双边上腺增生和结肠腺瘤的兄弟姐妹中的新型细菌变异

Takahisa Handa1,2, Hiraku Kameda3, Yuki Oe1,3,4

  • 1Department of Internal Medicine, Kushiro Red Cross Hospital, Kushiro 085-8512, Japan.

JCEM case reports
|September 2, 2025
PubMed
概括

两名患有初级双边上腺增生症 (PBMAH) 和轻度自主皮质醇分泌 (MACS) 的兄弟姐妹被发现具有新的ARMC5基因变异. 这种基因突变也可能将PBMAH与结直肠瘤联系起来,这表明需要进行结直肠镜检查.

相关概念视频

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

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...
1.8K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.2K
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K