概述
什么是生长障碍？
Growth disorders impact normal tissue growth, and can arise from many causes including malnutrition or poor nutrient absorption, hormone disorders, bone and collagen disorders, or genetic and metabolic diseases. Short stature associated with growth disorders is typically defined as someone who less than the third percentile of average height compared to others of the same age and birth sex. This means they are currently shorter than or projected to be shorter than 97% of their peers. Short stature can also be defined as relative to parental height, or someone who is much shorter than their expected height given their genetic growth potential. Severe short stature, or a projected adult height less than 4’10” tall, can significantly impact activities of daily living, and may require adaptations to perform tasks: such as workplace duties, driving, and household tasks.
Growth disorders with specialty medication treatments include:
- Growth hormone (GH) deficiency and growth-hormone responsive conditions
- Insulin-like growth factor-1 (IGF-1) deficiency
- Achondroplasia
More about Growth Hormone and IGF-1 related conditions:
生长激素 (GH) 由位于大脑底部的垂体前叶分泌。In response to growth hormone, the body releases Insulin-like Growth Factor-1 (IGF-1) to signal tissues to grow.1
Growth hormone-treated disorders could be a result of growth hormone deficiency or could be due to a genetic condition responsive to growth hormone treatment. Growth hormone deficiency could occur in isolation or can also be acquired at any time of life as the result of pituitary damage from brain injury, radiation treatments, brain infection, or tumors. 有时，生长激素缺乏症 (GHD) 或对生长激素治疗有反应的身材矮小可能没有已知的原因，并在儿童期后得到改善。Some children may continue to be growth hormone deficient as adults, especially if they have other pituitary hormone disorders.
无论是否缺乏生长激素，身材矮小都可能会发生。Examples short stature diagnoses where growth hormone is used include idiopathic short stature and babies born small for gestational age, who do not catch up to average height by age 2. Some congenital causes of short stature that may improve with growth hormone treatment include Turner Syndrome, Russel-Silver Syndrome, Prader-Willi Syndrome, Noonan Syndrome, and SHOX deficiency.
Growth hormone replacement injections may be given until childhood growth stops. In patients with continued growth hormone deficiency, treatment continues into adulthood.
生长激素不敏感可能是 IGF-1 缺乏所致。This rare diagnosis can cause severe short stature, disproportionate body features, and developmental abnormalities. It can be treated with mecasermin, which is a twice daily injection.2
Due to the potential for abuse and misuse, federal law prohibits dispensing growth hormone for unapproved uses, such as anti-aging or cosmetic treatment, performance enhancement or sports recovery, weight loss, or to boost height in average-height children. Growth hormone does not have a proven benefit for these uses. 在一些州省，生长激素被列为受控物质，以防止可能的滥用。
More about Achondroplasia:
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage to bone. It occurs as the result of a genetic defect in the fibroblast growth factor receptor type 3 (FGFR3) gene. Most cases occur at random; however those with achondroplasia have a 50% chance of having a child with achondroplasia. Achondroplasia causes severe short stature, disproportionate body features, and complications such as spinal compression, scoliosis, sleep apnea, hearing problems and ear infections.
生长障碍有多常见？
大约 2.5% 的儿童会出现身材矮小。被诊断为生长激素缺乏症的儿童比例约为 1:4,000 至 1:10,000。Adult GH deficiency affects approximately 1:100,000 people per year, with approximately 6,000 new adult cases being diagnosed each year in the United States.3
Achondroplasia occurs in 1:20,000 to 1:30,000 live births. It is the most common skeletal disorder leading to severe short stature.4
Questions about your growth disorders therapy?
You can reach the Accredo growth disorders care team, anytime, day or night, seven days a week.
24 小时客户服务中心
- 1Cook, David, et al. “美国内分泌医师协会关于在生长激素缺乏的成人和过渡期患者中使用生长激素的临床实践的医学指南（2009 年更新）”。内分泌实践 (2010)。
- 2Human Growth Foundation. Epidemiology of Growth Hormone Deficiency. 网址为：人类成长基金会
- 3Bamba, Vaneeta. Pediatric Growth Hormone Deficiency Medscape. Last Updated: Dec 09, 2022.
