Case report of acromesomelic dysplasia Maroteaux type caused by the NPR2 gene mutation
10.3760/cma.j.cn101070-20210225-00228
- VernacularTitle:NPR2基因突变致Maroteaux型肢端肢中发育不全1例
- Author:
Jie SUN
1
;
Lihong JIANG
;
Pengli BAO
;
Lele NIU
;
Jiaqi ZHENG
;
Geli LIU
;
Rongxiu ZHENG
Author Information
1. 天津医科大学总医院儿科，天津 300052
- Keywords:
Short stature;
Acromesomelic dysplasia Maroteaux type;
NPR2 gene;
Recombinant human growth hormone
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(12):944-946
- CountryChina
- Language:Chinese
-
Abstract:
Clinical data of a child with acromesomelic dysplasia Maroteaux type (AMDM) treated in the Department of Pediatrics, Tianjin Medical University General Hospital at November 2018 was retrospectively analyzed.The female child aged 3 years and 3 months old with 83 cm height (-3.84 SD) had clinical manifestations of disproportionate short stature, disproportionate shortening of forearms and forelegs, and stubby fingers and toes.Gene sequencing identified compound heterozygous mutations, c.1640T>A(p.Val547Asp)/c.682G>A(p.Gly228Ser), in the NPR2 gene, which have not been reported in the Human Gene Mutation Database.Their protein function was predicted harmful.The child was diagnosed as AMDM.During the follow-up until 4 years and 8 months old, the child was 90 cm tall (-4.35 SD), with a growth velocity of 4.9 cm/year.She was treated with recombinant human growth hormone (rhGH) treatment for 9 months and regularly followed up.The child was now 98.2 cm height (-3.07 SD) and she had a growth velocity of 10.9 cm/year.This case report enriched the gene mutation spectrum of AMDM.Treatment with rhGH can effectively improve the height of the child, but the long-term effect needs further follow-up and observation.
