Shen Ren, Feng Jian-Hua, Yang Shan-Pu
Department of Pediatrics, The People's Hospital of Yuhuan, Taizhou 317600, Zhejiang Province, China.
Department of Hematology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China.
World J Clin Cases. 2023 Mar 26;11(9):2036-2042. doi: 10.12998/wjcc.v11.i9.2036.
Acromicric dysplasia (AD) is a rare skeletal dysplasia. Its incidence is < 1/1000000, and only approximately 60 cases are reported worldwide. It is a disease characterized by severe short stature, short hands and feet, facial abnormalities, normal intelligence, and bone abnormalities. Unlike other skeletal dysplasia, AD has a mild clinical phenotype, mainly characterized by short stature. Extensive endocrine examination has not revealed a potential cause. The clinical effect of growth hormone therapy is still uncertain.
We report a clinical phenotype of AD associated with mutations in the fibrillin 1 () (OMIM 102370) gene c.5183C>T (p. Ala1728Val) in three people from a Chinese family. A 4-year-old member of the family first visited the hospital because of slow growth and short stature for 2 years, but no abnormalities were found after a series of laboratory tests, echocardiography, pituitary magnetic resonance imaging, and ophthalmological examination. Recombinant human growth hormone (rhGH) was used to treat the patient for > 5 years. The efficacy of rhGH was apparent in the first year of treatment; the height increased from -3.64 standard deviation score (SDS) to -2.88 SDS, while the efficacy weakened from the second year. However, long-term follow-up is required to clarify the efficacy of rhGH.
-related AD has genetic heterogeneity and/or clinical variability, which brings challenges to the evaluation of clinical treatment. rhGH is effective for treatment of AD, but long-term follow-up is needed to clarify the effect.
肢端短小发育不良（AD）是一种罕见的骨骼发育不良疾病。其发病率小于1/1000000，全球仅报道约60例。该疾病的特征为严重身材矮小、手足短小、面部异常、智力正常以及骨骼异常。与其他骨骼发育不良不同，AD具有轻度的临床表型，主要表现为身材矮小。广泛的内分泌检查未发现潜在病因。生长激素治疗的临床效果仍不确定。
我们报告了一个中国家庭中三名成员的AD临床表型，其与原纤维蛋白1（FBN1）（OMIM 102370）基因c.5183C>T（p.Ala1728Val）突变相关。该家庭中一名4岁成员因生长缓慢和身材矮小2年首次就诊，经过一系列实验室检查、超声心动图、垂体磁共振成像和眼科检查后未发现异常。使用重组人生长激素（rhGH）对该患者进行了5年多的治疗。rhGH在治疗的第一年效果明显；身高从-3.64标准差评分（SDS）增加到-2.88 SDS，而从第二年起效果减弱。然而，需要长期随访以明确rhGH的疗效。
与FBN1相关的AD具有遗传异质性和/或临床变异性，这给临床治疗评估带来了挑战。rhGH对AD治疗有效，但需要长期随访以明确效果。
