

RESULTS

Curve fitting was successful in 30 of the 33 individuals with OI type I (91%), in 23 of the 32 individuals with OI type IV (72%), and in 4 of the 17 participants with OI type III (24%). Pubertal growth spurt could be identified in most individuals with OI types I and IV, but rarely in OI type III. The timing of the pubertal growth spurt was similar between OI types I and IV in both sexes. However, height velocity was consistently higher in OI type I, leading to a widening height gap between OI types I and IV.

CONCLUSION

A pubertal growth spurt was present in most individuals with OI types I and IV, but rarely in OI type III.

摘要

目的

身材矮小在成骨不全症（OI）中很常见，并且在 OI 类型 III 和 IV 中通常较为严重。OI 青春期生长的特征尚未得到详细研究。

方法

我们评估了 82 名 COL1A1 或 COL1A2 致病性变异引起的 OI 患者，这些患者在 6 至 16 岁之间至少有每年的身高数据。使用每个个体的身高数据拟合身高速度曲线，以描述青春期生长突增。

结果

33 名 OI 类型 I 患者中的 30 名（91%）、32 名 OI 类型 IV 患者中的 23 名（72%）和 17 名 OI 类型 III 患者中的 4 名（24%）成功拟合了曲线。OI 类型 I 和 IV 的大多数个体都可以识别出青春期生长突增，但在 OI 类型 III 中很少见。青春期生长突增在男性和女性的 OI 类型 I 和 IV 中发生的时间相似。然而，OI 类型 I 的身高速度始终较高，导致 OI 类型 I 和 IV 之间的身高差距扩大。