- 4Pauli, R.M. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 14, 1 (2019).
症状
What are the symptoms of growth disorders?
Childhood-onset Growth Hormone Deficiency:1 2
- 面部特征不成熟
- 小阴茎畸形
- 牙萌出缓慢
- 长骨延长延迟
- 细发
- 指甲生长不良
- 躯干性肥胖
- 声音尖锐
- 低血糖发作
- 低生长速度
- 青春期延迟
- 低出生体重
Adult-onset Growth Hormone Deficiency:3 4
- 脂肪量的相对增加（特别是腹部和内脏）
- 肌肉量减少
- 能量水平降低
- 焦虑和/或抑郁
- 低密度脂蛋白胆固醇和甘油三酯水平升高
Achondroplasia:
- Disproportionate short stature, seen at birth
- Shorter limb to trunk ratio
- Decreased muscle tone
- Shortened fingers
- Shortened fingers
- Abnormal flexibility
- Bowed legs with growth
- Abnormal curvature of the spine
- Hearing loss (middle-ear defects)
- Frequent ear infections
- Sleep apnea
如何诊断？
Medical history including gestational events, family history, and growth charts (in children) are important parts of a growth disorder work up.
Growth hormone deficiency work up also includes x-rays for bone age (in children), lab tests and may include imaging to rule out certain diagnoses. Children with GHD have delayed bone age compared to same-age peers. Laboratory tests may include IGF-1 level, IGFBP-3 level (insulin growth factor binding protein-3), thyroid hormone level, pituitary hormone levels, and tests that stimulate growth hormone release. Growth hormone stimulation tests may take several hours of monitoring and blood draws to assess the body’s ability to release GH.2
- 1Bamba, Vaneeta. Pediatric Growth Hormone Deficiency Medscape. Last Updated: Dec 09, 2022.
- 2Rieser, Patricia A. Pediatric Growth Hormone Deficiency Human Growth Foundation. 访问日期：2018 年 2 月 19 日
- 3Cook, David, et al. “美国内分泌医师协会关于在生长激素缺乏的成人和过渡期患者中使用生长激素的临床实践的医学指南（2009 年更新）”。内分泌实践 (2010)。
- 4Human Growth Foundation. (last updated 2015) Epidemiology of Growth Hormone Deficiency. 网址为：Adult Growth Hormone Deficiency Accessed December 3, 2016.
药品
生长激素
The following specialty medications are available at Accredo, a specialty pharmacy for Growth Hormone.
Growth Hormone used for growth disorders:
节约护理费用
您还可获得经济援助，以承担您的部分药品费用，包括生产商和社区计划。Accredo 专家可以帮助您找到适合您的计划。
- Genotropin® 储蓄计划 | 800-645-1280
- Humatrope® 共付计划 | 866-923-1953
- Increlex® IPSEN CARES® | 866-435-5677
- Norditropin® NordiSure™ | 888-668-6444
- Nutropin 共付卡计划 | 866-688-7674
- Omnitrope® 共付支持 | 877-456-6794
- Serostim® 共付援助计划| 877-714-2947
- Voxzogo® Assistance at BioMarin Rare Connections™ | 866-906-6100
- Skytrofa ASAP Program | 844-442-7236
- Zomacton ZoGo Support Program 844-944-ZOGO (9646)
财政指导
急救性质的特殊药品很昂贵。通过此视频，了解 Accredo 团队如何帮助个人找到可以负担他们救命药品费用的方式。
查找支持
Growth Disorders Organizations
There are many organizations that support research and advocacy for Growth Disorders. 下面是其中部分组织。
支持组织
政府组织
团队介绍
Accredo’s Growth disorders team is dedicated to serving you and we understand the complexity of your condition. 我们的特殊培训临床医师每周 7 天、每天 24 小时为您提供服务，以回答您的任何问题。
我们为什么要这样做
Accredo 为慢性和复杂病症患者提供支持，并帮助他们过上最好的生活。请观看我们的视频，了解我们为什么为患者尽心尽力。