麦库恩-阿尔布赖特综合征:一个病例系列
Vishal Agarwal1, Sambit Das1, Amogh S Chappalagavi1
1Endocrinology, Diabetes and Metabolism, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.
Cureus
|February 11, 2026
概括
麦库恩-阿尔布赖特综合征 (MAS) 是一种罕见的遗传疾病,由GNAS突变引起. 这个案例系列突出了各种MAS演示,强调了早期诊断和量身定制的管理策略的需要.
科学领域:
- 遗传学和分子生物学
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 麦考恩-阿尔布赖特综合征 (MAS) 是一种罕见的遗传疾病,由GNAS基因的后异位体突变引起.
- 这种突变导致Gs-合受体中的Gsα蛋白和配体独立信号的构成性激活.
- 关键的临床特征包括多位性纤维发育不良症,咖啡牛奶斑块和内分泌功能过高,如 gonadotropin-independent早期青春期 (GIPP).
研究的目的:
- 介绍一系列案例,说明麦考恩-阿尔布赖特综合征的各种临床表现.
- 强调识别各种表现的重要性,以便及时诊断和干预.
- 强调对MAS患者个性化管理方法的必要性.
主要方法:
- 对三名被诊断患有麦库恩-阿尔布赖特综合征的患者进行了回顾性病例系列分析.
- 对临床表现的审查,包括骨异常,皮肤发现和内分泌功能障碍.
- 疾病进展和管理策略的记录.
主要成果:
- 案例1:一个9岁的男孩出现了复发性骨折和面纤维发育不良.
- 案例2:一个8岁的女孩表现出早期初潮和GIPP.
- 案例3:一个7岁的女孩表现出单边的早期乳腺发育,从GIPP进展到依赖性腺激素的早期青春期 (GDPP).
结论:
- 麦考恩-阿尔布赖特综合征呈现异质,需要个性化诊断和治疗计划.
- 早期识别MAS的临床特征对于迅速干预和缓解疾病进展至关重要.
- 马斯的马赛克主义有助于广泛的临床表型,需要仔细的临床观察.
相关概念视频
Resistors In Series
6.7K
A resistor is an ohmic device that limits the flow of charge in a circuit. Most circuits have more than one resistor. If several resistors are connected together and connected to a battery, the current supplied by the battery depends on the equivalent resistance of the circuit. The equivalent resistance of a combination of resistors depends on both their individual values and how they are connected. The simplest combination of resistors is the series combination.
In a series circuit, the...
In a series circuit, the...
6.7K
Series Resonance
877
The RLC circuit impedance is defined as the ratio of the supply voltage to the circuit current. Resonance in such a circuit occurs when the imaginary part of this impedance equals zero. This specific condition means that the inductive reactance is exactly equal to the capacitive reactance. The frequency at which this happens is known as the resonant frequency. Mathematically, the resonant frequency is inversely proportional to the square root of the product of the inductance (L) and capacitance...
877
Series and Parallel Capacitors
9.7K
Capacitors, fundamental components in electronic circuits, can be connected in series and/or parallel configurations. Each configuration has different impacts on the overall behavior of the circuit.
First, consider capacitors connected in series to a battery. In this configuration, the plate connected to the battery's positive terminal develops a positive charge, while the plate attached to the negative terminal becomes negatively charged. An equal magnitude of charge is induced on the...
First, consider capacitors connected in series to a battery. In this configuration, the plate connected to the battery's positive terminal develops a positive charge, while the plate attached to the negative terminal becomes negatively charged. An equal magnitude of charge is induced on the...
9.7K
Trigonometric Fourier series
825
Fourier series is a foundational mathematical technique that decomposes periodic functions into an infinite series of sinusoidal harmonics. This method enables the representation of complex periodic signals as sums of simple sine and cosine functions, facilitating their analysis and interpretation in various fields, including signal processing, acoustics, and electrical engineering.
The trigonometric Fourier series specifically expresses a periodic function with a defined period T using sine...
The trigonometric Fourier series specifically expresses a periodic function with a defined period T using sine...
825
Convergence of Fourier Series
437
The Fourier series is a powerful mathematical tool for representing periodic signals as an infinite sum of complex exponentials. In practice, this infinite series is truncated to a finite number of terms, yielding a partial sum. This truncation makes the approximation of the signal feasible but introduces certain challenges, particularly near discontinuities, known as the Gibbs phenomenon.
The Gibbs phenomenon refers to the persistent oscillations and overshoots that occur near discontinuities...
The Gibbs phenomenon refers to the persistent oscillations and overshoots that occur near discontinuities...
437
Series R—L Circuit Transients
431
In a series resistor-inductor (R-L) circuit, closing the switch at the start of the time period simulates a three-phase short circuit, a fault condition where all three phases of an unloaded synchronous machine are short-circuited. When there is no fault impedance and no initial current, the initial voltage is determined by the phase angle of the source voltage.
Using Kirchhoff's Voltage Law (KVL) to analyze this circuit helps determine the total asymmetrical fault current, which consists...
Using Kirchhoff's Voltage Law (KVL) to analyze this circuit helps determine the total asymmetrical fault current, which consists...
431


