低酸性狂风病:一个不明原因的早期特征的甲状腺细胞失生症
Julio Soto Barros1,2,3, Demetrios Braddock4, Thomas O Carpenter3
1Department of Pediatrics, Faculty of Medicine, University of Concepcion, Chacabuco esquina Janequeo S/N, 4070106 Concepcion, Chile.
Bone reports
|September 1, 2023
概括
头骨甲状腺细胞失质症 (CMD) 可以在婴儿中出现. 早期补充剂在患有ANKH基因突变的婴儿中纠正了生化异常和放射性征兆.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 生物化学 生物化学
背景情况:
- 甲状腺细胞失质症 (CMD) 是一种罕见的骨疾病,其特征是面骨的高静止和甲状腺细胞燃烧.
- ANKH基因的突变是CMD的常见原因.
- Rickets 是一个不常见的,但公认的CMD早期并发症.
研究的目的:
- 报告一个患有CMD的婴儿患有恶心病的病例.
- 描述诊断的生化和放射性发现.
- 为了说明和酸补充剂的治疗反应.
主要方法:
- 一个患有CMD的婴儿的临床病例呈现.
- 生物化学分析包括血清性酸酶,,FGF23和酸盐的管状再吸收.
- 病的放射性评估.
- 对ANKH基因突变的遗传分析.
主要成果:
- 婴儿在1-3个月大时呈现出生化和放射性证据的病.
- 调查显示,低酸血症,高管状酸盐再吸收,并抑制了FGF23.
- 在ANKH基因中发现了一种异构致病变体 (c.1124_1126del).
- 用和酸盐治疗导致生物化学和放射学改善.
结论:
- 婴儿CMD可以表现为恶心,模仿其他代谢性骨疾病.
- 及时的生化和遗传调查对于诊断至关重要.
- 有针对性的和酸盐治疗可以有效地管理CMD中的恶心病.
相关概念视频
Bone Disorders
3.7K
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
3.7K
Chronic Kidney Disease II: Clinical Manifestations
29
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
29
Inborn Errors of Metabolism
194
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
194
What is the Skeletal System?
52.9K
Overview
52.9K
Bone Formation by Endochondral Ossification
4.6K
Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...
4.6K
Introduction to Electrolytes
10.3K
In humans, electrolytes play a vital role in various physiological processes. Balancing electrolyte levels is essential for normal body functions; their imbalance can be life-threatening. The major electrolytes include sodium, potassium, chloride, calcium, phosphate, and bicarbonate. They are primarily involved in physiological processes, such as nerve signal transmission, membrane trafficking, muscle contraction, buffering body fluids, and balancing water levels in the body.
Role of Sodium
One...
Role of Sodium
One...
10.3K


