在一个罕见的案例中探索多种内分泌学问题和dysautonomia:MIRAGE综合征中的甲状腺功能低下症
Sirmen Kızılcan Çetin1, Elif Özsu1, Zeynep Şıklar1
1Department of Pediatric Endocrinology, School of Medicine, Ankara University, Ankara, Turkey.
Journal of clinical research in pediatric endocrinology
|March 26, 2024
概括
奇迹综合征是一种罕见的遗传疾病,表现出各种症状,包括生长问题和上腺问题. 这一案例突出显示了一名患有SAMD9基因变异的年轻女孩出现了独特的表现,其中包括dysautonomia和脏并发症.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 奇迹综合征是一种罕见的多系统性疾病,具有多种不同的临床表现.
- 失自性是MIRAGE综合征的一个罕见的特征.
研究的目的:
- 为了在一个6.5岁的女孩身上呈现一个奇迹综合征的病例,具有独特而广泛的症状.
- 要突出诊断挑战和MIRAGE综合征的多样化表型谱.
主要方法:
- 一个儿科患者的临床病例介绍.
- 整体外基因组测序以识别遗传变异.
- 综合性内分泌和多系统性研究.
主要成果:
- 患者的身材矮小,过渡性甲状腺功能低下症,甲状腺功能低下症,缺血症,复发性 moniliasis,低 IgM 和过渡性单体体 7.
- 整体外基因组测序发现了一种异合体致病性SAMD9变体 (c.2159del; p.Asn720ThrfsTer35).
- 额外的并发症包括骨,电解质失衡,功能障碍和需要胰岛素治疗的高血糖症.
结论:
- 这一案例强调了MIRAGE综合征的广泛和复杂的表型变异性.
- 早期遗传鉴定和全面监测对于管理MIRAGE综合征患者至关重要.
- 缺血和严重的脏干扰扩大了这种罕见疾病的已知的临床谱.
关键词:
这种自主性很差.奇迹综合征 (MIRAGE综合征) 是一种症状.在SAMD9中,SAMD9是什么?甲状腺过敏症 (hypoparathyroidism) 是一种严重的疾病.单体性 7 7 单体性更多相关视频
07:13Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
Published on: March 14, 2017
14.6K
10:52Preparation of Mouse Pituitary Immunogen for the Induction of Experimental Autoimmune Hypophysitis
Published on: December 17, 2010
14.6K
相关概念视频
The Parathyroid Glands
2.1K
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
2.1K
Disorders of the Autonomic Nervous System
633
The autonomic nervous system (ANS) is an intricate network of nerves that controls functions such as the regulation of heart rate, digestion, and blood pressure regulation. When this system malfunctions, it can lead to various disorders that affect multiple bodily functions. One common feature of many autonomic disorders is the involvement of smooth blood vessels, which play a crucial role in regulating blood flow throughout the body.
Raynaud's disease, also known as Raynaud's...
Raynaud's disease, also known as Raynaud's...
633
Adrenal Gland Disorders
1.5K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.5K
Major Hormones and Their Functions
387
Hormones, the biochemical messengers produced by endocrine glands, are pivotal in regulating bodily functions and maintaining homeostasis. Each hormone's balance is crucial; imbalances can lead to significant physiological disruptions. Major hormones include oxytocin, cortisol, epinephrine, estrogen, testosterone, thyroxine, growth hormone, insulin, and glucagon.
Oxytocin, produced in the hypothalamus and released by the pituitary gland, plays a role in social bonding, childbirth, and...
Oxytocin, produced in the hypothalamus and released by the pituitary gland, plays a role in social bonding, childbirth, and...
387
Hypoglycemia and Glucagon
257
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
257
Myasthenia Gravis: Overview and Treatment
1.4K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
1.4K
